Variant report

Variant	esv3339284
Chromosome Location	chr8:10586967-10589515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr8:10587242-10587524	Hela-S3	cervix:	n/a	n/a
2	CHD2	chr8:10587314-10588516	Hela-S3	cervix:	n/a	chr8:10587421-10587431
3	CTBP2	chr8:10588662-10591163	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr8:10587280-10587430	GM12870	blood:	n/a	n/a
5	CTCF	chr8:10587440-10587590	NHEK	skin:	n/a	n/a
6	CTCF	chr8:10587300-10587450	SK-N-SH_RA	brain:	n/a	chr8:10587425-10587438 chr8:10587426-10587436
7	CTCF	chr8:10587680-10587830	Hela-S3	cervix:	n/a	n/a
8	CTCF	chr8:10587880-10588030	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr8:10587880-10588030	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr8:10587380-10587530	HUVEC	blood vessel:	n/a	chr8:10587425-10587438 chr8:10587426-10587436
11	CTCF	chr8:10587340-10587490	HUVEC	blood vessel:	n/a	chr8:10587425-10587438 chr8:10587426-10587436
12	E2F4	chr8:10587122-10587586	MCF10A-Er-Src	breast:	n/a	chr8:10587300-10587307 chr8:10587300-10587307 chr8:10587420-10587432 chr8:10587423-10587432 chr8:10587300-10587307
13	E2F4	chr8:10587909-10588193	MCF10A-Er-Src	breast:	n/a	chr8:10588092-10588101 chr8:10588145-10588155
14	E2F6	chr8:10588554-10589130	H1-hESC	embryonic stem cell:	n/a	chr8:10588647-10588656 chr8:10588851-10588863
15	E2F6	chr8:10587209-10588191	A549	lung:	n/a	chr8:10588092-10588101 chr8:10587300-10587307 chr8:10587300-10587307 chr8:10587420-10587432 chr8:10588145-10588155 chr8:10587423-10587432 chr8:10587300-10587307
16	E2F6	chr8:10587121-10589241	H1-hESC	embryonic stem cell:	n/a	chr8:10588092-10588101 chr8:10588647-10588656 chr8:10588851-10588863 chr8:10587300-10587307 chr8:10587300-10587307 chr8:10587420-10587432 chr8:10588145-10588155 chr8:10587423-10587432 chr8:10587300-10587307
17	E2F6	chr8:10587805-10588551	H1-hESC	embryonic stem cell:	n/a	chr8:10588092-10588101 chr8:10588145-10588155
18	GABPA	chr8:10587661-10588102	H1-hESC	embryonic stem cell:	n/a	n/a
19	GTF2F1	chr8:10587075-10587441	H1-hESC	embryonic stem cell:	n/a	n/a
20	HA-E2F1	chr8:10587299-10588279	Hela-S3	cervix:	n/a	chr8:10588092-10588101 chr8:10587300-10587307 chr8:10587300-10587307 chr8:10587420-10587432 chr8:10588145-10588155 chr8:10587423-10587432 chr8:10587300-10587307
21	MAFK	chr8:10587092-10587915	Hela-S3	cervix:	n/a	n/a
22	MAFK	chr8:10587693-10587846	HepG2	liver:	n/a	n/a
23	MAX	chr8:10587255-10588586	H1-hESC	embryonic stem cell:	n/a	chr8:10587567-10587576 chr8:10588101-10588111
24	MAX	chr8:10587163-10588262	A549	lung:	n/a	chr8:10587567-10587576 chr8:10588101-10588111
25	MAX	chr8:10588731-10589191	H1-hESC	embryonic stem cell:	n/a	chr8:10588954-10588964 chr8:10588956-10588963 chr8:10588953-10588962
26	MAX	chr8:10587165-10588196	Hela-S3	cervix:	n/a	chr8:10587567-10587576 chr8:10588101-10588111
27	MAX	chr8:10588588-10589132	H1-hESC	embryonic stem cell:	n/a	chr8:10588954-10588964 chr8:10588956-10588963 chr8:10588953-10588962
28	MAX	chr8:10587698-10588197	A549	lung:	n/a	chr8:10588101-10588111
29	MAX	chr8:10588230-10588596	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr8:10587294-10587663	A549	lung:	n/a	chr8:10587567-10587576
31	MAX	chr8:10588950-10588994	HepG2	liver:	n/a	chr8:10588954-10588964 chr8:10588956-10588963 chr8:10588953-10588962
32	MAZ	chr8:10587217-10588356	Hela-S3	cervix:	n/a	chr8:10587567-10587576 chr8:10588101-10588111
33	MXI1	chr8:10587185-10587579	Hela-S3	cervix:	n/a	n/a
34	MXI1	chr8:10586920-10588631	SK-N-SH	brain:	n/a	n/a
35	MXI1	chr8:10587934-10588032	Hela-S3	cervix:	n/a	n/a
36	MYC	chr8:10587442-10587542	HUVEC	blood vessel:	n/a	n/a
37	MYC	chr8:10588213-10588226	HUVEC	blood vessel:	n/a	n/a
38	MYC	chr8:10587866-10588037	HUVEC	blood vessel:	n/a	n/a
39	MYC	chr8:10587232-10588178	MCF10A-Er-Src	breast:	n/a	chr8:10587567-10587576 chr8:10588101-10588111
