Variant report

Variant	nsv588582
Chromosome Location	chr22:23154058-23262360
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2349)
CpG islands
(count:123)
Chromatin interactive
region (count:219)
LncRNA
region (count:22)
Mature miRNA
region (count: 3)
miRNA target
sites (count:0)

(count:2349 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
2	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
3	ARID3A	chr22:23185588-23185620	K562	blood:	n/a	n/a
4	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
5	ATF1	chr22:23234038-23234184	K562	blood:	n/a	n/a
6	ATF1	chr22:23203811-23204540	K562	blood:	n/a	n/a
7	ATF1	chr22:23208195-23208865	K562	blood:	n/a	n/a
8	ATF1	chr22:23178289-23179177	K562	blood:	n/a	n/a
9	ATF1	chr22:23202075-23202247	K562	blood:	n/a	n/a
10	ATF1	chr22:23182682-23182828	K562	blood:	n/a	n/a
11	ATF1	chr22:23172635-23172845	K562	blood:	n/a	n/a
12	ATF1	chr22:23162146-23162529	K562	blood:	n/a	n/a
13	ATF1	chr22:23189882-23189945	K562	blood:	n/a	n/a
14	ATF1	chr22:23233172-23233190	K562	blood:	n/a	n/a
15	ATF1	chr22:23232791-23232914	K562	blood:	n/a	n/a
16	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
17	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
18	ATF1	chr22:23166948-23167148	K562	blood:	n/a	n/a
19	ATF1	chr22:23155091-23155700	K562	blood:	n/a	n/a
20	ATF1	chr22:23210661-23211009	K562	blood:	n/a	n/a
21	ATF1	chr22:23209457-23209711	K562	blood:	n/a	n/a
22	ATF1	chr22:23213112-23213543	K562	blood:	n/a	n/a
23	ATF1	chr22:23158393-23159026	K562	blood:	n/a	n/a
24	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
25	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
26	ATF1	chr22:23194742-23194752	K562	blood:	n/a	n/a
27	ATF1	chr22:23205769-23206087	K562	blood:	n/a	n/a
28	ATF1	chr22:23186155-23186439	K562	blood:	n/a	n/a
29	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
30	ATF1	chr22:23206769-23207349	K562	blood:	n/a	n/a
31	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
32	ATF1	chr22:23205123-23205389	K562	blood:	n/a	n/a
33	ATF1	chr22:23167850-23168098	K562	blood:	n/a	n/a
34	ATF1	chr22:23195676-23195779	K562	blood:	n/a	n/a
35	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
36	ATF1	chr22:23203233-23203487	K562	blood:	n/a	n/a
37	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
38	ATF1	chr22:23180385-23181176	K562	blood:	n/a	n/a
39	ATF1	chr22:23169293-23169433	K562	blood:	n/a	n/a
40	ATF2	chr22:23243556-23245167	GM12878	blood:	n/a	n/a
41	ATF2	chr22:23241920-23242220	GM12878	blood:	n/a	n/a
42	ATF2	chr22:23248930-23250295	GM12878	blood:	n/a	n/a
43	ATF2	chr22:23243571-23245290	GM12878	blood:	n/a	n/a
44	ATF2	chr22:23245204-23245644	GM12878	blood:	n/a	n/a
45	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
46	ATF3	chr22:23178709-23179244	K562	blood:	n/a	n/a
47	ATF3	chr22:23219670-23220342	K562	blood:	n/a	n/a
48	ATF3	chr22:23190296-23191433	K562	blood:	n/a	chr22:23190369-23190383
49	ATF3	chr22:23178745-23179139	K562	blood:	n/a	n/a
50	ATF3	chr22:23197336-23198191	K562	blood:	n/a	chr22:23198051-23198060

(count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23196971-23197021	HCT-116	colon:	n/a
2	chr22:23196971-23197021	HCT-116	colon:	n/a
3	chr22:23196971-23197021	RPTEC	kidney:	n/a
4	chr22:23196862-23196912	HCM	heart:	n/a
5	chr22:23196862-23196912	AoSMC	blood vessel:	n/a
6	chr22:23196862-23196912	NHBE	bronchial:	n/a
7	chr22:23196971-23197021	H1-hESC	embryonic stem cell:	embryo
8	chr22:23196971-23197021	HUVEC	blood vessel:	n/a
9	chr22:23196862-23196912	HIPEpiC	eye:	n/a
10	chr22:23196971-23197021	SK-N-MC	brain:	n/a
11	chr22:23196862-23196912	SKMC	muscle:	n/a
12	chr22:23196971-23197021	HEK293	kidney:	embryo
13	chr22:23196862-23196912	NHDF-neo	bronchial:	n/a
14	chr22:23196862-23196912	T-47D	breast:	n/a
15	chr22:23196971-23197021	Caco-2	colon:	n/a
16	chr22:23196971-23197021	HRPEpiC	eye:	n/a
17	chr22:23196862-23196912	HCT-116	colon:	n/a
