Variant report

Variant	nsv588598
Chromosome Location	chr22:23530168-23638025
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3867)
CpG islands
(count:427)
Chromatin interactive
region (count:161)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3867 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr22:23558893-23559394	HepG2	liver:	n/a	n/a
2	ARID3A	chr22:23565431-23566530	K562	blood:	n/a	n/a
3	ARID3A	chr22:23561036-23561236	HepG2	liver:	n/a	n/a
4	ARID3A	chr22:23590682-23590947	K562	blood:	n/a	n/a
5	ARID3A	chr22:23548027-23548111	HepG2	liver:	n/a	n/a
6	ARID3A	chr22:23529370-23530237	K562	blood:	n/a	n/a
7	ARID3A	chr22:23623998-23624403	K562	blood:	n/a	n/a
8	ARID3A	chr22:23593841-23594423	K562	blood:	n/a	n/a
9	ARID3A	chr22:23589287-23589676	HepG2	liver:	n/a	n/a
10	ARID3A	chr22:23561930-23563449	K562	blood:	n/a	n/a
11	ARID3A	chr22:23556031-23556584	K562	blood:	n/a	n/a
12	ATF1	chr22:23570598-23570874	K562	blood:	n/a	n/a
13	ATF1	chr22:23552705-23553283	K562	blood:	n/a	n/a
14	ATF1	chr22:23593701-23594487	K562	blood:	n/a	n/a
15	ATF1	chr22:23582966-23583350	K562	blood:	n/a	n/a
16	ATF1	chr22:23538952-23539529	K562	blood:	n/a	n/a
17	ATF1	chr22:23568531-23570141	K562	blood:	n/a	n/a
18	ATF1	chr22:23584147-23585614	K562	blood:	n/a	n/a
19	ATF2	chr22:23584602-23585292	H1-hESC	embryonic stem cell:	n/a	n/a
20	ATF2	chr22:23584576-23585594	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr22:23623698-23624235	GM12878	blood:	n/a	n/a
22	ATF3	chr22:23593361-23594591	K562	blood:	n/a	chr22:23593950-23593964 chr22:23593948-23593961 chr22:23593948-23593959 chr22:23593951-23593958 chr22:23593951-23593959 chr22:23593948-23593961 chr22:23593950-23593958 chr22:23593947-23593962 chr22:23593949-23593960 chr22:23593951-23593962 chr22:23593950-23593961
23	ATF3	chr22:23546672-23547819	K562	blood:	n/a	n/a
24	ATF3	chr22:23547826-23548330	K562	blood:	n/a	n/a
25	ATF3	chr22:23539641-23541079	K562	blood:	n/a	chr22:23540244-23540253
26	ATF3	chr22:23538322-23538831	K562	blood:	n/a	n/a
27	ATF3	chr22:23585282-23585815	K562	blood:	n/a	n/a
28	ATF3	chr22:23553860-23555910	K562	blood:	n/a	n/a
29	ATF3	chr22:23611908-23612943	K562	blood:	n/a	chr22:23612085-23612105
30	ATF3	chr22:23575988-23576514	K562	blood:	n/a	n/a
31	ATF3	chr22:23623210-23625093	K562	blood:	n/a	n/a
32	ATF3	chr22:23585263-23585590	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF3	chr22:23606414-23607117	K562	blood:	n/a	n/a
34	ATF3	chr22:23602172-23602876	K562	blood:	n/a	chr22:23602503-23602516
35	ATF3	chr22:23604059-23604595	K562	blood:	n/a	n/a