40	POLR2A	chr8:10587352-10588420	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr8:10587624-10588235	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr8:10586467-10588463	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr8:10587281-10588296	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr8:10587247-10588223	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr8:10586818-10587943	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr8:10586888-10588521	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr8:10587229-10588236	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr8:10586858-10588246	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr8:10586823-10588584	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr8:10589339-10589874	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:10588486-10588536	NHDF-neo	bronchial:	n/a
2	chr8:10589093-10589143	NHBE	bronchial:	n/a
3	chr8:10588486-10588536	NHDF-neo	bronchial:	n/a
4	chr8:10589093-10589143	NHBE	bronchial:	n/a
5	chr8:10586959-10587009	CMK	blood:	n/a
6	chr8:10587055-10587105	Caco-2	colon:	n/a
7	chr8:10587604-10587654	HRPEpiC	eye:	n/a
8	chr8:10588386-10588436	Caco-2	colon:	n/a
9	chr8:10586967-10587017	AG09319	gingival:	n/a
10	chr8:10587055-10587105	Jurkat	blood:	n/a
11	chr8:10588486-10588536	NT2-D1	testis:	n/a
12	chr8:10589359-10589409	HRE	kidney:	n/a
13	chr8:10587055-10587105	H1-hESC	embryonic stem cell:	embryo
14	chr8:10587055-10587105	HIPEpiC	eye:	n/a
15	chr8:10587769-10587819	GM19239	blood:	n/a
16	chr8:10587604-10587654	HL-60	blood:	n/a
17	chr8:10589359-10589409	Jurkat	blood:	n/a
18	chr8:10588486-10588536	HNPCEpiC	eye:	n/a
19	chr8:10587055-10587105	AG09319	gingival:	n/a
20	chr8:10587305-10587355	Caco-2	colon:	n/a
21	chr8:10588486-10588536	MCF10A-Er-Src	breast:	n/a
22	chr8:10588386-10588436	HCPEpiC	choroid plexus:	n/a
23	chr8:10587604-10587654	HCT-116	colon:	n/a
24	chr8:10589359-10589409	SKMC	muscle:	n/a
25	chr8:10588040-10588090	AG10803	skin:	n/a
26	chr8:10589359-10589409	HUVEC	blood vessel:	n/a
27	chr8:10586967-10587017	HCPEpiC	choroid plexus:	n/a
28	chr8:10587604-10587654	SAEC	small airway:	n/a
29	chr8:10586959-10587009	HPAEpiC	pulmonary alveolar:	n/a
30	chr8:10587305-10587355	PFSK-1	brain:	n/a
31	chr8:10586959-10587009	ECC-1	luminal epithelium:	n/a
32	chr8:10587305-10587355	PANC-1	pancreas:	n/a
33	chr8:10588486-10588536	GM12878	blood:	n/a
34	chr8:10589093-10589143	HMEC	breast:	n/a
35	chr8:10586967-10587017	ProgFib	skin:	n/a
36	chr8:10587769-10587819	RPTEC	kidney:	n/a
37	chr8:10588486-10588536	NH-A	brain:	n/a
38	chr8:10588013-10588063	AoSMC	blood vessel:	n/a
39	chr8:10588040-10588090	HMEC	breast:	n/a
40	chr8:10588386-10588436	HepG2	liver:	n/a
41	chr8:10588013-10588063	HCF	heart:	n/a
42	chr8:10588486-10588536	HRE	kidney:	n/a
43	chr8:10589359-10589409	U87	brain:	n/a
44	chr8:10587055-10587105	PANC-1	pancreas:	n/a
45	chr8:10589093-10589143	Hela-S3	cervix:	n/a
46	chr8:10588040-10588090	HPAEpiC	pulmonary alveolar:	n/a
47	chr8:10586967-10587017	GM19239	blood:	n/a
48	chr8:10588013-10588063	ECC-1	luminal epithelium:	n/a
49	chr8:10588040-10588090	BJ	skin:	n/a
50	chr8:10589359-10589409	NH-A	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:76355751..76356585-chr8:10587149..10587668,2	MCF-7	breast:
2	chr17:76355736..76356660-chr8:10587148..10587669,5	HCT-116	colon:
3	chr8:10587371..10588109-chrX:24072903..24073555,2	Hela-S3	cervix:
4	chr19:49122189..49122746-chr8:10587564..10588179,2	Hela-S3	cervix:
5	chr17:76355700..76356289-chr8:10587147..10587668,2	Hela-S3	cervix:
6	chr3:150320845..150321467-chr8:10587564..10588347,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf74-1	chr8:10586824-10587140	ENSG00000248896
2	lnc-C8orf74-1	chr8:10587088-10587140	ENSG00000248896
3	lnc-C8orf74-1	chr8:10586824-10587140	NONHSAT125014

