Variant report

Variant	nsv831437
Chromosome Location	chr1:147234607-147392992
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1431)
CpG islands
(count:1467)
Chromatin interactive
region (count:147)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1431 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:147323221-147323706	HepG2	liver:	n/a	n/a
2	ARID3A	chr1:147280155-147280630	HepG2	liver:	n/a	n/a
3	ARID3A	chr1:147287788-147287850	K562	blood:	n/a	n/a
4	ATF1	chr1:147283979-147283988	K562	blood:	n/a	n/a
5	ATF1	chr1:147323378-147323664	K562	blood:	n/a	n/a
6	ATF1	chr1:147364897-147365149	K562	blood:	n/a	n/a
7	ATF1	chr1:147293156-147293271	K562	blood:	n/a	n/a
8	ATF3	chr1:147323244-147323730	K562	blood:	n/a	n/a
9	ATF3	chr1:147280132-147280418	HepG2	liver:	n/a	n/a
10	BACH1	chr1:147391111-147391487	K562	blood:	n/a	n/a
11	BACH1	chr1:147305765-147305846	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr1:147309256-147309748	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr1:147362408-147362705	H1-hESC	embryonic stem cell:	n/a	n/a
14	BATF	chr1:147376945-147377173	GM12878	blood:	n/a	n/a
15	BATF	chr1:147376853-147377213	GM12878	blood:	n/a	n/a
16	BCL3	chr1:147321530-147321918	GM12878	blood:	n/a	n/a
17	BCL3	chr1:147366452-147366707	GM12878	blood:	n/a	n/a
18	BCL3	chr1:147366341-147366721	GM12878	blood:	n/a	n/a
19	BCL3	chr1:147311445-147311805	GM12878	blood:	n/a	n/a
20	BHLHE40	chr1:147314786-147315093	K562	blood:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
21	BHLHE40	chr1:147280178-147280382	HepG2	liver:	n/a	n/a
22	BHLHE40	chr1:147362395-147362585	K562	blood:	n/a	n/a
23	BHLHE40	chr1:147280127-147280501	HepG2	liver:	n/a	n/a
24	BHLHE40	chr1:147362476-147362595	GM12878	blood:	n/a	n/a
25	BHLHE40	chr1:147314816-147315023	HepG2	liver:	n/a	chr1:147314922-147314931 chr1:147314921-147314930 chr1:147314922-147314931 chr1:147314916-147314937
26	BRCA1	chr1:147391493-147391618	GM12878	blood:	n/a	n/a
27	BRCA1	chr1:147362338-147362700	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr1:147273148-147273197	Hela-S3	cervix:	n/a	chr1:147273166-147273173
29	BRCA1	chr1:147362461-147362786	HepG2	liver:	n/a	n/a
30	CBX3	chr1:147323338-147323739	K562	blood:	n/a	n/a
31	CCNT2	chr1:147320063-147320309	K562	blood:	n/a	n/a
32	CEBPB	chr1:147354442-147354528	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr1:147259655-147259937	HepG2	liver:	n/a	n/a
34	CEBPB	chr1:147362385-147362585	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:147277448-147277776	HepG2	liver:	n/a	n/a
36	CEBPB	chr1:147280132-147280751	A549	lung:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
37	CEBPB	chr1:147324930-147325087	HepG2	liver:	n/a	chr1:147325017-147325028
38	CEBPB	chr1:147247214-147247439	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr1:147280134-147280507	H1-hESC	embryonic stem cell:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
40	CEBPB	chr1:147269626-147269645	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr1:147385834-147386021	HepG2	liver:	n/a	chr1:147385912-147385923
42	CEBPB	chr1:147279582-147279829	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr1:147324913-147325090	Hela-S3	cervix:	n/a	chr1:147325017-147325028
44	CEBPB	chr1:147280153-147280499	K562	blood:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
45	CEBPB	chr1:147259715-147259949	A549	lung:	n/a	n/a
46	CEBPB	chr1:147259630-147259998	MCF-7	breast:	n/a	n/a
47	CEBPB	chr1:147280141-147280538	HepG2	liver:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
48	CEBPB	chr1:147277511-147277661	HepG2	liver:	n/a	n/a
49	CEBPB	chr1:147280103-147280524	Hela-S3	cervix:	n/a	chr1:147280320-147280331 chr1:147280273-147280284
50	CEBPB	chr1:147259741-147259892	K562	blood:	n/a	n/a

(count:1467 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:147246329-147246379	H1-hESC	embryonic stem cell:	embryo
2	chr1:147380398-147380448	HNPCEpiC	eye:	n/a
3	chr1:147374967-147375017	BJ	skin:	n/a
4	chr1:147246329-147246379	H1-hESC	embryonic stem cell:	embryo
5	chr1:147380398-147380448	HNPCEpiC	eye:	n/a
6	chr1:147374967-147375017	BJ	skin:	n/a
7	chr1:147374967-147375017	AG10803	skin:	n/a
8	chr1:147245626-147245676	ovcar-3	ovarian:	n/a
9	chr1:147309347-147309397	HL-60	blood:	n/a
10	chr1:147384040-147384090	H1-hESC	embryonic stem cell:	embryo
