Variant report

Variant	esv3341216
Chromosome Location	chr7:97839416-97841614
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	ARID3A	chr7:97841106-97841413	HepG2	liver:	n/a	n/a
2	ATF3	chr7:97841200-97841340	K562	blood:	n/a	n/a
3	BACH1	chr7:97839948-97840290	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:97840715-97840870	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr7:97841083-97841121	GM12878	blood:	n/a	n/a
6	BHLHE40	chr7:97840950-97841274	K562	blood:	n/a	n/a
7	BHLHE40	chr7:97840739-97841503	HepG2	liver:	n/a	n/a
8	BRCA1	chr7:97841048-97841415	HepG2	liver:	n/a	n/a
9	CCNT2	chr7:97840716-97841121	K562	blood:	n/a	n/a
10	CCNT2	chr7:97841471-97841671	K562	blood:	n/a	n/a
11	CEBPB	chr7:97841211-97841387	HepG2	liver:	n/a	n/a
12	CHD2	chr7:97840957-97841477	HepG2	liver:	n/a	n/a
13	CHD2	chr7:97839942-97840021	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr7:97841120-97841270	HepG2	liver:	n/a	n/a
15	CTCF	chr7:97841217-97841244	GM12891	blood:	n/a	n/a
16	CTCF	chr7:97841157-97841208	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr7:97840565-97840717	HepG2	liver:	n/a	chr7:97840589-97840599
18	E2F6	chr7:97840978-97841208	K562	blood:	n/a	n/a
19	EGR1	chr7:97840917-97841582	MCF-7	breast:	n/a	chr7:97841382-97841391 chr7:97841378-97841393 chr7:97841380-97841391 chr7:97841379-97841392 chr7:97841379-97841393 chr7:97841379-97841392
20	EGR1	chr7:97840946-97841568	K562	blood:	n/a	chr7:97841382-97841391 chr7:97841378-97841393 chr7:97841380-97841391 chr7:97841379-97841392 chr7:97841379-97841393 chr7:97841379-97841392
21	EGR1	chr7:97840998-97841531	K562	blood:	n/a	chr7:97841382-97841391 chr7:97841378-97841393 chr7:97841380-97841391 chr7:97841379-97841392 chr7:97841379-97841393 chr7:97841379-97841392
22	EP300	chr7:97840895-97841575	HepG2	liver:	n/a	chr7:97841309-97841318 chr7:97841308-97841317
23	EP300	chr7:97840966-97841484	HepG2	liver:	n/a	chr7:97841309-97841318 chr7:97841308-97841317
24	FOS	chr7:97841251-97841417	MCF10A-Er-Src	breast:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
25	FOSL1	chr7:97841064-97841466	K562	blood:	n/a	chr7:97841307-97841318 chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
26	FOSL1	chr7:97841101-97841449	K562	blood:	n/a	chr7:97841307-97841318 chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
27	FOSL2	chr7:97840959-97841573	HepG2	liver:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
28	FOSL2	chr7:97841053-97841512	MCF-7	breast:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
29	FOSL2	chr7:97840900-97841588	HepG2	liver:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
30	FOXA1	chr7:97841130-97841604	HepG2	liver:	n/a	n/a
31	FOXA2	chr7:97841130-97841497	HepG2	liver:	n/a	n/a
32	GTF2F1	chr7:97839983-97840065	H1-hESC	embryonic stem cell:	n/a	n/a
33	HDAC2	chr7:97839921-97840081	H1-hESC	embryonic stem cell:	n/a	n/a
34	HDAC2	chr7:97840996-97841522	K562	blood:	n/a	n/a
35	HDAC2	chr7:97839859-97840282	H1-hESC	embryonic stem cell:	n/a	n/a
36	HDAC2	chr7:97840624-97840915	H1-hESC	embryonic stem cell:	n/a	n/a
37	HDAC2	chr7:97840644-97841559	HepG2	liver:	n/a	n/a
38	HEY1	chr7:97840911-97841217	HepG2	liver:	n/a	chr7:97841163-97841172 chr7:97841095-97841104
39	HEY1	chr7:97840672-97840848	HepG2	liver:	n/a	n/a
40	HEY1	chr7:97840631-97840856	HepG2	liver:	n/a	n/a
41	HNF4A	chr7:97841019-97841474	HepG2	liver:	n/a	chr7:97841230-97841243 chr7:97841226-97841248 chr7:97841231-97841243 chr7:97841228-97841246 chr7:97841231-97841243 chr7:97841231-97841244 chr7:97841230-97841244 chr7:97841229-97841244 chr7:97841230-97841243 chr7:97841235-97841247 chr7:97841230-97841243
42	HNF4A	chr7:97840989-97841470	HepG2	liver:	n/a	chr7:97841230-97841243 chr7:97841226-97841248 chr7:97841231-97841243 chr7:97841228-97841246 chr7:97841231-97841243 chr7:97841000-97841014 chr7:97841231-97841244 chr7:97841230-97841244 chr7:97841229-97841244 chr7:97841230-97841243 chr7:97841001-97841014 chr7:97841235-97841247 chr7:97841230-97841243
43	HNF4G	chr7:97840952-97841520	HepG2	liver:	n/a	chr7:97841230-97841243 chr7:97841226-97841248 chr7:97841231-97841243 chr7:97841228-97841246 chr7:97841231-97841243 chr7:97841000-97841014 chr7:97841231-97841244 chr7:97841230-97841244 chr7:97841230-97841243 chr7:97841001-97841014 chr7:97841228-97841243 chr7:97841235-97841247 chr7:97841230-97841243
44	HNF4G	chr7:97840946-97841481	HepG2	liver:	n/a	chr7:97841230-97841243 chr7:97841226-97841248 chr7:97841231-97841243 chr7:97841228-97841246 chr7:97841231-97841243 chr7:97841000-97841014 chr7:97841231-97841244 chr7:97841230-97841244 chr7:97841230-97841243 chr7:97841001-97841014 chr7:97841228-97841243 chr7:97841235-97841247 chr7:97841230-97841243
45	JUN	chr7:97841133-97841471	HepG2	liver:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
46	JUND	chr7:97841109-97841477	K562	blood:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841307-97841318 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
47	JUND	chr7:97840958-97841592	MCF-7	breast:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841307-97841318 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
48	JUND	chr7:97841095-97841548	HepG2	liver:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841307-97841318 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