18	chr22:23196971-23197021	GM06990	blood:	n/a
19	chr22:23196971-23197021	CMK	blood:	n/a
20	chr22:23196862-23196912	AG04450	lung:	fetal
21	chr22:23196971-23197021	AG09319	gingival:	n/a
22	chr22:23196971-23197021	HIPEpiC	eye:	n/a
23	chr22:23196971-23197021	AG10803	skin:	n/a
24	chr22:23196862-23196912	Jurkat	blood:	n/a
25	chr22:23196971-23197021	AG04449	skin:	fetal
26	chr22:23196971-23197021	NHDF-neo	bronchial:	n/a
27	chr22:23196971-23197021	HCM	heart:	n/a
28	chr22:23196971-23197021	AG04450	lung:	fetal
29	chr22:23196971-23197021	AG09309	skin:	n/a
30	chr22:23196862-23196912	Hela-S3	cervix:	n/a
31	chr22:23196971-23197021	NHBE	bronchial:	n/a
32	chr22:23196971-23197021	PFSK-1	brain:	n/a
33	chr22:23196971-23197021	SKMC	muscle:	n/a
34	chr22:23196862-23196912	NT2-D1	testis:	n/a
35	chr22:23196862-23196912	HepG2	liver:	n/a
36	chr22:23196862-23196912	PANC-1	pancreas:	n/a
37	chr22:23196862-23196912	PFSK-1	brain:	n/a
38	chr22:23196971-23197021	PANC-1	pancreas:	n/a
39	chr22:23196862-23196912	AG10803	skin:	n/a
40	chr22:23196971-23197021	BE2_C	brain:	n/a
41	chr22:23196862-23196912	Caco-2	colon:	n/a
42	chr22:23196862-23196912	HRE	kidney:	n/a
43	chr22:23196971-23197021	Hela-S3	cervix:	n/a
44	chr22:23196971-23197021	Hepatocyte	liver:	n/a
45	chr22:23196862-23196912	LNCaP	prostate:	n/a
46	chr22:23196862-23196912	CMK	blood:	n/a
47	chr22:23196971-23197021	AoSMC	blood vessel:	n/a
48	chr22:23196971-23197021	ECC-1	luminal epithelium:	n/a
49	chr22:23196971-23197021	LNCaP	prostate:	n/a
50	chr22:23196971-23197021	BJ	skin:	n/a

(count:219 , 50 per page) page: 1 2 3 4 5

No.	Distal block	Cell Line	Cell type
1	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
2	chr22:23193197..23194197-chr22:23219310..23220284,2	K562	blood:
3	chr22:23184287..23186851-chr22:23189473..23192216,2	MCF-7	breast:
4	chr22:23175286..23177452-chr22:23191943..23195481,3	K562	blood:
5	chr22:23159718..23160596-chr22:23297843..23298719,2	K562	blood:
6	chr22:23211318..23214381-chr22:23235118..23238549,3	K562	blood:
7	chr22:23190259..23191261-chr22:23297702..23298682,5	MCF-7	breast:
8	chr22:23221725..23222375-chr22:23284654..23285494,2	K562	blood:
9	chr22:23202890..23204399-chr22:23210498..23213311,2	K562	blood:
10	chr22:23181478..23184287-chr22:23201719..23203304,2	K562	blood:
11	chr22:23152432..23153103-chr22:23254207..23254852,2	K562	blood:
12	chr22:22936305..22937460-chr22:23225859..23226791,3	K562	blood:
13	chr22:22929141..22930076-chr22:23197585..23198490,2	K562	blood:
14	chr22:23087878..23088754-chr22:23225788..23226383,4	K562	blood:
15	chr22:23196132..23197336-chr22:23225306..23226816,4	K562	blood:
16	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
17	chr22:23190267..23191637-chr22:23219306..23220272,3	MCF-7	breast:
18	chr22:23168657..23170784-chr22:23171805..23174406,4	K562	blood:
19	chr22:23112086..23113814-chr22:23188708..23190847,2	K562	blood:
20	chr22:23251853..23252558-chr22:23295506..23296354,3	MCF-7	breast:
21	chr22:23190268..23191337-chr22:23284651..23285662,10	K562	blood:
22	chr22:23226023..23226801-chr22:23284702..23285609,3	MCF-7	breast:
23	chr22:23221267..23223203-chr22:23236416..23239424,3	K562	blood:
24	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
25	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
26	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
27	chr22:22776723..22777608-chr22:23219224..23219850,2	K562	blood:
28	chr22:23212457..23213190-chr22:23224646..23225546,2	K562	blood:
29	chr22:23130644..23132267-chr22:23201558..23203139,2	K562	blood:
30	chr22:23143333..23145097-chr22:23222921..23225680,2	K562	blood:
31	chr22:23211841..23214589-chr22:23214813..23217953,3	K562	blood:
32	chr22:23167865..23170224-chr22:23177807..23180113,2	K562	blood:
33	chr22:23209213..23217761-chr22:23218680..23225752,11	K562	blood:
34	chr22:23153953..23157348-chr22:23159325..23163829,7	K562	blood:
