Variant report

Variant	nsv916483
Chromosome Location	chr8:11590294-11672038
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3434)
CpG islands
(count:4092)
Chromatin interactive
region (count:138)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:3434 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr8:11670385-11670535	HepG2	liver:	n/a	n/a
2	ARID3A	chr8:11657809-11657977	HepG2	liver:	n/a	n/a
3	ARID3A	chr8:11645370-11645579	K562	blood:	n/a	n/a
4	ARID3A	chr8:11619843-11620241	K562	blood:	n/a	n/a
5	ARID3A	chr8:11593837-11594208	HepG2	liver:	n/a	n/a
6	ARID3A	chr8:11656441-11656736	HepG2	liver:	n/a	n/a
7	ARID3A	chr8:11660655-11661419	K562	blood:	n/a	n/a
8	ARID3A	chr8:11659794-11660028	HepG2	liver:	n/a	n/a
9	ARID3A	chr8:11598863-11599262	HepG2	liver:	n/a	n/a
10	ARID3A	chr8:11671599-11671984	HepG2	liver:	n/a	n/a
11	ARID3A	chr8:11627044-11627196	HepG2	liver:	n/a	n/a
12	ARID3A	chr8:11623052-11623321	HepG2	liver:	n/a	n/a
13	ARID3A	chr8:11666175-11666691	HepG2	liver:	n/a	n/a
14	ARID3A	chr8:11656609-11656929	K562	blood:	n/a	n/a
15	ARID3A	chr8:11659764-11660172	K562	blood:	n/a	n/a
16	ARID3A	chr8:11660241-11660402	HepG2	liver:	n/a	n/a
17	ATF1	chr8:11619815-11620181	K562	blood:	n/a	n/a
18	ATF1	chr8:11656586-11657065	K562	blood:	n/a	n/a
19	ATF1	chr8:11596994-11597321	K562	blood:	n/a	n/a
20	ATF2	chr8:11659666-11660052	H1-hESC	embryonic stem cell:	n/a	n/a
21	ATF2	chr8:11625945-11626417	GM12878	blood:	n/a	n/a
22	ATF2	chr8:11640315-11640753	GM12878	blood:	n/a	n/a
23	ATF3	chr8:11593779-11594182	A549	lung:	n/a	n/a
24	BACH1	chr8:11662812-11663108	K562	blood:	n/a	n/a
25	BACH1	chr8:11626951-11627031	H1-hESC	embryonic stem cell:	n/a	n/a
26	BACH1	chr8:11593913-11594214	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr8:11603906-11604207	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr8:11671211-11671244	K562	blood:	n/a	n/a
29	BACH1	chr8:11666079-11666400	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr8:11659730-11660126	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr8:11660680-11660740	H1-hESC	embryonic stem cell:	n/a	n/a
32	BATF	chr8:11656623-11656908	GM12878	blood:	n/a	n/a
33	BATF	chr8:11640162-11640797	GM12878	blood:	n/a	n/a
34	BATF	chr8:11640137-11640748	GM12878	blood:	n/a	n/a
35	BCL11A	chr8:11640167-11640814	GM12878	blood:	n/a	n/a
36	BCL11A	chr8:11626077-11626278	GM12878	blood:	n/a	n/a
37	BCL11A	chr8:11640194-11640825	GM12878	blood:	n/a	n/a
38	BCL3	chr8:11659384-11660037	A549	lung:	n/a	n/a
39	BCL3	chr8:11640322-11640744	GM12878	blood:	n/a	n/a
40	BCL3	chr8:11593615-11594247	A549	lung:	n/a	n/a
41	BCLAF1	chr8:11593836-11594246	GM12878	blood:	n/a	n/a
42	BCLAF1	chr8:11626877-11627490	GM12878	blood:	n/a	n/a
43	BCLAF1	chr8:11593780-11594170	GM12878	blood:	n/a	n/a
44	BCLAF1	chr8:11661566-11662077	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:11603768-11604225	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:11640338-11640744	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:11615028-11615339	K562	blood:	n/a	n/a
48	BHLHE40	chr8:11654927-11655030	K562	blood:	n/a	n/a
49	BHLHE40	chr8:11606456-11606707	K562	blood:	n/a	chr8:11606598-11606607 chr8:11606598-11606607 chr8:11606599-11606608
50	BHLHE40	chr8:11656691-11657024	K562	blood:	n/a	n/a