11	chr1:147245168-147245218	ovcar-3	ovarian:	n/a
12	chr1:147374967-147375017	HAEpiC	amniotic membrane:	n/a
13	chr1:147320855-147320905	Hepatocyte	liver:	n/a
14	chr1:147309347-147309397	Hela-S3	cervix:	n/a
15	chr1:147374967-147375017	CMK	blood:	n/a
16	chr1:147374967-147375017	NH-A	brain:	n/a
17	chr1:147380334-147380384	AG10803	skin:	n/a
18	chr1:147380038-147380088	MCF10A-Er-Src	breast:	n/a
19	chr1:147246839-147246889	HIPEpiC	eye:	n/a
20	chr1:147246329-147246379	HCT-116	colon:	n/a
21	chr1:147384040-147384090	NH-A	brain:	n/a
22	chr1:147374847-147374897	K562	blood:	n/a
23	chr1:147381390-147381440	Jurkat	blood:	n/a
24	chr1:147245626-147245676	ECC-1	luminal epithelium:	n/a
25	chr1:147253401-147253451	HRPEpiC	eye:	n/a
26	chr1:147245485-147245535	T-47D	breast:	n/a
27	chr1:147374938-147374988	ProgFib	skin:	n/a
28	chr1:147373572-147373622	GM12891	blood:	n/a
29	chr1:147379676-147379726	GM12878	blood:	n/a
30	chr1:147246839-147246889	LNCaP	prostate:	n/a
31	chr1:147246839-147246889	AG04450	lung:	fetal
32	chr1:147374938-147374988	HRCEpiC	kidney:	n/a
33	chr1:147381390-147381440	IMR90	lung:	fetal
34	chr1:147374847-147374897	Hepatocyte	liver:	n/a
35	chr1:147320855-147320905	HCPEpiC	choroid plexus:	n/a
36	chr1:147380211-147380261	HIPEpiC	eye:	n/a
37	chr1:147245485-147245535	GM06990	blood:	n/a
38	chr1:147320855-147320905	AG09309	skin:	n/a
39	chr1:147381390-147381440	HCPEpiC	choroid plexus:	n/a
40	chr1:147245168-147245218	NHDF-neo	bronchial:	n/a
41	chr1:147381390-147381440	BE2_C	brain:	n/a
42	chr1:147384040-147384090	CMK	blood:	n/a
43	chr1:147379676-147379726	HCM	heart:	n/a
44	chr1:147374967-147375017	PrEC	prostate:	n/a
45	chr1:147380398-147380448	IMR90	lung:	fetal
46	chr1:147253401-147253451	HCM	heart:	n/a
47	chr1:147384040-147384090	T-47D	breast:	n/a
48	chr1:147379676-147379726	Caco-2	colon:	n/a
49	chr1:147374847-147374897	GM12878	blood:	n/a
50	chr1:147246154-147246204	HRCEpiC	kidney:	n/a

(count:147 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr1:147361673..147363377-chr1:147366820..147368975,3	K562	blood:
2	chr1:147356167..147359488-chr1:147360237..147364967,4	K562	blood:
3	chr1:147348553..147350573-chr1:147355843..147358338,2	K562	blood:
4	chr1:147257526..147261196-chr1:147263496..147265511,3	MCF-7	breast:
5	chr1:147315587..147317893-chr1:147319705..147321568,2	MCF-7	breast:
6	chr1:147248547..147250748-chr1:147270374..147272494,2	MCF-7	breast:
7	chr1:147383526..147385434-chr1:147389217..147390933,2	K562	blood:
8	chr1:147258662..147261590-chr1:147270902..147273169,3	MCF-7	breast:
9	chr1:147172045..147172666-chr1:147364545..147365473,2	MCF-7	breast:
10	chr1:147111761..147113944-chr1:147357488..147359944,2	MCF-7	breast:
11	chr1:147318368..147320787-chr1:147321471..147323177,2	K562	blood:
12	chr1:147380965..147383476-chr1:147385560..147388569,3	K562	blood:
13	chr1:147306922..147308460-chr1:147311767..147313691,2	K562	blood:
14	chr1:147245849..147248322-chr1:147252642..147255104,2	MCF-7	breast:
15	chr1:147312773..147313832-chr1:147361986..147362979,7	MCF-7	breast:
16	chr1:147348553..147350573-chr1:147355843..147358338,2	K562	blood:
17	chr1:147216774..147217411-chr1:147362235..147362885,2	K562	blood:
18	chr1:147194515..147197013-chr1:147361402..147365473,61	MCF-7	breast:
19	chr1:147360617..147363079-chr1:147363200..147366053,2	MCF-7	breast:
20	chr1:147287314..147288194-chr1:147312838..147313452,2	MCF-7	breast:
21	chr1:147380965..147383476-chr1:147385560..147388569,3	K562	blood:
22	chr1:147361673..147363377-chr1:147366820..147368975,3	K562	blood:
23	chr1:147367307..147370280-chr1:147373797..147375775,3	MCF-7	breast:
24	chr1:147113491..147114459-chr1:147364114..147365461,7	MCF-7	breast:
25	chr1:147365216..147366740-chr1:147366806..147368719,2	MCF-7	breast:
26	chr1:147235840..147238345-chr1:147247832..147250076,2	MCF-7	breast:
27	chr1:147190469..147193203-chr1:147339308..147341475,2	MCF-7	breast:
28	chr1:147247003..147248756-chr1:147253569..147255678,2	K562	blood:
29	chr1:147320130..147322346-chr1:147324928..147326678,2	MCF-7	breast:
30	chr1:147196156..147196754-chr1:147364745..147365855,4	K562	blood:
31	chr1:147252565..147254194-chr1:147257728..147259512,2	MCF-7	breast:
32	chr1:147306497..147308637-chr1:147308840..147310925,2	MCF-7	breast:
