Variant report

Variant	esv2762725
Chromosome Location	chr8:11322997-11350721
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1495)
CpG islands
(count:856)
Chromatin interactive
region (count:21)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr8:11340857-11341999	GM12878	blood:	n/a	n/a
2	ATF2	chr8:11324764-11325260	GM12878	blood:	n/a	n/a
3	ATF2	chr8:11324016-11324675	GM12878	blood:	n/a	chr8:11324301-11324315
4	ATF2	chr8:11337106-11338327	GM12878	blood:	n/a	n/a
5	ATF2	chr8:11324173-11324549	H1-hESC	embryonic stem cell:	n/a	chr8:11324301-11324315
6	ATF2	chr8:11323929-11324646	GM12878	blood:	n/a	chr8:11324301-11324315
7	ATF2	chr8:11337099-11338321	GM12878	blood:	n/a	n/a
8	ATF2	chr8:11348914-11352994	GM12878	blood:	n/a	n/a
9	ATF2	chr8:11340465-11342206	GM12878	blood:	n/a	n/a
10	ATF2	chr8:11348964-11352134	GM12878	blood:	n/a	n/a
11	ATF3	chr8:11324145-11324449	K562	blood:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
12	ATF3	chr8:11324094-11324537	A549	lung:	n/a	chr8:11324303-11324316 chr8:11324303-11324314
13	BACH1	chr8:11325083-11325410	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr8:11324297-11324869	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr8:11341229-11341780	GM12878	blood:	n/a	n/a
16	BATF	chr8:11349196-11350520	GM12878	blood:	n/a	chr8:11349740-11349749
17	BATF	chr8:11337243-11337886	GM12878	blood:	n/a	n/a
18	BATF	chr8:11340981-11342069	GM12878	blood:	n/a	n/a
19	BATF	chr8:11337139-11338361	GM12878	blood:	n/a	chr8:11338197-11338207
20	BATF	chr8:11349238-11349987	GM12878	blood:	n/a	chr8:11349740-11349749
21	BCL11A	chr8:11337110-11337684	GM12878	blood:	n/a	chr8:11337226-11337235
22	BCL11A	chr8:11349298-11350028	GM12878	blood:	n/a	chr8:11349705-11349714
23	BCL11A	chr8:11341072-11341789	GM12878	blood:	n/a	n/a
24	BCL11A	chr8:11324115-11324617	GM12878	blood:	n/a	chr8:11324201-11324214
25	BCL11A	chr8:11341241-11341736	GM12878	blood:	n/a	n/a
26	BCL11A	chr8:11324299-11324584	GM12878	blood:	n/a	n/a
27	BCL11A	chr8:11337130-11337575	GM12878	blood:	n/a	chr8:11337226-11337235
28	BCL11A	chr8:11349266-11350031	GM12878	blood:	n/a	chr8:11349705-11349714
29	BCL3	chr8:11331583-11332118	A549	lung:	n/a	n/a
30	BCL3	chr8:11341090-11341819	GM12878	blood:	n/a	n/a
31	BCL3	chr8:11341211-11341734	GM12878	blood:	n/a	n/a
32	BCL3	chr8:11324188-11324646	A549	lung:	n/a	chr8:11324201-11324214
33	BCL3	chr8:11323781-11324619	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
34	BCL3	chr8:11349413-11349945	GM12878	blood:	n/a	chr8:11349705-11349714
35	BCL3	chr8:11349260-11350398	GM12878	blood:	n/a	chr8:11349705-11349714
36	BCLAF1	chr8:11340581-11342179	GM12878	blood:	n/a	n/a
37	BCLAF1	chr8:11349213-11352688	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714
38	BCLAF1	chr8:11348871-11353485	GM12878	blood:	n/a	chr8:11350566-11350575 chr8:11349705-11349714 chr8:11349172-11349179
39	BCLAF1	chr8:11340515-11341869	GM12878	blood:	n/a	n/a
40	BCLAF1	chr8:11324924-11325508	GM12878	blood:	n/a	n/a
41	BCLAF1	chr8:11323892-11324893	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
42	BCLAF1	chr8:11324052-11324629	GM12878	blood:	n/a	chr8:11324201-11324214 chr8:11324071-11324084 chr8:11324068-11324081 chr8:11324074-11324087 chr8:11324104-11324113 chr8:11324077-11324086
43	BCLAF1	chr8:11337489-11338283	GM12878	blood:	n/a	n/a
44	BCLAF1	chr8:11337166-11338269	GM12878	blood:	n/a	chr8:11337226-11337235
45	BHLHE40	chr8:11341223-11342097	GM12878	blood:	n/a	n/a
46	BHLHE40	chr8:11349162-11351476	GM12878	blood:	n/a	n/a
47	BHLHE40	chr8:11331567-11331740	A549	lung:	n/a	n/a
48	BHLHE40	chr8:11323979-11325425	GM12878	blood:	n/a	n/a
49	BHLHE40	chr8:11337314-11338301	GM12878	blood:	n/a	n/a
50	BHLHE40	chr8:11347818-11348195	GM12878	blood:	n/a	n/a