(count:4092 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11660109-11660159	ovcar-3	ovarian:	n/a
2	chr8:11627280-11627330	HCPEpiC	choroid plexus:	n/a
3	chr8:11597172-11597222	NHDF-neo	bronchial:	n/a
4	chr8:11640960-11641010	GM06990	blood:	n/a
5	chr8:11644644-11644694	ovcar-3	ovarian:	n/a
6	chr8:11660109-11660159	ovcar-3	ovarian:	n/a
7	chr8:11627280-11627330	HCPEpiC	choroid plexus:	n/a
8	chr8:11597172-11597222	NHDF-neo	bronchial:	n/a
9	chr8:11640960-11641010	GM06990	blood:	n/a
10	chr8:11644644-11644694	ovcar-3	ovarian:	n/a
11	chr8:11604273-11604323	PANC-1	pancreas:	n/a
12	chr8:11640960-11641010	U87	brain:	n/a
13	chr8:11668491-11668541	ProgFib	skin:	n/a
14	chr8:11627124-11627174	AG10803	skin:	n/a
15	chr8:11617293-11617343	Hepatocyte	liver:	n/a
16	chr8:11607693-11607743	BE2_C	brain:	n/a
17	chr8:11627480-11627530	CMK	blood:	n/a
18	chr8:11628346-11628396	GM12878	blood:	n/a
19	chr8:11627473-11627523	AG09319	gingival:	n/a
20	chr8:11616798-11616848	HepG2	liver:	n/a
21	chr8:11660733-11660783	HIPEpiC	eye:	n/a
22	chr8:11609706-11609756	MCF10A-Er-Src	breast:	n/a
23	chr8:11604273-11604323	HIPEpiC	eye:	n/a
24	chr8:11617305-11617355	LNCaP	prostate:	n/a
25	chr8:11659961-11660011	NB4	blood:	n/a
26	chr8:11644644-11644694	SK-N-MC	brain:	n/a
27	chr8:11660924-11660974	SKMC	muscle:	n/a
28	chr8:11627124-11627174	RPTEC	kidney:	n/a
29	chr8:11628430-11628480	PANC-1	pancreas:	n/a
30	chr8:11601603-11601653	HUVEC	blood vessel:	n/a
31	chr8:11660209-11660259	HNPCEpiC	eye:	n/a
32	chr8:11630219-11630269	SK-N-SH	brain:	n/a
33	chr8:11614472-11614522	SK-N-SH_RA	brain:	n/a
34	chr8:11619866-11619916	PFSK-1	brain:	n/a
35	chr8:11659497-11659547	T-47D	breast:	n/a
36	chr8:11659970-11660020	HMEC	breast:	n/a
37	chr8:11607557-11607607	SKMC	muscle:	n/a
38	chr8:11625883-11625933	HRE	kidney:	n/a
39	chr8:11609706-11609756	Hepatocyte	liver:	n/a
40	chr8:11601603-11601653	HEEpiC	esophagus:	n/a
41	chr8:11660614-11660664	GM12892	blood:	n/a
42	chr8:11627480-11627530	HAEpiC	amniotic membrane:	n/a
43	chr8:11666017-11666067	HPAEpiC	pulmonary alveolar:	n/a
44	chr8:11627480-11627530	ECC-1	luminal epithelium:	n/a
45	chr8:11630219-11630269	HAEpiC	amniotic membrane:	n/a
46	chr8:11668491-11668541	SK-N-SH_RA	brain:	n/a
47	chr8:11627019-11627069	AG09319	gingival:	n/a
48	chr8:11594003-11594053	IMR90	lung:	fetal
49	chr8:11614368-11614418	IMR90	lung:	fetal
50	chr8:11617293-11617343	SK-N-SH	brain:	n/a