36	ATF3	chr22:23585350-23585501	GM12878	blood:	n/a	n/a
37	ATF3	chr22:23602885-23603397	K562	blood:	n/a	n/a
38	ATF3	chr22:23612001-23612174	GM12878	blood:	n/a	chr22:23612085-23612105
39	ATF3	chr22:23631376-23632787	K562	blood:	n/a	chr22:23631379-23631392
40	ATF3	chr22:23621765-23622507	K562	blood:	n/a	n/a
41	ATF3	chr22:23591609-23594592	K562	blood:	n/a	chr22:23593950-23593964 chr22:23593948-23593961 chr22:23593948-23593959 chr22:23593951-23593958 chr22:23593951-23593959 chr22:23593948-23593961 chr22:23593950-23593958 chr22:23593947-23593962 chr22:23593949-23593960 chr22:23593951-23593962 chr22:23593950-23593961
42	ATF3	chr22:23559921-23563283	K562	blood:	n/a	n/a
43	BACH1	chr22:23611860-23612219	H1-hESC	embryonic stem cell:	n/a	n/a
44	BACH1	chr22:23579254-23579494	K562	blood:	n/a	n/a
45	BACH1	chr22:23623867-23624235	H1-hESC	embryonic stem cell:	n/a	n/a
46	BACH1	chr22:23547763-23547959	K562	blood:	n/a	n/a
47	BACH1	chr22:23590600-23591164	K562	blood:	n/a	n/a
48	BACH1	chr22:23565314-23566753	K562	blood:	n/a	n/a
49	BACH1	chr22:23568414-23571811	K562	blood:	n/a	n/a
50	BACH1	chr22:23534463-23534663	H1-hESC	embryonic stem cell:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:23603351-23603401	ProgFib	skin:	n/a
2	chr22:23602765-23602815	HL-60	blood:	n/a
3	chr22:23607606-23607656	PrEC	prostate:	n/a
4	chr22:23602765-23602815	IMR90	lung:	fetal
5	chr22:23605330-23605380	HPAEpiC	pulmonary alveolar:	n/a
6	chr22:23607606-23607656	PANC-1	pancreas:	n/a
7	chr22:23606384-23606434	AoSMC	blood vessel:	n/a
8	chr22:23606384-23606434	HIPEpiC	eye:	n/a
9	chr22:23605330-23605380	HRCEpiC	kidney:	n/a
10	chr22:23602765-23602815	HRE	kidney:	n/a
11	chr22:23605330-23605380	HCM	heart:	n/a
12	chr22:23605411-23605461	HCF	heart:	n/a
13	chr22:23602765-23602815	SK-N-SH	brain:	n/a
14	chr22:23602765-23602815	SKMC	muscle:	n/a
15	chr22:23606384-23606434	A549	lung:	n/a
16	chr22:23602765-23602815	NHBE	bronchial:	n/a
17	chr22:23605330-23605380	HRE	kidney:	n/a
18	chr22:23603351-23603401	HMEC	breast:	n/a
19	chr22:23607606-23607656	HCF	heart:	n/a
20	chr22:23607606-23607656	AG09319	gingival:	n/a
21	chr22:23605411-23605461	Hepatocyte	liver:	n/a
22	chr22:23602765-23602815	HIPEpiC	eye:	n/a
23	chr22:23607606-23607656	HL-60	blood:	n/a
24	chr22:23605330-23605380	HCT-116	colon:	n/a
25	chr22:23605330-23605380	Caco-2	colon:	n/a
26	chr22:23607606-23607656	NHDF-neo	bronchial:	n/a
27	chr22:23607606-23607656	ECC-1	luminal epithelium:	n/a
28	chr22:23606384-23606434	IMR90	lung:	fetal