35	chr22:23183438..23186320-chr22:23270023..23271683,2	K562	blood:
36	chr22:23164487..23167017-chr22:23176059..23177602,2	K562	blood:
37	chr22:23168417..23171309-chr22:23221199..23223793,3	K562	blood:
38	chr22:23202890..23204399-chr22:23210498..23213311,2	K562	blood:
39	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
40	chr22:23130412..23130917-chr22:23197633..23198506,2	K562	blood:
41	chr22:23095758..23096682-chr22:23190267..23191347,4	K562	blood:
42	chr22:22818502..22819097-chr22:23225816..23226413,3	K562	blood:
43	chr22:23214687..23215524-chr22:23225845..23226401,2	K562	blood:
44	chr22:23211841..23214589-chr22:23214813..23217953,3	K562	blood:
45	chr22:23197561..23198498-chr22:23225909..23226760,4	MCF-7	breast:
46	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
47	chr22:23198020..23198527-chr22:23209390..23209956,2	K562	blood:
48	chr22:23225783..23226678-chr22:23297796..23299190,3	MCF-7	breast:
49	chr22:22938082..22938758-chr22:23190706..23191621,2	K562	blood:
50	chr22:23197409..23198941-chr22:23225846..23227235,10	K562	blood:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POM121L1P-5	chr22:23165262-23165535	refGeneNc_260_NR_028483
2	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
3	lnc-RTDR1-6	chr22:23220011-23220059	NONHSAT083832
4	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
5	lnc-IGLL5-4	chr22:23192550-23192799	NONHSAT083828
6	lnc-POM121L1P-5	chr22:23167960-23168108	refGeneNc_260_NR_028483
7	lnc-POM121L1P-5	chr22:23220658-23220783	refGeneNc_260_NR_028483
8	lnc-POM121L1P-5	chr22:23164245-23164726	refGeneNc_260_NR_028483
9	lnc-IGLL5-7	chr22:23157168-23157423	NONHSAT083824
10	lnc-POM121L1P-5	chr22:23186421-23186739	refGeneNc_260_NR_028483
11	lnc-POM121L1P-5	chr22:23178179-23178296	refGeneNc_260_NR_028483
12	lnc-IGLL5-5	chr22:23180779-23181049	NONHSAT083827
13	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
14	lnc-POM121L1P-4	chr22:23155178-23156344	ucscGeneNc_uc002zzz_1
15	lnc-RTDR1-6	chr22:23221233-23221684	NONHSAT083832
16	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
17	lnc-POM121L1P-5	chr22:23200951-23201121	refGeneNc_260_NR_028483
18	lnc-POM121L1P-5	chr22:23197736-23197863	refGeneNc_260_NR_028483
19	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
20	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
21	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
22	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835

miRNA name	Chromosome Location	mirBase accession
hsa-miR-650	chr22:23165285-23165305	MIMAT0003320
hsa-miR-5571-5p	chr22:23228471-23228491	MIMAT0022257
hsa-miR-5571-3p	chr22:23228511-23228529	MIMAT0022258

No data

Variant related genes	Relation type
ENSG00000264824	TF binding region
IGLV3-7	TF binding region
MIR650	TF binding region
ENSG00000226477	TF binding region
ENSG00000207832	TF binding region
IGLV4-3	TF binding region
IGLJ5	TF binding region
IGLV3-2	TF binding region
IGLC7	TF binding region
IGLV3-4	TF binding region
ENSG00000237127	TF binding region
IGLJ7	TF binding region
IGLC1	TF binding region
IGLV3-6	TF binding region
IGLV2-5	TF binding region
IGLJ6	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLJ2	TF binding region
IGLV2-8	TF binding region
IGLC5	TF binding region
IGLV3-10	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLC6	TF binding region
IGLV3-9	TF binding region
IGLV3-1	TF binding region
IGLJ1	TF binding region
IGLC2	TF binding region
ENSG00000264824	CpG island
IGLV3-7	CpG island
MIR650	CpG island
ENSG00000226477	CpG island
ENSG00000207832	CpG island
IGLV4-3	CpG island
IGLJ5	CpG island
IGLV3-2	CpG island
IGLC7	CpG island
IGLV3-4	CpG island
ENSG00000237127	CpG island
IGLJ7	CpG island
IGLC1	CpG island
IGLV3-6	CpG island
IGLV2-5	CpG island
IGLJ6	CpG island
IGLJ4	CpG island
IGLC4	CpG island
IGLJ2	CpG island
IGLV2-8	CpG island
IGLC5	CpG island
IGLV3-10	CpG island
IGLL5	CpG island
IGLJ3	CpG island