33	chr1:147247003..147248756-chr1:147253569..147255678,2	K562	blood:
34	chr1:147290796..147294633-chr1:147295711..147299117,4	K562	blood:
35	chr1:147229847..147231847-chr1:147237550..147240548,2	MCF-7	breast:
36	chr1:147343972..147346618-chr1:147346953..147349715,3	MCF-7	breast:
37	chr1:147276129..147278611-chr1:147279190..147281299,2	MCF-7	breast:
38	chr1:147384361..147386129-chr1:147392472..147394344,2	MCF-7	breast:
39	chr1:147194857..147197261-chr1:147362926..147365705,2	MCF-7	breast:
40	chr1:147383526..147385434-chr1:147389217..147390933,2	K562	blood:
41	chr1:147368859..147371195-chr1:147375961..147377852,2	MCF-7	breast:
42	chr1:147280614..147282894-chr1:147286254..147288918,3	K562	blood:
43	chr1:147254319..147256959-chr1:147257613..147260137,2	K562	blood:
44	chr1:147195370..147197758-chr1:147352674..147354271,2	MCF-7	breast:
45	chr1:147275715..147278808-chr1:147281982..147285305,3	K562	blood:
46	chr1:147313489..147315540-chr1:147360218..147362457,2	K562	blood:
47	chr1:147383934..147385482-chr1:147388298..147390717,2	K562	blood:
48	chr1:146966674..146967846-chr1:147362060..147362896,3	MCF-7	breast:
49	chr1:147362725..147364848-chr1:147367105..147371754,4	MCF-7	breast:
50	chr1:147224461..147227120-chr1:147242032..147244708,3	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA8-1	chr1:147264755-147267415	XLOC_000387
2	lnc-GJA8-1	chr1:147249700-147249833	XLOC_000387
3	lnc-GJA8-1	chr1:147260720-147261065	XLOC_000387
4	lnc-GJA5-2	chr1:147283214-147283468	XLOC_001007
5	lnc-GJA8-1	chr1:147249689-147249833	XLOC_000387
6	lnc-GJA5-2	chr1:147281915-147282433	XLOC_001007

No data

Variant related genes	Relation type
GJA5	TF binding region
ENSG00000223728	TF binding region
ENSG00000234190	TF binding region
GJA8	TF binding region
GJA5	CpG island
ENSG00000223728	CpG island
ENSG00000234190	CpG island
GJA8	CpG island
ENSG00000121634	chromatin interactions
ENSG00000234190	chromatin interactions
ENSG00000162836	chromatin interactions
ENSG00000234482	chromatin interactions
ENSG00000223728	chromatin interactions
ENSG00000143140	chromatin interactions

Extended variants
information (count: 4806 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:4806 , 50 per page) page: 1 2 3 4 5 6 7 ... 97

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs791273	chr1:147234618-147234619	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371989711	chr1:147234723-147234724	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs587648202	chr1:147234736-147234737	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs587699482	chr1:147234760-147234761	Enhancers Flanking Active TSS Weak transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs183790028	chr1:147234893-147234894	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12409131	chr1:147234915-147234916	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs35949551	chr1:147234950-147234951	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs376855170	chr1:147234952-147234953	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs587744166	chr1:147234954-147234955	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146205644	chr1:147235011-147235012	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs587669977	chr1:147235029-147235030	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377159002	chr1:147235050-147235051	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs587733422	chr1:147235074-147235075	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs138440535	chr1:147235101-147235102	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142945517	chr1:147235156-147235157	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs36098134	chr1:147235158-147235159	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs587725967	chr1:147235193-147235194	Enhancers Weak transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs188137215	chr1:147235242-147235243	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs587630303	chr1:147235261-147235262	Weak transcription Enhancers Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs587685532	chr1:147235315-147235316	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs146166543	chr1:147235317-147235318	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs587689307	chr1:147235333-147235334	