29	chr22:23606384-23606434	HepG2	liver:	n/a
30	chr22:23603351-23603401	RPTEC	kidney:	n/a
31	chr22:23603351-23603401	Jurkat	blood:	n/a
32	chr22:23605565-23605615	HEEpiC	esophagus:	n/a
33	chr22:23602765-23602815	HRCEpiC	kidney:	n/a
34	chr22:23602765-23602815	AG10803	skin:	n/a
35	chr22:23607606-23607656	Caco-2	colon:	n/a
36	chr22:23602765-23602815	GM19239	blood:	n/a
37	chr22:23607606-23607656	AG09309	skin:	n/a
38	chr22:23603351-23603401	Hepatocyte	liver:	n/a
39	chr22:23605411-23605461	HRCEpiC	kidney:	n/a
40	chr22:23605330-23605380	MCF-7	breast:	n/a
41	chr22:23605330-23605380	ovcar-3	ovarian:	n/a
42	chr22:23605330-23605380	AG04449	skin:	fetal
43	chr22:23603351-23603401	K562	blood:	n/a
44	chr22:23606384-23606434	AG04450	lung:	fetal
45	chr22:23605411-23605461	U87	brain:	n/a
46	chr22:23607606-23607656	HEK293	kidney:	embryo
47	chr22:23603351-23603401	AG04449	skin:	fetal
48	chr22:23606384-23606434	HCPEpiC	choroid plexus:	n/a
49	chr22:23603351-23603401	T-47D	breast:	n/a
50	chr22:23605411-23605461	SK-N-MC	brain:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr22:23190706..23191213-chr22:23623766..23624457,2	K562	blood:
2	chr22:23583033..23586852-chr22:23588137..23592281,4	MCF-7	breast:
3	chr22:23627103..23630736-chr9:133614856..133619063,5	K562	blood:
4	chr22:23628099..23629916-chr9:133611230..133613070,2	K562	blood:
5	chr22:23551178..23553343-chr9:133613306..133615089,2	K562	blood:
6	chr22:23511021..23511689-chr22:23623587..23624199,2	K562	blood:
7	chr22:23568645..23571293-chr22:23572654..23574460,2	MCF-7	breast:
8	chr22:23522042..23522707-chr22:23560595..23561441,2	K562	blood:
9	chr22:23630763..23634544-chr22:23636412..23640567,4	K562	blood:
10	chr22:23533489..23536061-chr22:23622372..23624122,2	MCF-7	breast:
11	chr22:23524791..23527515-chr22:23557976..23560778,2	MCF-7	breast:
12	chr22:23515729..23516735-chr22:23631823..23632868,6	K562	blood:
13	chr22:23520992..23525924-chr22:23533484..23536719,11	MCF-7	breast:
14	chr22:23520289..23523680-chr22:23623216..23625593,134	K562	blood:
15	chr22:23543179..23545939-chr22:23560834..23562452,2	MCF-7	breast:
16	chr22:23549882..23551868-chr22:23553345..23555891,2	MCF-7	breast:
17	chr22:23568645..23571293-chr22:23572654..23574460,2	MCF-7	breast:
18	chr22:23556699..23558232-chr22:23558323..23560690,2	MCF-7	breast:
19	chr22:23533236..23535920-chr22:23537412..23541871,4	MCF-7	breast:
20	chr22:23470319..23471746-chr22:23623633..23624628,4	K562	blood:
21	chr22:23537450..23540017-chr22:23544428..23546912,2	MCF-7	breast:
