Variant report

Variant	nsv1065323
Chromosome Location	chr22:23221846-23275341
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1326)
CpG islands
(count:0)
Chromatin interactive
region (count:102)
LncRNA
region (count:10)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1326 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23258750-23259076	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23226039-23226556	K562	blood:	n/a	n/a
3	ARID3A	chr22:23232773-23233217	K562	blood:	n/a	n/a
4	ATF1	chr22:23232791-23232914	K562	blood:	n/a	n/a
5	ATF1	chr22:23234038-23234184	K562	blood:	n/a	n/a
6	ATF1	chr22:23249632-23250275	K562	blood:	n/a	n/a
7	ATF1	chr22:23246000-23246189	K562	blood:	n/a	n/a
8	ATF1	chr22:23254917-23254918	K562	blood:	n/a	n/a
9	ATF1	chr22:23239585-23239595	K562	blood:	n/a	n/a
10	ATF1	chr22:23262737-23263489	K562	blood:	n/a	n/a
11	ATF1	chr22:23233172-23233190	K562	blood:	n/a	n/a
12	ATF1	chr22:23253446-23253456	K562	blood:	n/a	n/a
13	ATF1	chr22:23270547-23272244	K562	blood:	n/a	n/a
14	ATF1	chr22:23223851-23224186	K562	blood:	n/a	n/a
15	ATF1	chr22:23266964-23266992	K562	blood:	n/a	n/a
16	ATF1	chr22:23252055-23252437	K562	blood:	n/a	n/a
17	ATF1	chr22:23251232-23251667	K562	blood:	n/a	n/a
18	ATF2	chr22:23241920-23242220	GM12878	blood:	n/a	n/a
19	ATF2	chr22:23270734-23271601	GM12878	blood:	n/a	n/a
20	ATF2	chr22:23273248-23273796	GM12878	blood:	n/a	n/a
21	ATF2	chr22:23248930-23250295	GM12878	blood:	n/a	n/a
22	ATF2	chr22:23245204-23245644	GM12878	blood:	n/a	n/a
23	ATF2	chr22:23270597-23271768	GM12878	blood:	n/a	n/a
24	ATF2	chr22:23248892-23250514	GM12878	blood:	n/a	n/a
25	ATF2	chr22:23243571-23245290	GM12878	blood:	n/a	n/a
26	ATF2	chr22:23273903-23274587	GM12878	blood:	n/a	n/a
27	ATF2	chr22:23243556-23245167	GM12878	blood:	n/a	n/a
28	ATF2	chr22:23273983-23274459	GM12878	blood:	n/a	n/a
29	ATF3	chr22:23270541-23271262	K562	blood:	n/a	n/a
30	ATF3	chr22:23268441-23268917	K562	blood:	n/a	chr22:23268625-23268635
31	BACH1	chr22:23261304-23261342	K562	blood:	n/a	n/a
32	BACH1	chr22:23265361-23265362	K562	blood:	n/a	n/a
33	BACH1	chr22:23235604-23235617	K562	blood:	n/a	n/a
34	BACH1	chr22:23259715-23259720	K562	blood:	n/a	n/a
35	BATF	chr22:23242547-23242788	GM12878	blood:	n/a	n/a
36	BATF	chr22:23242924-23243123	GM12878	blood:	n/a	n/a
37	BATF	chr22:23274036-23274442	GM12878	blood:	n/a	n/a
38	BATF	chr22:23241823-23242071	GM12878	blood:	n/a	n/a
39	BATF	chr22:23243646-23244483	GM12878	blood:	n/a	n/a
40	BATF	chr22:23270934-23271250	GM12878	blood:	n/a	chr22:23271120-23271130 chr22:23271115-23271126 chr22:23271116-23271126
41	BATF	chr22:23270779-23271374	GM12878	blood:	n/a	chr22:23271120-23271130 chr22:23271115-23271126 chr22:23271116-23271126
42	BATF	chr22:23243142-23243591	GM12878	blood:	n/a	n/a
43	BATF	chr22:23247193-23247431	GM12878	blood:	n/a	n/a
44	BATF	chr22:23248534-23248947	GM12878	blood:	n/a	n/a
45	BCL11A	chr22:23270885-23271275	GM12878	blood:	n/a	chr22:23271010-23271019
46	BCL11A	chr22:23274059-23274393	GM12878	blood:	n/a	chr22:23274243-23274252
47	BCL11A	chr22:23247624-23250417	GM12878	blood:	n/a	chr22:23248333-23248341
48	BCL11A	chr22:23247178-23247521	GM12878	blood:	n/a	n/a
49	BCL11A	chr22:23274000-23274473	GM12878	blood:	n/a	chr22:23274243-23274252
50	BCL11A	chr22:23241808-23242192	GM12878	blood:	n/a	n/a