IGLC3	CpG island
IGLC6	CpG island
IGLV3-9	CpG island
IGLV3-1	CpG island
IGLJ1	CpG island
IGLC2	CpG island
ENSG00000211685	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000253448	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000223999	chromatin interactions
ENSG00000254029	chromatin interactions
ENSG00000211670	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000254077	chromatin interactions
ENSG00000211669	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000226477	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000264824	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000207836	chromatin interactions
ENSG00000211671	chromatin interactions
ENSG00000211672	chromatin interactions
ING4	Mature miRNA region

Extended variants
information (count: 7420 )
Associated
traits (count: 218 )

Variant overlapped rSNPs/rCNVs (count:7420 , 50 per page) page: 1 2 3 4 5 6 7 ... 149

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16993225	chr22:23154058-23154059	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs554126356	chr22:23154086-23154087	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs372868262	chr22:23154094-23154095	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs577476224	chr22:23154134-23154135	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs539417176	chr22:23154144-23154145	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs556543879	chr22:23154188-23154189	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs117484210	chr22:23154240-23154241	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs111855104	chr22:23154251-23154252	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs542331947	chr22:23154252-23154253	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs113075125	chr22:23154325-23154326	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs112575400	chr22:23154326-23154327	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs528067217	chr22:23154327-23154328	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs562207987	chr22:23154329-23154330	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs572221030	chr22:23154356-23154357	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs186438520	chr22:23154382-23154383	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs564191295	chr22:23154389-23154390	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533279303	chr22:23154404-23154405	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs549834005	chr22:23154411-23154412	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs373022045	chr22:23154412-23154413	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs563277325	chr22:23154417-23154418	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs528897936	chr22:23154422-23154423	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548665441	chr22:23154425-23154426	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs565440500	chr22:23154429-23154430	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs534086784	chr22:23154440-23154441	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs546311752	chr22:23154442-23154443	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs377258664	chr22:23154448-23154449	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs368719174	chr22:23154454-23154455	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113900626	chr22:23154460-23154461	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs556620450	chr22:23154469-23154470	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs576500413	chr22:23154472-23154473	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs113120186	chr22:23154473-23154474	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs112924359	chr22:23154474-23154475	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs555854869	chr22:23154484-23154485	