Variant related genes	Relation type
SOX7	TF binding region
ENSG00000248896	TF binding region
SOX7	CpG island
ENSG00000248896	CpG island
ENSG00000266970	chromatin interactions
ENSG00000063176	chromatin interactions
ENSG00000198843	chromatin interactions
ENSG00000130741	chromatin interactions
ENSG00000120742	chromatin interactions
ENSG00000184557	chromatin interactions
ENSG00000063177	chromatin interactions
NAMPT	miRNA target sites

Extended variants
information (count: 110 )
Associated
traits (count: 137 )

Variant overlapped rSNPs/rCNVs (count:110 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369827673	chr8:10586994-10586995	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs6995692	chr8:10587008-10587009	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs546122259	chr8:10587009-10587010	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs145634005	chr8:10587036-10587037	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs563059980	chr8:10587080-10587081	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs192028883	chr8:10587085-10587086	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs548249252	chr8:10587098-10587099	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs184838565	chr8:10587123-10587124	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs189665287	chr8:10587138-10587139	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs57801055	chr8:10587161-10587162	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs570694802	chr8:10587192-10587193	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs115477106	chr8:10587193-10587194	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs77559077	chr8:10587207-10587208	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs180894717	chr8:10587258-10587259	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs6996056	chr8:10587265-10587266	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs576440263	chr8:10587274-10587275	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs555538590	chr8:10587364-10587365	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs565760912	chr8:10587391-10587392	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs534654469	chr8:10587416-10587417	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs557779365	chr8:10587500-10587501	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs577477694	chr8:10587504-10587505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs546430727	chr8:10587524-10587525	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs556502492	chr8:10587528-10587529	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs372332206	chr8:10587599-10587600	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs541998011	chr8:10587618-10587619	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs561893365	chr8:10587634-10587635	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs113170791	chr8:10587638-10587639	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
28	rs534625650	chr8:10587651-10587652	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs527769142	chr8:10587654-10587655	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs541034707	chr8:10587671-10587672	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs373581511	chr8:10587676-10587677	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs377053507	chr8:10587691-10587692	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs550013139	chr8:10587736-10587737	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs201119602	chr8:10587741-10587742	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs529132388	chr8:10587750-10587751	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs376106254	chr8:10587755-10587756	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs549199093	chr8:10587764-10587765	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs369872856	chr8:10587770-10587771	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs565823930	chr8:10587782-10587783	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs148916739	chr8:10587800-10587801	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs547345150	chr8:10587811-10587812	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs545288397	chr8:10587821-10587822	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs557472510	chr8:10587832-10587833	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs199995288	chr8:10587881-10587882	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs571195317	chr8:10587902-10587903	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs539760565	chr8:10587945-10587946	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs186242121	chr8:10587954-10587955	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs28438834	chr8:10587963-10587964	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs542057637	chr8:10587975-10587976	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs370694180	chr8:10587987-10587988	Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:137)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Gastric cancer	21811585	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10576800-10587200	Weak transcription	Gastric	stomach
2	chr8:10580200-10587200	Weak transcription	Pancreas	Pancrea
3	chr8:10584400-10588000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
4	chr8:10585000-10587000	Active TSS	Lung	lung
5	chr8:10585200-10588400	Bivalent/Poised TSS	Left Ventricle	heart
6	chr8:10585400-10587000	Bivalent/Poised TSS	Placenta	Placenta
7	chr8:10585400-10587000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
8	chr8:10585400-10587200	Active TSS	Right Ventricle	heart
9	chr8:10585800-10587000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
10	chr8:10585800-10587000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
11	chr8:10585800-10587000	Active TSS	Psoas Muscle	Psoas
12	chr8:10585800-10587000	Flanking Active TSS	HMEC	breast
13	chr8:10586000-10587000	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr8:10586000-10587000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr8:10586000-10587200	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr8:10586000-10588600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
17	chr8:10586000-10588800	Active TSS	Right Atrium	heart
18	chr8:10586200-10587000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr8:10586200-10587000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:10586200-10587200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr8:10586200-10587200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
22	chr8:10586200-10588800	Active TSS	Hela-S3	cervix
23	chr8:10586400-10587000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr8:10586400-10587200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:10586400-10588000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr8:10586400-10588000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
27	chr8:10586400-10588400	Active TSS	HUVEC	blood vessel
28	chr8:10586400-10588400	Active TSS	NHEK	skin
29	chr8:10586600-10587000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr8:10586600-10587000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr8:10586600-10587000	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr8:10586600-10587000	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
33	chr8:10586600-10587000	Bivalent Enhancer	Fetal Brain Male	brain
34	chr8:10586600-10587200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
35	chr8:10586600-10587200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
36	chr8:10586600-10587400	Flanking Active TSS	Liver	Liver
37	chr8:10586600-10587600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr8:10586600-10588400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr8:10586600-10592600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr8:10586800-10587000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
41	chr8:10586800-10587000	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:10586800-10587000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr8:10586800-10587000	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
44	chr8:10586800-10587000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
45	chr8:10586800-10587000	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
46	chr8:10586800-10587000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
47	chr8:10586800-10587000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr8:10586800-10587000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
49	chr8:10586800-10587000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
50	chr8:10586800-10587000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain

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