No data

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr22:23225838..23226619-chr22:23284830..23285631,2	MCF-7	breast:
2	chr22:23245468..23247565-chr22:23249258..23251335,3	K562	blood:
3	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
4	chr22:23190657..23191158-chr22:23221234..23221856,2	MCF-7	breast:
5	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
6	chr22:23236796..23239209-chr22:23258890..23261514,2	K562	blood:
7	chr22:23211923..23213773-chr22:23255638..23258101,2	K562	blood:
8	chr22:23270409..23272197-chr22:23283086..23285103,2	K562	blood:
9	chr22:23197561..23198498-chr22:23225909..23226760,4	MCF-7	breast:
10	chr22:23238067..23240289-chr22:23256904..23258643,2	K562	blood:
11	chr22:23221282..23222436-chr22:23297430..23298768,6	K562	blood:
12	chr22:23209213..23217761-chr22:23218680..23225752,11	K562	blood:
13	chr22:23254052..23256994-chr22:23268482..23271052,2	K562	blood:
14	chr22:23221725..23222375-chr22:23284654..23285494,2	K562	blood:
15	chr22:23237456..23241868-chr22:23242613..23249057,9	K562	blood:
16	chr22:23192808..23196826-chr22:23225644..23227911,5	K562	blood:
17	chr22:23237287..23240210-chr22:23254703..23257164,2	K562	blood:
18	chr22:23062316..23063283-chr22:23225816..23226768,5	K562	blood:
19	chr22:22785953..22786488-chr22:23225806..23226411,2	K562	blood:
20	chr22:23249849..23250456-chr22:23284637..23285518,2	K562	blood:
21	chr22:23219235..23219863-chr22:23270722..23271390,2	K562	blood:
22	chr22:23221267..23223203-chr22:23236416..23239424,3	K562	blood:
23	chr22:23225847..23226777-chr22:23297600..23298339,3	K562	blood:
24	chr22:23246871..23249530-chr22:23253643..23256082,2	K562	blood:
25	chr22:23231973..23234722-chr22:23268972..23271345,2	MCF-7	breast:
26	chr22:23219728..23223013-chr22:23223632..23226175,4	K562	blood:
27	chr22:23248970..23251030-chr22:23266059..23268328,2	K562	blood:
28	chr22:23261117..23263641-chr22:23264707..23267231,3	K562	blood:
29	chr22:23029760..23030722-chr22:23225908..23226768,3	K562	blood:
30	chr22:23269604..23273139-chr22:23273414..23276481,4	K562	blood:
31	chr22:23230851..23232657-chr22:23258084..23260097,2	K562	blood:
32	chr22:23212457..23213190-chr22:23224646..23225546,2	K562	blood:
33	chr22:23190687..23191337-chr22:23223552..23224057,2	K562	blood:
34	chr22:23054239..23055029-chr22:23225832..23226341,2	K562	blood:
35	chr22:23225783..23226678-chr22:23297796..23299190,3	MCF-7	breast:
36	chr22:23226023..23226801-chr22:23284702..23285609,3	MCF-7	breast:
37	chr22:23151728..23153719-chr22:23225682..23227093,23	K562	blood:
38	chr22:23176262..23178458-chr22:23233013..23234828,2	K562	blood:
39	chr22:23271545..23273567-chr22:23289644..23291552,2	K562	blood:
40	chr22:23203006..23203931-chr22:23230116..23230981,2	K562	blood:
41	chr22:23190306..23191721-chr22:23225246..23226597,7	MCF-7	breast:
42	chr22:23196132..23197336-chr22:23225306..23226816,4	K562	blood:
43	chr22:22815066..22815979-chr22:23225208..23226122,2	K562	blood:
44	chr22:23157854..23159575-chr22:23265576..23269716,3	K562	blood:
45	chr22:23144541..23145485-chr22:23225200..23227241,8	K562	blood:
46	chr22:23249788..23251920-chr22:23270655..23273406,3	K562	blood:
47	chr22:23221668..23222214-chr22:23295526..23296047,2	MCF-7	breast:
48	chr22:23197409..23198941-chr22:23225846..23227235,10	K562	blood:
49	chr22:23266292..23268666-chr22:23279796..23283281,3	K562	blood:
50	chr22:23087878..23088754-chr22:23225788..23226383,4	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RTDR1-4	chr22:23262147-23262154	NONHSAT083834
2	lnc-RTDR1-4	chr22:23264978-23265153	NONHSAT083834
3	lnc-RTDR1-1	chr22:23248506-23248831	NONHSAT083775
4	lnc-RTDR1-4	chr22:23242926-23243073	NONHSAT083834
5	lnc-RTDR1-4	chr22:23243491-23243570	NONHSAT083834
6	lnc-D87017.1-2	chr22:23257805-23258097	NONHSAT083836
7	lnc-D87017.1-3	chr22:23252998-23253245	NONHSAT083835
8	lnc-RTDR1-4	chr22:23261700-23261973	NONHSAT083834
9	lnc-RTDR1-4	chr22:23243305-23243327	NONHSAT083834
10	lnc-RTDR1-4	chr22:23264861-23264965	NONHSAT083834