(count:138 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr8:11602490..11604038-chr8:11606565..11608594,2	K562	blood:
2	chr8:11658864..11661745-chr8:11724576..11726431,3	MCF-7	breast:
3	chr8:11625684..11627765-chr8:11645905..11648269,2	K562	blood:
4	chr8:11625966..11628578-chr8:11704558..11706433,2	MCF-7	breast:
5	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
6	chr8:11628045..11631391-chr8:11641711..11643829,4	K562	blood:
7	chr8:11665243..11667469-chr8:11710761..11712863,3	MCF-7	breast:
8	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
9	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:
10	chr8:11663591..11666285-chr8:11668539..11672798,5	K562	blood:
11	chr17:41465211..41466190-chr8:11659722..11660251,2	Hela-S3	cervix:
12	chr8:11637260..11639168-chr8:11645099..11647488,2	MCF-7	breast:
13	chr8:11640779..11643782-chr8:11659893..11662754,3	MCF-7	breast:
14	chr8:11652587..11657894-chr8:11658127..11661459,7	K562	blood:
15	chr8:11650636..11652578-chr8:11653838..11655597,2	K562	blood:
16	chr8:11594028..11596357-chr8:11603341..11605570,2	K562	blood:
17	chr8:11624784..11628111-chr8:11660073..11663416,4	MCF-7	breast:
18	chr8:11422289..11424857-chr8:11598109..11600598,2	MCF-7	breast:
19	chr8:11659663..11662114-chr8:11670043..11672183,2	K562	blood:
20	chr8:11653120..11657894-chr8:11659261..11661744,5	K562	blood:
21	chr8:11645433..11648215-chr8:11658187..11661640,5	MCF-7	breast:
22	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
23	chr8:11650546..11652103-chr8:11660021..11661839,2	MCF-7	breast:
24	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
25	chr8:11637260..11639168-chr8:11645099..11647488,2	MCF-7	breast:
26	chr8:11587887..11588889-chr8:11603840..11604789,8	MCF-7	breast:
27	chr8:11644178..11646906-chr8:11648968..11651779,2	K562	blood:
28	chr8:11420542..11422083-chr8:11608840..11610442,2	MCF-7	breast:
29	chr8:11648977..11652066-chr8:11653536..11656484,3	MCF-7	breast:
30	chr8:11626972..11629777-chr8:11636747..11639183,2	MCF-7	breast:
31	chr8:11657053..11659855-chr8:11661482..11664070,3	K562	blood:
32	chr8:11640245..11642389-chr8:11658512..11660745,2	K562	blood:
33	chr8:11591065..11593958-chr8:11596215..11599028,3	K562	blood:
34	chr8:11422237..11424811-chr8:11602615..11604781,2	MCF-7	breast:
35	chr8:11613933..11616620-chr8:11622009..11623693,2	K562	blood:
36	chr8:11629053..11631703-chr8:11645453..11647397,2	K562	blood:
37	chr8:11648977..11652066-chr8:11653536..11656484,3	MCF-7	breast:
38	chr6:24666810..24667602-chr8:11659901..11660485,2	HCT-116	colon:
39	chr8:11622652..11623752-chr8:11800899..11801806,5	MCF-7	breast:
40	chr8:11421842..11422772-chr8:11603355..11604431,7	MCF-7	breast:
41	chr8:11643528..11645314-chr8:11650082..11652912,2	MCF-7	breast:
42	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
43	chr8:11662199..11664746-chr8:11796348..11798802,2	K562	blood:
44	chr8:11635229..11636009-chr8:11646882..11647706,2	MCF-7	breast:
45	chr8:11626986..11628635-chr8:11724070..11726191,2	K562	blood:
46	chr8:11603020..11605526-chr8:11757590..11759777,2	K562	blood:
47	chr8:11614600..11617057-chr8:11621350..11623693,3	K562	blood:
48	chr11:2398309..2399006-chr8:11659548..11660515,2	HCT-116	colon:
49	chr8:11587892..11588820-chr8:11603814..11604865,11	MCF-7	breast:
50	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-297N6.4.1-1	chr8:11655437-11655656	NONHSAT125085
2	lnc-NEIL2-1	chr8:11647514-11647895	NONHSAT125083
3	lnc-C8orf49-1	chr8:11619626-11620425	NONHSAT147620
4	lnc-NEIL2-2	chr8:11660604-11660734	NONHSAT125087
5	lnc-C8orf49-1	chr8:11618765-11620732	NONHSAT125071
6	lnc-NEIL2-1	chr8:11647514-11647897	NONHSAT125082
7	lnc-RP11-297N6.4.1-1	chr8:11659431-11660021	NONHSAT125085
8	lnc-NEIL2-2	chr8:11660814-11661009	NONHSAT125087

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	GATA4	hsa-miR-200b-3p	chr8:11617460-11617481
2	GATA4	hsa-miR-200b-3p	chr8:11617474-11617480