(count:856 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:11350297-11350347	HEK293	kidney:	embryo
2	chr8:11324327-11324377	HRCEpiC	kidney:	n/a
3	chr8:11350297-11350347	HEK293	kidney:	embryo
4	chr8:11324327-11324377	HRCEpiC	kidney:	n/a
5	chr8:11324327-11324377	HRE	kidney:	n/a
6	chr8:11324817-11324867	PrEC	prostate:	n/a
7	chr8:11324817-11324867	AG09309	skin:	n/a
8	chr8:11324327-11324377	HCT-116	colon:	n/a
9	chr8:11331707-11331757	T-47D	breast:	n/a
10	chr8:11324048-11324098	HUVEC	blood vessel:	n/a
11	chr8:11324666-11324716	HEEpiC	esophagus:	n/a
12	chr8:11338675-11338725	HRPEpiC	eye:	n/a
13	chr8:11324448-11324498	NHDF-neo	bronchial:	n/a
14	chr8:11324327-11324377	HIPEpiC	eye:	n/a
15	chr8:11324666-11324716	HPAEpiC	pulmonary alveolar:	n/a
16	chr8:11324448-11324498	BE2_C	brain:	n/a
17	chr8:11323474-11323524	H1-hESC	embryonic stem cell:	embryo
18	chr8:11323474-11323524	Hepatocyte	liver:	n/a
19	chr8:11338675-11338725	SK-N-SH_RA	brain:	n/a
20	chr8:11324448-11324498	NB4	blood:	n/a
21	chr8:11324687-11324737	Hepatocyte	liver:	n/a
22	chr8:11324448-11324498	HPAEpiC	pulmonary alveolar:	n/a
23	chr8:11324666-11324716	IMR90	lung:	fetal
24	chr8:11324244-11324294	SK-N-SH	brain:	n/a
25	chr8:11324666-11324716	HCF	heart:	n/a
26	chr8:11324448-11324498	AG04450	lung:	fetal
27	chr8:11324048-11324098	HL-60	blood:	n/a
28	chr8:11324327-11324377	GM12892	blood:	n/a
29	chr8:11324817-11324867	SAEC	small airway:	n/a
30	chr8:11338675-11338725	GM12892	blood:	n/a
31	chr8:11323474-11323524	Caco-2	colon:	n/a
32	chr8:11331707-11331757	H1-hESC	embryonic stem cell:	embryo
33	chr8:11350297-11350347	Hela-S3	cervix:	n/a
34	chr8:11350297-11350347	A549	lung:	n/a
35	chr8:11327014-11327064	AG04449	skin:	fetal
36	chr8:11324687-11324737	HUVEC	blood vessel:	n/a
37	chr8:11324806-11324856	NH-A	brain:	n/a
38	chr8:11338675-11338725	SAEC	small airway:	n/a
39	chr8:11324327-11324377	HNPCEpiC	eye:	n/a
40	chr8:11324817-11324867	MCF-7	breast:	n/a
41	chr8:11324448-11324498	HCT-116	colon:	n/a
42	chr8:11338675-11338725	H1-hESC	embryonic stem cell:	embryo
43	chr8:11331707-11331757	AoSMC	blood vessel:	n/a
44	chr8:11350297-11350347	HUVEC	blood vessel:	n/a
45	chr8:11327014-11327064	RPTEC	kidney:	n/a
46	chr8:11323474-11323524	HUVEC	blood vessel:	n/a
47	chr8:11324446-11324496	HCPEpiC	choroid plexus:	n/a
48	chr8:11324448-11324498	ECC-1	luminal epithelium:	n/a
49	chr8:11327014-11327064	NHBE	bronchial:	n/a
50	chr8:11324244-11324294	T-47D	breast:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11268366..11270477-chr8:11325534..11327747,2	MCF-7	breast:
2	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:
3	chr8:11322432..11325165-chr8:11325928..11329477,5	MCF-7	breast:
4	chr8:11319355..11321594-chr8:11322106..11323740,2	K562	blood:
5	chr8:11331911..11334130-chr8:11408479..11410507,2	MCF-7	breast:
6	chr8:11324797..11325381-chr8:11337437..11337957,2	MCF-7	breast:
7	chr8:11301164..11304076-chr8:11323710..11325324,2	K562	blood:
8	chr1:113795691..113796561-chr8:11341770..11342616,2	MCF-7	breast:
9	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
10	chr8:11323210..11326776-chr8:11330455..11332610,5	MCF-7	breast:
11	chr8:11324323..11327573-chr8:11332545..11335174,3	K562	blood:
12	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
13	chr8:11322451..11325795-chr8:11329496..11335044,6	MCF-7	breast:
14	chr8:11303566..11306251-chr8:11321499..11323964,2	MCF-7	breast:
15	chr8:11337552..11338252-chr8:11411303..11411805,2	K562	blood:
16	chr8:11194174..11194960-chr8:11325192..11325823,2	K562	blood:
17	chr7:118857357..118859002-chr8:11343082..11345568,2	MCF-7	breast:
18	chr8:11337410..11338246-chr8:11410998..11411873,3	MCF-7	breast:
19	chr8:11328896..11331385-chr8:11333353..11335506,3	K562	blood:
20	chr8:11337403..11338287-chr8:11411164..11412225,4	MCF-7	breast:
21	chr8:11312570..11318244-chr8:11320573..11323970,6	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf12-1	chr8:11333355-11333576	ucscGeneNc_uc003wtu_2
2	lnc-C8orf12-1	chr8:11332959-11333129	ucscGeneNc_uc003wtu_2
3	lnc-C8orf12-1	chr8:11329749-11330021	ucscGeneNc_uc003wtu_2
4	lnc-RP11-148O21.3.1-3	chr8:11324135-11324244	NONHSAT125061
5	lnc-C8orf12-1	chr8:11328839-11329054	ucscGeneNc_uc003wtu_2