22	chr22:23516262..23516815-chr22:23622923..23623913,2	MCF-7	breast:
23	chr22:23520778..23521515-chr22:23623922..23624706,2	MCF-7	breast:
24	chr22:23520305..23521477-chr22:23623626..23624696,9	MCF-7	breast:
25	chr22:23561624..23565353-chr22:23567235..23570222,4	MCF-7	breast:
26	chr22:23622356..23623880-chr22:23626085..23628786,2	MCF-7	breast:
27	chr22:23519543..23521281-chr22:23587399..23590262,2	MCF-7	breast:
28	chr22:23030869..23033611-chr22:23628607..23631372,2	K562	blood:
29	chr22:23629945..23630802-chr9:133606657..133607628,2	K562	blood:
30	chr22:23520612..23521284-chr22:23637283..23637857,2	K562	blood:
31	chr22:23630763..23634544-chr22:23636412..23640567,4	K562	blood:
32	chr22:23628531..23630513-chr22:23630531..23632672,2	K562	blood:
33	chr22:23547111..23549576-chr22:23551724..23554199,2	MCF-7	breast:
34	chr22:23534743..23537175-chr22:23572328..23575055,2	MCF-7	breast:
35	chr22:23299672..23301787-chr22:23610820..23612474,2	K562	blood:
36	chr22:23552072..23554781-chr22:23555952..23559163,4	MCF-7	breast:
37	chr22:23534323..23535865-chr22:23538315..23540375,2	MCF-7	breast:
38	chr22:23515967..23516810-chr22:23623905..23625091,6	MCF-7	breast:
39	chr22:23562449..23565183-chr22:23566511..23568954,2	MCF-7	breast:
40	chr22:23545762..23547957-chr22:23547982..23550175,2	MCF-7	breast:
41	chr22:23592897..23595118-chr22:23596065..23598461,2	MCF-7	breast:
42	chr22:23515719..23516706-chr22:23629849..23630737,2	K562	blood:
43	chr22:23519910..23521360-chr22:23623104..23624706,17	MCF-7	breast:
44	chr22:23537450..23540017-chr22:23544428..23546912,2	MCF-7	breast:
45	chr22:23582030..23583624-chr22:23585268..23586883,2	MCF-7	breast:
46	chr22:23520909..23526395-chr22:23622717..23628021,9	MCF-7	breast:
47	chr22:23520350..23521289-chr22:23611618..23612941,3	K562	blood:
48	chr22:23301037..23302377-chr22:23623248..23624813,25	K562	blood:
49	chr22:23618828..23621252-chr9:133610362..133612451,2	K562	blood:
50	chr22:23607184..23609069-chr9:133645296..133647828,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RAB36-2	chr22:23540519-23540572	NONHSAT083862
2	lnc-RAB36-3	chr22:23606078-23606187	NONHSAT083871
3	lnc-RAB36-2	chr22:23541399-23541539	NONHSAT083863
4	lnc-RTDR1-3	chr22:23603971-23604258	NONHSAT083870
5	lnc-RAB36-4	chr22:23637228-23637342	NONHSAT083873
6	lnc-RAB36-2	chr22:23540520-23540572	NONHSAT083863
7	lnc-RAB36-2	chr22:23595986-23596020	NONHSAT083862
8	lnc-RAB36-2	chr22:23541398-23541539	NONHSAT083862
9	lnc-RAB36-3	chr22:23605880-23605982	NONHSAT083871
10	lnc-RAB36-2	chr22:23595987-23596020	NONHSAT083863