49	JUND	chr7:97841120-97841482	H1-hESC	embryonic stem cell:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841307-97841318 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317
50	JUND	chr7:97841060-97841478	HepG2	liver:	n/a	chr7:97841308-97841318 chr7:97841307-97841319 chr7:97841309-97841317 chr7:97841309-97841318 chr7:97841279-97841290 chr7:97841307-97841318 chr7:97841305-97841316 chr7:97841308-97841317 chr7:97841310-97841317

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:97839870-97839920	MCF-7	breast:	n/a
2	chr7:97839870-97839920	MCF-7	breast:	n/a
3	chr7:97841334-97841384	AG09319	gingival:	n/a
4	chr7:97841513-97841563	A549	lung:	n/a
5	chr7:97840113-97840163	IMR90	lung:	fetal
6	chr7:97840014-97840064	BE2_C	brain:	n/a
7	chr7:97841447-97841497	HCM	heart:	n/a
8	chr7:97840113-97840163	GM12878	blood:	n/a
9	chr7:97841447-97841497	GM12891	blood:	n/a
10	chr7:97840014-97840064	ProgFib	skin:	n/a
11	chr7:97841502-97841552	HUVEC	blood vessel:	n/a
12	chr7:97840014-97840064	SKMC	muscle:	n/a
13	chr7:97841440-97841490	CMK	blood:	n/a
14	chr7:97840014-97840064	HEK293	kidney:	embryo
15	chr7:97841440-97841490	HepG2	liver:	n/a
16	chr7:97841513-97841563	HEK293	kidney:	embryo
17	chr7:97841440-97841490	Caco-2	colon:	n/a
18	chr7:97841447-97841497	ProgFib	skin:	n/a
19	chr7:97841334-97841384	HRCEpiC	kidney:	n/a
20	chr7:97841001-97841051	PANC-1	pancreas:	n/a
21	chr7:97841447-97841497	HL-60	blood:	n/a
22	chr7:97840014-97840064	Hela-S3	cervix:	n/a
23	chr7:97839870-97839920	SK-N-MC	brain:	n/a
24	chr7:97841440-97841490	NH-A	brain:	n/a
25	chr7:97841513-97841563	SK-N-MC	brain:	n/a
26	chr7:97841502-97841552	AG04449	skin:	fetal
27	chr7:97841513-97841563	HRE	kidney:	n/a
28	chr7:97840113-97840163	GM12891	blood:	n/a
29	chr7:97841502-97841552	A549	lung:	n/a
30	chr7:97841001-97841051	PrEC	prostate:	n/a
31	chr7:97841001-97841051	LNCaP	prostate:	n/a
32	chr7:97840113-97840163	BE2_C	brain:	n/a
33	chr7:97841071-97841121	HCT-116	colon:	n/a
34	chr7:97841440-97841490	A549	lung:	n/a
35	chr7:97840014-97840064	GM12891	blood:	n/a
36	chr7:97840014-97840064	HCF	heart:	n/a
37	chr7:97840113-97840163	Hela-S3	cervix:	n/a
38	chr7:97841513-97841563	NHDF-neo	bronchial:	n/a
39	chr7:97841591-97841641	HRCEpiC	kidney:	n/a
40	chr7:97839870-97839920	GM12892	blood:	n/a
41	chr7:97841591-97841641	AG10803	skin:	n/a
42	chr7:97841513-97841563	GM19239	blood:	n/a
43	chr7:97841513-97841563	HIPEpiC	eye:	n/a
44	chr7:97841071-97841121	PFSK-1	brain:	n/a
45	chr7:97841513-97841563	HepG2	liver:	n/a
46	chr7:97841502-97841552	K562	blood:	n/a
47	chr7:97839870-97839920	LNCaP	prostate:	n/a
48	chr7:97840014-97840064	HIPEpiC	eye:	n/a
49	chr7:97839870-97839920	GM12878	blood:	n/a
50	chr7:97840014-97840064	RPTEC	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:97840173..97842487-chr7:97845725..97848039,2	MCF-7	breast:
2	chr7:97839660..97842920-chr7:97872632..97874833,3	K562	blood:
3	chr7:97840856..97842377-chr7:97845637..97848224,2	MCF-7	breast:
4	chr7:97841230..97842751-chr7:97851743..97853660,2	K562	blood:
5	chr10:8099641..8101523-chr7:97840811..97843007,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BHLHA15-1	chr7:97840778-97840810	NONHSAT122177
2	lnc-BHLHA15-1	chr7:97841568-97841603	NONHSAT122177

Variant related genes	Relation type
BHLHA15	TF binding region
BHLHA15	CpG island
ENSG00000107485	chromatin interactions
ENSG00000205356	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs372711989	chr7:97839418-97839419	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs530778584	chr7:97839468-97839469	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552185914	chr7:97839531-97839532	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs187755246	chr7:97839542-97839543	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs534834922	chr7:97839568-97839569	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs559794896	chr7:97839584-97839585	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs1969006	chr7:97839634-97839635	Weak transcription Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374567657	chr7:97839687-97839688	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs10261750	chr7:97839717-97839718	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs1969007	chr7:97839719-97839720	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529170068	chr7:97839767-97839768	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557341943	chr7:97839770-97839771	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs143421013	chr7:97839775-97839776	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543428340	chr7:97839785-97839786	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs543950922	chr7:97839786-97839787	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs548027329	chr7:97839789-97839790	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs72340270	chr7:97839793-97839794	Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs368094982	chr7:97839801-97839802	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs59218825	chr7:97839804-97839805	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs558614104	chr7:97839821-97839822	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs577009485	chr7:97839869-97839870	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs373535841	chr7:97839888-97839889	