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs587749463	chr1:147235338-147235339	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs139988775	chr1:147235449-147235450	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs587690387	chr1:147235523-147235524	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11240122	chr1:147235547-147235548	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs369222486	chr1:147235578-147235579	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs791272	chr1:147235595-147235596	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs77689426	chr1:147235692-147235693	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs587619091	chr1:147235806-147235807	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs587652677	chr1:147235863-147235864	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs587705533	chr1:147235864-147235865	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs587598752	chr1:147235871-147235872	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs12726385	chr1:147235930-147235931	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs79807124	chr1:147235936-147235937	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs375657571	chr1:147235960-147235961	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs587667987	chr1:147235977-147235978	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs112125899	chr1:147235997-147235998	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs180855202	chr1:147236009-147236010	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs587607981	chr1:147236014-147236015	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs57096279	chr1:147236050-147236051	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs185885798	chr1:147236059-147236060	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs587608463	chr1:147236212-147236213	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs587692351	chr1:147236216-147236217	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs2047280	chr1:147236233-147236234	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs189760824	chr1:147236234-147236235	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs2047279	chr1:147236285-147236286	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144687067	chr1:147236315-147236316	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs181864376	chr1:147236352-147236353	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79977093	chr1:147236461-147236462	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	21129771	CNVD
Non-small cell lung cancer	21385341	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Ewing''s sarcoma	21437220	CNVD
Liposarcoma	21253554	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Breast cancer	20409316	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Lung cancer	18438408	CNVD
Rett syndrome	21593744	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Systemic lupus erythematosus	21956041	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	17899364	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21611746	CNVD
Retinoblastoma	19183342	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22499536	CNVD
Schizophrenia	18923514	CNVD
Neuroblastoma	21124317	CNVD
Autism	20970697	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	20970697	CNVD
Schizophrenia	22118685	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	21285140	CNVD
Schizophrenia	20553308	CNVD
Schizophrenia	21956041	CNVD
Schizophrenia	20970697	CNVD
Addison''s disease	21851588	CNVD
Heart disease	22199024	CNVD
Mental retardation	19951919	CNVD
Ovarian cancer	20844748	CNVD
Schizophrenia	21399695	CNVD
Prostate cancer	17217626	CNVD
Congenital heart defect	22199024	CNVD
TAR Syndrome	17847015	CNVD
Thrombocytopenia-absent radius syndrome	17236129	CNVD
Autism	18784092	CNVD
Congenital abnormalities	18784092	CNVD
Mental retardation	18784092	CNVD
Schizophrenia	19855392	CNVD
Ovarian cancer	22174824	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Ewing''s sarcoma	17952124	CNVD
Osteosarcoma	19286668	CNVD
Osteosarcoma	17242211	CNVD
Ovarian cancer	17242211	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Schizophrenia	18990708	CNVD
Sudden cardiac death	19188705	CNVD
Plasma-cell dyscrasia	16705089	CNVD