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572588135	chr22:23154492-23154493	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs375929086	chr22:23154493-23154494	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs369262412	chr22:23154494-23154495	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs528904124	chr22:23154497-23154498	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs373476057	chr22:23154498-23154499	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs557911779	chr22:23154503-23154504	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376634559	chr22:23154507-23154508	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs548753300	chr22:23154509-23154510	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369553539	chr22:23154512-23154513	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs146205286	chr22:23154515-23154516	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs374290391	chr22:23154516-23154517	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs563291552	chr22:23154521-23154522	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs528813341	chr22:23154537-23154538	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs376476919	chr22:23154538-23154539	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542225944	chr22:23154540-23154541	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs558992257	chr22:23154544-23154545	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs182282578	chr22:23154549-23154550	Enhancers Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:218)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Velocardiofacial syndrome	20111667	CNVD
Medulloblastoma	21979893	CNVD
sporadic solitary meningiomas	19589153	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Autism	22495311	CNVD
Emanuel syndrome	21549014	CNVD
Digeorge syndrome	22283845	CNVD
Schizophrenia	17504246	CNVD
Digeorge syndrome	18033723	CNVD
22q11 deletion syndrome	17034021	CNVD
22q11 deletion syndrome	22511897	CNVD
22q11 deletion syndrome	16829213	CNVD
Autism	22067053	CNVD
Autism	19218893	CNVD
Biliary cancer	22067053	CNVD
Congenital heart defect	21390462	CNVD
Digeorge syndrome	16617304	CNVD
Emanuel syndrome	18184694	CNVD
Non-syndromic sensorineural hearing loss	18184694	CNVD
Obsessive-compulsive disorder	22067053	CNVD
Psychosis	22067053	CNVD
Schizophrenia	19415332	CNVD
Schizophrenia	20587603	CNVD
Shprintzen syndrome	19443537	CNVD
absent pulmonary valve syndrome	16795129	CNVD
language delay	22067053	CNVD
periventricular nodular heterotopia	20648244	CNVD
renal disease	17924346	CNVD
Schizophrenia	20433910	CNVD
22q11 deletion syndrome	17028864	CNVD
Schizophrenia	16969581	CNVD
Non-syndromic sensorineural hearing loss	17135275	CNVD
velo-cardio-facial syndrome	17135275	CNVD
Digeorge syndrome	18787571	CNVD
Autism	18925931	CNVD
Non-small cell lung cancer	21829676	CNVD
22q11.2 microdeletion syndrome	21547621	CNVD
Congenital heart defect	21308838	CNVD
Digeorge syndrome	16512914	CNVD
Digeorge syndrome	20954168	CNVD
Nuchal translucency	21837766	CNVD
Right aortic arch in the fetus	17066500	CNVD
Shprintzen syndrome	17117043	CNVD
Tetralogy of fallot	17405110	CNVD
Velocardiofacial syndrome	20140301	CNVD
Velocardiofacial syndrome	16512914	CNVD
bone mass and metabolism	20516202	CNVD
choanal atresia	18209138	CNVD
extracardiac malformations	17086578	CNVD
fetal heart defects	21308838	CNVD
parathyroid gland dysfunction	16793949	CNVD
prenatal diagnosis	20453657	CNVD
velopharyngeal insufficiency	19620585	CNVD
Prader-willi syndrome	20942916	CNVD
22q11 deletion syndrome	17653112	CNVD
Chronic myelomonocytic leukemia	16760666	CNVD
Non-syndromic sensorineural hearing loss	16829213	CNVD
Non-syndromic sensorineural hearing loss	16760666	CNVD