Variant related genes	Relation type
GATA4	TF binding region
FDFT1	TF binding region
ENSG00000255046	TF binding region
C8orf49	TF binding region
SUB1P1	TF binding region
NEIL2	TF binding region
GATA4	CpG island
FDFT1	CpG island
ENSG00000255046	CpG island
C8orf49	CpG island
SUB1P1	CpG island
NEIL2	CpG island
ENSG00000136574	chromatin interactions
ENSG00000255046	chromatin interactions
ENSG00000198964	chromatin interactions
ENSG00000164733	chromatin interactions
ENSG00000111802	chromatin interactions
ENSG00000066379	chromatin interactions
ENSG00000079459	chromatin interactions
ENSG00000204623	chromatin interactions
ENSG00000226200	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000255394	chromatin interactions
ENSG00000154328	chromatin interactions
ENSG00000112304	chromatin interactions
ENSG00000110651	chromatin interactions
ENSG00000227203	chromatin interactions

Extended variants
information (count: 5203 )
Associated
traits (count: 154 )

Variant overlapped rSNPs/rCNVs (count:5203 , 50 per page) page: 1 2 3 4 5 6 7 ... 105

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77289490	chr8:11590370-11590371	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547106438	chr8:11590373-11590374	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs565511592	chr8:11590375-11590376	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371430223	chr8:11590404-11590405	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536273570	chr8:11590407-11590408	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116552479	chr8:11590412-11590413	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569973629	chr8:11590450-11590451	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537238375	chr8:11590468-11590469	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374698841	chr8:11590481-11590482	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558736771	chr8:11590485-11590486	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139297671	chr8:11590549-11590550	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150039623	chr8:11590599-11590600	Strong transcription Genic enhancers Bivalent Enhancer Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372354312	chr8:11590656-11590657	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572822319	chr8:11590658-11590659	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs553451664	chr8:11590667-11590668	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376380552	chr8:11590711-11590712	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs369686683	chr8:11590828-11590829	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367669815	chr8:11590832-11590833	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs574717948	chr8:11590870-11590871	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191542459	chr8:11590880-11590881	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563827918	chr8:11590881-11590882	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs182934673	chr8:11590882-11590883	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546100443	chr8:11590929-11590930	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564307331	chr8:11590947-11590948	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528684550	chr8:11590952-11590953	Strong transcription Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541972331	chr8:11591043-11591044	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547155511	chr8:11591050-11591051	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555306895	chr8:11591099-11591100	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565802637	chr8:11591113-11591114	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145317853	chr8:11591120-11591121	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548214663	chr8:11591132-11591133	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574854354	chr8:11591133-11591134	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6983129	chr8:11591136-11591137	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs537299217	chr8:11591174-11591175	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74449430	chr8:11591196-11591197	Strong transcription Enhancers Bivalent Enhancer Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570630081	chr8:11591205-11591206	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs534839155	chr8:11591240-11591241	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28530664	chr8:11591279-11591280	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs574925710	chr8:11591330-11591331	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541963047	chr8:11591341-11591342	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62489347	chr8:11591377-11591378	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs201030663	chr8:11591382-11591383	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575253880	chr8:11591426-11591427	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs536472529	chr8:11591427-11591428	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs546061635	chr8:11591438-11591439	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs564468348	chr8:11591462-11591463	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs573086799	chr8:11591496-11591497	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs149219217	chr8:11591506-11591507	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs559179710	chr8:11591507-11591508	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs529746398	chr8:11591538-11591539	Strong transcription Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:154)

Disease	PMID	Source
Crohn''s disease	19220326	CNVD
Psoriasis	19220326	CNVD
Prostate cancer	21965145	CNVD
Prostate cancer	18515986	CNVD
Chronic obstructive pulmonary disease	20378733	CNVD
Autism	18414403	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17603634	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Ovarian cancer	20844748	CNVD
Cervical cancer	17311676	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Schizophrenia	20877625	CNVD
Disorders of sex development	21048976	CNVD
Colorectal cancer	16272173	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	17001317	CNVD
Thyroid cancer	19087340	CNVD
Multiple myeloma	16616336	CNVD
Hepatocellular carcinoma	22174799	CNVD
Heart disease	21282601	CNVD
Prostate cancer	16573809	CNVD
T-cell lymphomas	19863542	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	21297112	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Breast cancer	17393978	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Breast cancer	20837533	CNVD
Squamous cell cancer	21044232	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	22429812	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21264507	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	21088497	CNVD
Breast cancer	20940404	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Gastric cancer	17167181	CNVD
Prostate cancer	16705090	CNVD
8p-syndrome	17576883	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Prostate cancer	17245344	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Breast cancer	21785460	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21509527	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21064195	CNVD
Autism	22495311	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16608533	CNVD
Seminomas	18059402	CNVD
Lung cancer	18438408	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Medulloblastoma	16783165	CNVD
Gastric cancer	18160780	CNVD
Breast cancer	21990379	CNVD
Psoriasis	20403174	CNVD
Psoriasis	20663923	CNVD
Crohn''s disease	16909382	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Crohn''s disease	20877625	CNVD
Inflammatory disorder	20877625	CNVD
Cardiac defect	21933911	CNVD
Psoriasis	18059266	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Psoriasis	20877625	CNVD
Mental retardation	17847001	CNVD
Prostate cancer	17217626	CNVD
Schizophrenia	21399695	CNVD
Colorectal cancer	21128281	CNVD
Colorectal cancer	19455253	CNVD
Psoriasis	18848619	CNVD
Squamous cell cancer	19047905	CNVD
Colorectal cancer	17229543	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myxofibrosarcoma	16751306	CNVD
Immune disease	21572526	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Kallmann Syndrome 2	22470819	CNVD
Developmental disorder	20461109	CNVD
abnormal development	18461090	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Glioblastoma multiforme	21138945	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cancer	20164919	CNVD
Gastric cancer	22315472	CNVD
Gastric cancer	17229543	CNVD
Disorders of sex development	22290220	CNVD
Ependymoma	20639864	CNVD
Osteosarcoma	21215367	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Honadal dysgenesis	21408189	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:4167 , 50 per page) page: 1 2 3 4 5 6 7 ... 84