Myeloma	17024118	CNVD
Cancer	17060936	CNVD
Multiple myeloma	16616336	CNVD
Type 2 diabetes	19141583	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	18703704	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21509527	CNVD
Tetralogy of Fallot	22912587	CNVD
Bladder cancer	21909424	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Schizophrenia	20967226	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20369283	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Pancreatic cancer	17952125	CNVD
Obesity	21131291	CNVD
Melanoma	21430779	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD
Neuroblastoma	19536264	CNVD
Pancreatic cancer	21811587	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:946 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:147228600-147235200	Enhancers	Right Atrium	heart
2	chr1:147230000-147235200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:147231800-147235400	Enhancers	Right Ventricle	heart
4	chr1:147231800-147235800	Enhancers	Adipose Nuclei	Adipose
5	chr1:147232000-147234800	Enhancers	Left Ventricle	heart
6	chr1:147232000-147235400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:147232000-147235600	Enhancers	Skeletal Muscle Male	skeletal muscle
8	chr1:147232200-147234800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:147232200-147235400	Enhancers	NHEK	skin
10	chr1:147232200-147235800	Enhancers	Fetal Muscle Leg	muscle
11	chr1:147232400-147235600	Enhancers	Spleen	Spleen
12	chr1:147232600-147235000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:147232600-147235200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:147232800-147235200	Enhancers	Placenta	Placenta
15	chr1:147232800-147235200	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:147232800-147235400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:147232800-147235400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:147232800-147235400	Enhancers	HMEC	breast
19	chr1:147232800-147235800	Enhancers	Psoas Muscle	Psoas
20	chr1:147232800-147236000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:147233000-147235600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr1:147233000-147235800	Enhancers	Aorta	Aorta
23	chr1:147233000-147236200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:147233000-147238200	Genic enhancers	Fetal Lung	lung
25	chr1:147233600-147234800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:147233600-147235800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr1:147233600-147236000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr1:147233600-147236000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:147233600-147236000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:147233600-147236400	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:147233800-147235600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr1:147233800-147237600	Weak transcription	Lung	lung
33	chr1:147234000-147235000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:147234000-147235400	Enhancers	Primary B cells from cord blood	blood
35	chr1:147234000-147235800	Enhancers	Primary hematopoietic stem cells	blood
36	chr1:147234200-147235800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr1:147234200-147235800	Enhancers	HUVEC	blood vessel
38	chr1:147234200-147236000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr1:147234400-147234800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr1:147234400-147234800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr1:147234400-147234800	Flanking Active TSS	Fetal Heart	heart
42	chr1:147234400-147235000	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr1:147234400-147235000	Flanking Active TSS	Hela-S3	cervix
44	chr1:147234400-147235200	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr1:147234400-147235400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr1:147234400-147235400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:147234400-147235600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:147234400-147235600	Enhancers	Fetal Thymus	thymus
49	chr1:147234400-147235800	Enhancers	Fetal Kidney	kidney
50	chr1:147234600-147234800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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