Chordoma	21602918	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Congenital heart defect	22511896	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Seminomas	18059402	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Metachromatic leukodystrophy	18421352	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Breast cancer	21858162	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cat eye syndrome	21549014	CNVD
Digeorge syndrome	21549014	CNVD
22q11.2 microdeletion syndrome	22051516	CNVD
22q11.2 microdeletion syndrome	18483005	CNVD
22q11.2 microdeletion syndrome	19565140	CNVD
22q11.2 microdeletion syndrome	20396437	CNVD
22q11.2 microdeletion syndrome	21390462	CNVD
22q11.2 microdeletion syndrome	21573985	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Congenital heart defect	21257016	CNVD
Developmental delay	18414209	CNVD
DiGeorge-Velo cardiofacial	19284877	CNVD
Epilepsy	20970697	CNVD
Heart disease	20551144	CNVD
Hughes'' syndrome	16595601	CNVD
Mental retardation	18414209	CNVD
Okamoto syndrome	19046188	CNVD
Primary immunodeficiency	22566803	CNVD
Schizophrenia	20877625	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Tetralogy of Fallot	22912587	CNVD
Velocardiofacial syndrome	17556857	CNVD
Velocardiofacial syndrome	20206275	CNVD
Velocardiofacial syndrome	20970697	CNVD
delayed speech development	21274400	CNVD
velo-cardio-facial syndrome	16511839	CNVD
velo-cardio-facial syndrome	21763005	CNVD
22q11.2 microdeletion syndrome	18799940	CNVD
Digeorge syndrome	20877625	CNVD
22q11.2 microdeletion syndrome	18923514	CNVD
Congenital heart defect	22185286	CNVD
DiGeorge-Velo cardiofacial	16773131	CNVD
Digeorge syndrome	20186050	CNVD
velo-cardio-facial conotruncal-face syndrome	20186050	CNVD
22q11.2 microdeletion syndrome	22116936	CNVD
Disorders of sex development	22290220	CNVD
22q11.2 duplication syndrome	18923514	CNVD
Autism	22095694	CNVD
Mental retardation	19951919	CNVD
Honadal dysgenesis	21048976	CNVD
Mental retardation	16773131	CNVD
22q11.2 microdeletion syndrome	22395003	CNVD
22q11.2 microdeletion syndrome	18691436	CNVD
22q11.2 microdeletion syndrome	18053182	CNVD
22q11.2 microdeletion syndrome	18324686	CNVD
22q11.2 microdeletion syndrome	20074913	CNVD
Congenital heart defect	20802965	CNVD
Congenital heart defect	21134246	CNVD
DiGeorge syndrome	19040613	CNVD
DiGeorge-Velo cardiofacial	18179902	CNVD
Digeorge syndrome	18172682	CNVD
Digeorge syndrome	22470819	CNVD
Digeorge syndrome	21364285	CNVD
Neuroendocrine carcinoma	22470819	CNVD
Non-syndromic sensorineural hearing loss	20069674	CNVD
Smith-Magenis syndrome	18301319	CNVD
Tetralogy of fallot	19144126	CNVD
Velo-cardio-facial syndrome	21364285	CNVD
Velocardiofacial syndrome	18788013	CNVD
cardiac malformation	20573211	CNVD
cardiac malformation	18172682	CNVD
velo-cardio-facial syndrome	18636631	CNVD
Schizophrenia	21822266	CNVD
synaptic plasticity	21368174	CNVD
Schizophrenia	18043741	CNVD
sporadic birth defects	19047251	CNVD
Autism	19046189	CNVD
DiGeorge-Velo cardiofacial	19047251	CNVD
Hypernasal speech	21968682	CNVD
Mental retardation	17339581	CNVD
diverse phenotype	16760730	CNVD
Mental retardation	20152051	CNVD
Breast cancer	16608533	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	22174824	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Wilms tumour	21544195	CNVD
Acute myeloid leukemia	21251322	CNVD
DiGeorge-Velo cardiofacial	17597781	CNVD
Digeorge syndrome	17576883	CNVD
Schizophrenia	18806272	CNVD
Schizophrenia	18990708	CNVD
Velocardiofacial syndrome	17576883	CNVD
Schizophrenia	20075378	CNVD
Neurodevelopmental disorder	17015230	CNVD
Neuropsychiatric disorder	20069037	CNVD
Williams-beuren syndrome	18553513	CNVD
Emphysema	19352772	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Disease	21346257	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Asthma	21956041	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	21128281	CNVD
Systemic lupus erythematosus	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