miRNA name	Chromosome Location	mirBase accession
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
IGLJ5	TF binding region
IGLC7	TF binding region
IGLJ7	TF binding region
IGLC1	TF binding region
IGLJ6	TF binding region
IGLJ2	TF binding region
IGLJ1	TF binding region
IGLJ4	TF binding region
IGLC4	TF binding region
IGLC5	TF binding region
IGLL5	TF binding region
IGLJ3	TF binding region
IGLC3	TF binding region
IGLC6	TF binding region
IGLV3-1	TF binding region
IGLC2	TF binding region
ENSG00000223999	chromatin interactions
ENSG00000211680	chromatin interactions
ENSG00000254030	chromatin interactions
ENSG00000211657	chromatin interactions
ENSG00000226420	chromatin interactions
ENSG00000211673	chromatin interactions
ENSG00000211679	chromatin interactions
ENSG00000211672	chromatin interactions
ENSG00000253234	chromatin interactions
ENSG00000211681	chromatin interactions
ENSG00000211676	chromatin interactions
ENSG00000211655	chromatin interactions
ENSG00000211682	chromatin interactions
ENSG00000211675	chromatin interactions
ENSG00000211685	chromatin interactions
ENSG00000237127	chromatin interactions
ENSG00000211678	chromatin interactions
ENSG00000211663	chromatin interactions
ENSG00000211674	chromatin interactions
ENSG00000207832	chromatin interactions
ENSG00000222037	chromatin interactions
ENSG00000211684	chromatin interactions
ENSG00000211677	chromatin interactions
ENSG00000253963	chromatin interactions
ENSG00000254029	chromatin interactions

Extended variants
information (count: 4971 )
Associated
traits (count: 216 )

Variant overlapped rSNPs/rCNVs (count:4971 , 50 per page) page: 1 2 3 4 5 6 7 ... 100