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11583200-11590600	Enhancers	Ovary	ovary
2	chr8:11585000-11591000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:11585600-11592400	Enhancers	Liver	Liver
4	chr8:11587200-11592400	Enhancers	Left Ventricle	heart
5	chr8:11587400-11591600	Enhancers	Right Atrium	heart
6	chr8:11588000-11591400	Enhancers	Fetal Heart	heart
7	chr8:11588400-11593200	Weak transcription	HepG2	liver
8	chr8:11589200-11590400	Enhancers	Pancreas	Pancrea
9	chr8:11589600-11591200	Weak transcription	Right Ventricle	heart
10	chr8:11589800-11590400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
11	chr8:11589800-11592400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr8:11590000-11590600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr8:11590000-11590600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
14	chr8:11590000-11592000	Weak transcription	Fetal Intestine Small	intestine
15	chr8:11590200-11590400	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr8:11590200-11590400	Enhancers	Gastric	stomach
17	chr8:11590200-11591600	Enhancers	Stomach Mucosa	stomach
18	chr8:11590200-11591800	Enhancers	Brain Germinal Matrix	brain
19	chr8:11590400-11590600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
20	chr8:11590400-11590600	Enhancers	Placenta	Placenta
21	chr8:11590400-11591200	Bivalent Enhancer	Fetal Lung	lung
22	chr8:11590400-11591600	Enhancers	Colon Smooth Muscle	Colon
23	chr8:11590400-11591600	Enhancers	Stomach Smooth Muscle	stomach
24	chr8:11590400-11593800	Weak transcription	Pancreas	Pancrea
25	chr8:11590400-11594000	Weak transcription	Gastric	stomach
26	chr8:11590600-11591000	Weak transcription	Ovary	ovary
27	chr8:11590600-11591200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr8:11590600-11591200	Weak transcription	Placenta	Placenta
29	chr8:11590600-11591400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:11591000-11591400	Bivalent Enhancer	HSMMtube	muscle
31	chr8:11591000-11591600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
32	chr8:11591000-11591600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr8:11591000-11591600	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr8:11591000-11592000	Enhancers	Ovary	ovary
35	chr8:11591200-11591400	Enhancers	Placenta	Placenta
36	chr8:11591200-11592200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr8:11591200-11592400	Enhancers	Right Ventricle	heart
38	chr8:11591200-11594200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:11591400-11591800	Flanking Active TSS	Fetal Heart	heart
40	chr8:11591400-11593400	Weak transcription	Placenta	Placenta
41	chr8:11591600-11593400	Weak transcription	Right Atrium	heart
42	chr8:11591600-11593600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr8:11591600-11593600	Weak transcription	Stomach Mucosa	stomach
44	chr8:11591600-11594000	Weak transcription	Colon Smooth Muscle	Colon
45	chr8:11591600-11594000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:11591800-11597400	Enhancers	Fetal Heart	heart
47	chr8:11592000-11593400	Strong transcription	Fetal Intestine Small	intestine
48	chr8:11592000-11593600	Weak transcription	Ovary	ovary
49	chr8:11592400-11592800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:11592400-11593600	Weak transcription	Liver	Liver

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