No data

Variant related genes	Relation type
FBXW4P1	TF binding region
BCR	TF binding region
RN7SL263P	TF binding region
FBXW4P1	CpG island
BCR	CpG island
RN7SL263P	CpG island
ENSG00000100228	chromatin interactions
ENSG00000240160	chromatin interactions
ENSG00000185686	chromatin interactions
ENSG00000232350	chromatin interactions
ENSG00000236794	chromatin interactions
ENSG00000186716	chromatin interactions
ENSG00000230701	chromatin interactions

Extended variants
information (count: 5048 )
Associated
traits (count: 212 )

Variant overlapped rSNPs/rCNVs (count:5048 , 50 per page) page: 1 2 3 4 5 6 7 ... 101

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2267009	chr22:23530168-23530169	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs576709143	chr22:23530213-23530214	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs542587990	chr22:23530224-23530225	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560567451	chr22:23530227-23530228	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs371950007	chr22:23530238-23530239	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs6003547	chr22:23530299-23530300	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs532367216	chr22:23530322-23530323	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs5996480	chr22:23530325-23530326	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569001248	chr22:23530329-23530330	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs184103072	chr22:23530387-23530388	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs548034338	chr22:23530429-23530430	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs375454867	chr22:23530431-23530432	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs713617	chr22:23530434-23530435	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs80155703	chr22:23530435-23530436	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs553497068	chr22:23530475-23530476	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs373061741	chr22:23530523-23530524	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs186138480	chr22:23530578-23530579	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs539254771	chr22:23530580-23530581	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs190603964	chr22:23530600-23530601	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs182841028	chr22:23530601-23530602	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs371813721	chr22:23530631-23530632	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544921297	chr22:23530644-23530645	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs117258892	chr22:23530685-23530686	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs114513895	chr22:23530687-23530688	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs574924678	chr22:23530714-23530715	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs572474500	chr22:23530778-23530779	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs187172565	chr22:23530843-23530844	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs560671956	chr22:23530868-23530869	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs145921627	chr22:23530894-23530895	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs192912076	chr22:23530907-23530908	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs535756362	chr22:23530919-23530920	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs28642105	chr22:23530923-23530924	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs541388798	chr22:23530951-23530952	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs373574553	chr22:23530952-23530953	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs398036609	chr22:23530961-23530962	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs13056850	chr22:23530962-23530963	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182796781	chr22:23530983-23530984	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs531363860	chr22:23531000-23531001	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs187914625	chr22:23531041-23531042	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs561644138	chr22:23531069-23531070	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs527316345	chr22:23531116-23531117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs539781989	chr22:23531125-23531126	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs192199011	chr22:23531140-23531141	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs570393416	chr22:23531179-23531180	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs539177738	chr22:23531204-23531205	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs78567573	chr22:23531229-23531230	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs79408000	chr22:23531230-23531231	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs12158986	chr22:23531278-23531279	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs569358359	chr22:23531281-23531282	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs538430429	chr22:23531338-23531339	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:212)

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
low-grade B-cell lymphoma tumor	18367492	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
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	17989066	CNVD
Cancer	20164919	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Li-fraumeni syndrome	18685109	CNVD
Breast cancer	20409316	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Cancer	19424424	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chronic myeloid leukemia	18641042	CNVD

Chromatin state (count:5442 , 50 per page) page: 1 2 3 4 5 6 7 ... 109

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23525600-23530200	Enhancers	Primary B cells from peripheral blood	blood
2	chr22:23525800-23530200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr22:23525800-23530600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr22:23526000-23535200	Weak transcription	Stomach Mucosa	stomach
5	chr22:23526000-23546000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr22:23526200-23530200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr22:23526200-23530200	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr22:23526200-23531000	Enhancers	Adipose Nuclei	Adipose
9	chr22:23526200-23535800	Weak transcription	Aorta	Aorta
10	chr22:23526200-23546800	Weak transcription	Colonic Mucosa	Colon
11	chr22:23526400-23530200	Enhancers	Fetal Brain Male	brain
12	chr22:23526400-23535000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr22:23526400-23536000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr22:23526400-23560800	Weak transcription	A549	lung
15	chr22:23526800-23530200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:23527000-23530800	Genic enhancers	K562	blood
17	chr22:23527000-23535600	Strong transcription	NHEK	skin
18	chr22:23527000-23536000	Weak transcription	HMEC	breast
19	chr22:23527000-23541400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr22:23527000-23547200	Weak transcription	Fetal Kidney	kidney
21	chr22:23527200-23530200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr22:23527200-23530200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr22:23527200-23534400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr22:23527200-23535600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr22:23527200-23535600	Strong transcription	Fetal Stomach	stomach
26	chr22:23527200-23536000	Weak transcription	HSMM	muscle
27	chr22:23527200-23545400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr22:23527200-23547000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:23527400-23530200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr22:23527400-23530800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr22:23527400-23533800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr22:23527400-23535200	Weak transcription	Fetal Lung	lung
33	chr22:23527400-23535400	Weak transcription	Hela-S3	cervix
34	chr22:23527400-23545400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr22:23527600-23530200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:23527600-23530200	Weak transcription	Esophagus	oesophagus
37	chr22:23527600-23530200	Weak transcription	Spleen	Spleen
38	chr22:23527600-23530600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr22:23527600-23530600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr22:23527600-23533800	Weak transcription	Primary T cells from cord blood	blood
41	chr22:23527600-23533800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr22:23527600-23541200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr22:23527600-23544200	Strong transcription	Fetal Intestine Small	intestine
44	chr22:23528200-23531200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr22:23528400-23530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:23528400-23530400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr22:23528400-23531000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr22:23528400-23531000	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr22:23528400-23533800	Weak transcription	Pancreas	Pancrea
50	chr22:23528400-23540600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links