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13055946	chr22:23221869-23221870	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550543142	chr22:23221877-23221878	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs111347384	chr22:23221900-23221901	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs146214910	chr22:23221904-23221905	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs139659256	chr22:23221981-23221982	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs543623358	chr22:23222019-23222020	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs563436245	chr22:23222050-23222051	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs180897693	chr22:23222112-23222113	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs573902899	chr22:23222114-23222115	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542860689	chr22:23222157-23222158	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs559396580	chr22:23222202-23222203	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs383391	chr22:23222208-23222209	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs369928488	chr22:23222244-23222245	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs551118761	chr22:23222260-23222261	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs564624595	chr22:23222269-23222270	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs530487699	chr22:23222273-23222274	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550284418	chr22:23222286-23222287	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs186431415	chr22:23222290-23222291	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs535683459	chr22:23222293-23222294	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs114759555	chr22:23222305-23222306	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs189370058	chr22:23222315-23222316	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs566294073	chr22:23222331-23222332	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs534993539	chr22:23222389-23222390	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs558215453	chr22:23222392-23222393	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs578080015	chr22:23222407-23222408	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs537511748	chr22:23222410-23222411	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs557493690	chr22:23222416-23222417	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs573839342	chr22:23222426-23222427	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs542496815	chr22:23222427-23222428	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs559594831	chr22:23222428-23222429	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs573090084	chr22:23222429-23222430	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs181733583	chr22:23222431-23222432	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs564511535	chr22:23222444-23222445	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs530427876	chr22:23222445-23222446	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs144434495	chr22:23222453-23222454	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs560693538	chr22:23222469-23222470	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs529487677	chr22:23222484-23222485	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs444812	chr22:23222486-23222487	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs566344985	chr22:23222561-23222562	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs146146054	chr22:23222562-23222563	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs552121844	chr22:23222587-23222588	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs185956490	chr22:23222605-23222606	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs56891590	chr22:23222611-23222612	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs537451847	chr22:23222675-23222676	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs5759499	chr22:23222677-23222678	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs528635577	chr22:23222680-23222681	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs557479684	chr22:23222681-23222682	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs148809731	chr22:23222694-23222695	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs538218522	chr22:23222715-23222716	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs536433202	chr22:23222727-23222728	Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:216)

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
small cell lung cancer	20016488	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	17989066	CNVD

Chromatin state (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23219600-23227000	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:23219800-23224800	Enhancers	Thymus	Thymus
3	chr22:23219800-23228200	Enhancers	Fetal Thymus	thymus
4	chr22:23220000-23223200	Weak transcription	Right Atrium	heart
5	chr22:23221200-23226800	Enhancers	Dnd41	blood
6	chr22:23221800-23227400	Enhancers	Primary B cells from cord blood	blood
7	chr22:23221800-23227800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:23223000-23223600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr22:23223000-23225000	Enhancers	Spleen	Spleen
10	chr22:23223000-23225200	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr22:23223200-23223600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:23223200-23223800	Strong transcription	Right Atrium	heart
13	chr22:23223400-23223600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr22:23223400-23226800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:23223600-23224600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:23223800-23224800	Bivalent Enhancer	Fetal Stomach	stomach
17	chr22:23223800-23226200	Weak transcription	Right Atrium	heart
18	chr22:23224400-23224600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr22:23224400-23224600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr22:23224600-23224800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr22:23224800-23225600	Weak transcription	Thymus	Thymus
22	chr22:23225000-23231000	Weak transcription	Spleen	Spleen
23	chr22:23225200-23225600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr22:23225600-23226800	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr22:23225600-23227200	Enhancers	Thymus	Thymus
26	chr22:23226200-23227400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
27	chr22:23226200-23227600	Enhancers	Fetal Muscle Leg	muscle
28	chr22:23226200-23227800	Strong transcription	Right Atrium	heart
29	chr22:23226400-23227200	Enhancers	Duodenum Mucosa	Duodenum
30	chr22:23226600-23226800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
31	chr22:23226600-23227000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:23226600-23227200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr22:23226600-23227200	Enhancers	GM12878-XiMat	blood
34	chr22:23226600-23227600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr22:23226600-23227800	Enhancers	HSMMtube	muscle
36	chr22:23226800-23227000	Enhancers	Rectal Mucosa Donor 29	rectum
37	chr22:23226800-23227200	Flanking Active TSS	Dnd41	blood
38	chr22:23226800-23227200	Enhancers	HSMM	muscle
39	chr22:23226800-23228000	Enhancers	Primary hematopoietic stem cells	blood
40	chr22:23227000-23227600	Enhancers	Primary T cells from cord blood	blood
41	chr22:23227000-23227800	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr22:23227200-23227400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:23227200-23227400	Flanking Active TSS	Thymus	Thymus
44	chr22:23227200-23227600	Enhancers	Dnd41	blood
45	chr22:23227200-23230000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:23227400-23228000	Enhancers	Thymus	Thymus
47	chr22:23227400-23228400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr22:23227600-23228200	Flanking Active TSS	Dnd41	blood
49	chr22:23227800-23228600	Weak transcription	Right Atrium	heart
50	chr22:23227800-23229200	Enhancers	Primary B cells from peripheral blood	blood

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