22q11.23 microdeletion syndrome	19193630	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Chronic myeloid leukemia	21384125	CNVD
Autism	20841430	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:767 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23144400-23157800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr22:23152200-23161200	Enhancers	Primary T cells fromperipheralblood	blood
3	chr22:23152400-23154400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr22:23152400-23154600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr22:23152400-23155200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr22:23152400-23155400	Enhancers	Primary B cells from peripheral blood	blood
7	chr22:23152400-23156800	Strong transcription	Right Atrium	heart
8	chr22:23152800-23156400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr22:23153200-23157400	Weak transcription	Thymus	Thymus
10	chr22:23153200-23157600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr22:23153400-23163000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr22:23153600-23154600	Weak transcription	Fetal Thymus	thymus
13	chr22:23153600-23155200	Enhancers	Primary B cells from cord blood	blood
14	chr22:23153600-23155200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr22:23153600-23155800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:23153600-23156000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr22:23153600-23156800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr22:23153800-23155000	Enhancers	GM12878-XiMat	blood
19	chr22:23153800-23156800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr22:23153800-23157800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr22:23154000-23154800	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr22:23154000-23158000	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr22:23154200-23155600	Weak transcription	Primary T cells from cord blood	blood
24	chr22:23154400-23154800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:23154600-23155200	Enhancers	Fetal Thymus	thymus
26	chr22:23154600-23155800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr22:23154600-23157600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr22:23154800-23155000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr22:23154800-23155800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr22:23154800-23155800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr22:23154800-23156400	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr22:23155000-23155600	Enhancers	Brain Hippocampus Middle	brain
33	chr22:23155000-23157000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:23155000-23158200	Weak transcription	GM12878-XiMat	blood
35	chr22:23155200-23156200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:23155200-23157200	Weak transcription	Fetal Thymus	thymus
37	chr22:23155200-23157600	Weak transcription	Primary B cells from cord blood	blood
38	chr22:23155200-23160800	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr22:23155600-23156000	Enhancers	Primary T cells from cord blood	blood
40	chr22:23155800-23157200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr22:23155800-23161400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr22:23156000-23156600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr22:23156000-23157400	Weak transcription	Primary T cells from cord blood	blood
44	chr22:23156200-23161400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:23156400-23157200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr22:23156400-23157400	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr22:23156600-23157000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr22:23156800-23158600	Weak transcription	Right Atrium	heart
49	chr22:23156800-23161200	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr22:23156800-23161600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links