No data

Variant related genes	Relation type
FAM167A	TF binding region
BLK	TF binding region
FAM167A	CpG island
BLK	CpG island
ENSG00000154319	chromatin interactions
ENSG00000254774	chromatin interactions
ENSG00000269954	chromatin interactions

Extended variants
information (count: 1518 )
Associated
traits (count: 142 )

Variant overlapped rSNPs/rCNVs (count:1518 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552588952	chr8:11322999-11323000	Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs9644687	chr8:11323025-11323026	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs538645235	chr8:11323119-11323120	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs547380616	chr8:11323148-11323149	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs565801530	chr8:11323171-11323172	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs146339827	chr8:11323193-11323194	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs139289391	chr8:11323201-11323202	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs199713843	chr8:11323239-11323240	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs34926793	chr8:11323254-11323255	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs149675263	chr8:11323276-11323277	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs6601592	chr8:11323281-11323282	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs11250138	chr8:11323312-11323313	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs541050594	chr8:11323327-11323328	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552929189	chr8:11323349-11323350	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs28738823	chr8:11323362-11323363	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs563956799	chr8:11323381-11323382	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550046482	chr8:11323415-11323416	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs570017276	chr8:11323427-11323428	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs531012301	chr8:11323449-11323450	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs546334679	chr8:11323473-11323474	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs577098278	chr8:11323474-11323475	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs539063847	chr8:11323476-11323477	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs76425323	chr8:11323479-11323480	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565663348	chr8:11323525-11323526	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs35592057	chr8:11323532-11323533	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs547984077	chr8:11323533-11323534	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs35473346	chr8:11323539-11323540	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs181242748	chr8:11323549-11323550	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs536868529	chr8:11323596-11323597	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs566336348	chr8:11323600-11323601	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs558690238	chr8:11323604-11323605	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs570443543	chr8:11323672-11323673	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs185314888	chr8:11323683-11323684	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs373902286	chr8:11323696-11323697	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs188175337	chr8:11323753-11323754	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs374456277	chr8:11323781-11323782	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs574492477	chr8:11323783-11323784	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs17742716	chr8:11323789-11323790	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs144314031	chr8:11323829-11323830	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs187391221	chr8:11323862-11323863	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs546099778	chr8:11323870-11323871	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs2736318	chr8:11323878-11323879	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368022748	chr8:11323886-11323887	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs540918529	chr8:11323903-11323904	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs559437960	chr8:11323911-11323912	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs529666969	chr8:11323964-11323965	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs548135661	chr8:11323981-11323982	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs528842798	chr8:11323985-11323986	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs11987044	chr8:11323993-11323994	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs2618484	chr8:11323997-11323998	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:142)

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
Breast cancer	22522925	CNVD
Lung adenocarcinoma	21935476	CNVD
Renal cell carcinoma	21215367	CNVD
Osteosarcoma	21215367	CNVD
Gastric cancer	22315472	CNVD

Chromatin state (count:871 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11303600-11323200	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr8:11313400-11323000	Enhancers	Primary B cells from cord blood	blood
3	chr8:11314200-11323200	Weak transcription	Right Atrium	heart
4	chr8:11315400-11323000	Enhancers	Primary B cells from peripheral blood	blood
5	chr8:11316400-11323400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr8:11317000-11323000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr8:11319400-11323000	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr8:11319400-11323200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:11319400-11323600	Enhancers	Gastric	stomach
10	chr8:11320000-11323200	Enhancers	Lung	lung
11	chr8:11320000-11323400	Enhancers	Pancreas	Pancrea
12	chr8:11320000-11323800	Enhancers	Liver	Liver
13	chr8:11321000-11323200	Enhancers	Colonic Mucosa	Colon
14	chr8:11321000-11323400	Bivalent Enhancer	Fetal Stomach	stomach
15	chr8:11321200-11323200	Bivalent Enhancer	Placenta	Placenta
16	chr8:11321400-11323600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr8:11321600-11323000	Enhancers	Brain Angular Gyrus	brain
18	chr8:11321600-11323200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr8:11321600-11323600	Enhancers	Esophagus	oesophagus
20	chr8:11321600-11323600	Flanking Active TSS	NHEK	skin
21	chr8:11321600-11323800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:11321600-11324000	Enhancers	Left Ventricle	heart
23	chr8:11321600-11325200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr8:11321800-11323200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
25	chr8:11321800-11323400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:11321800-11323600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr8:11321800-11323600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr8:11321800-11323600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr8:11321800-11323600	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
30	chr8:11321800-11323800	Bivalent Enhancer	Fetal Muscle Leg	muscle
31	chr8:11322000-11323000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:11322000-11323200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:11322000-11323200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr8:11322000-11323200	Bivalent Enhancer	Fetal Intestine Small	intestine
35	chr8:11322000-11323400	Bivalent Enhancer	Fetal Intestine Large	intestine
36	chr8:11322000-11323800	Enhancers	Primary hematopoietic stem cells	blood
37	chr8:11322000-11324000	Enhancers	Fetal Heart	heart
38	chr8:11322000-11324400	Bivalent Enhancer	Fetal Brain Male	brain
39	chr8:11322000-11324600	Active TSS	Brain Cingulate Gyrus	brain
40	chr8:11322200-11323000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
41	chr8:11322200-11323000	Weak transcription	Spleen	Spleen
42	chr8:11322200-11323200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr8:11322200-11323200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr8:11322200-11323600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:11322200-11323800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr8:11322200-11323800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr8:11322400-11323200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:11322400-11323400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
49	chr8:11322400-11323600	Enhancers	Right Ventricle	heart
50	chr8:11322400-11325400	Active TSS	Brain Anterior Caudate	brain

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