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs78770786	chr7:97839915-97839916	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs559410303	chr7:97839947-97839948	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530077055	chr7:97839972-97839973	Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs529805801	chr7:97840014-97840015	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs1532381	chr7:97840024-97840025	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs563225085	chr7:97840031-97840032	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs530739430	chr7:97840122-97840123	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs199627233	chr7:97840144-97840145	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs34616135	chr7:97840145-97840146	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552147272	chr7:97840147-97840148	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs570551583	chr7:97840188-97840189	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs117643288	chr7:97840315-97840316	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs182158364	chr7:97840392-97840393	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs28608623	chr7:97840449-97840450	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs13232368	chr7:97840602-97840603	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs546730968	chr7:97840676-97840677	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs140409516	chr7:97840738-97840739	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs535640981	chr7:97840833-97840834	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs200124108	chr7:97840877-97840878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs557568238	chr7:97840888-97840889	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs367601592	chr7:97840910-97840911	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs80021450	chr7:97840941-97840942	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs540182707	chr7:97840945-97840946	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs192613887	chr7:97840948-97840949	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs117355457	chr7:97840960-97840961	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs541027223	chr7:97840969-97840970	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs375068208	chr7:97840976-97840977	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs74427781	chr7:97841051-97841052	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Malignant melanoma	17260012	CNVD
Myoclonus-dystonia	17898012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164920	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97765800-97840800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:97782400-97839800	Weak transcription	Fetal Brain Male	brain
3	chr7:97793400-97841000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr7:97808600-97839800	Weak transcription	Right Atrium	heart
5	chr7:97812000-97841000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:97816600-97839800	Weak transcription	NH-A	brain
7	chr7:97822400-97841000	Weak transcription	K562	blood
8	chr7:97823000-97851000	Weak transcription	HSMMtube	muscle
9	chr7:97823800-97840000	Weak transcription	Small Intestine	intestine
10	chr7:97824400-97839800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr7:97824600-97839800	Weak transcription	Osteobl	bone
12	chr7:97824600-97840800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:97824800-97839800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:97824800-97839800	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr7:97824800-97840000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:97825200-97851000	Weak transcription	Fetal Lung	lung
17	chr7:97832200-97839600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:97832200-97839600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr7:97832200-97840600	Weak transcription	HMEC	breast
20	chr7:97833600-97840000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:97833800-97841000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr7:97834600-97841000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr7:97834600-97841000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr7:97835000-97840000	Weak transcription	Primary B cells from cord blood	blood
25	chr7:97835600-97839800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:97835600-97839800	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:97835600-97841000	Weak transcription	HUVEC	blood vessel
28	chr7:97836000-97851000	Weak transcription	NHLF	lung
29	chr7:97836400-97839800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr7:97836400-97839800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr7:97836400-97841000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr7:97836400-97841000	Weak transcription	GM12878-XiMat	blood
33	chr7:97836600-97839600	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:97836600-97839600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:97836600-97839800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:97836600-97839800	Weak transcription	Primary B cells from peripheral blood	blood
37	chr7:97836600-97839800	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr7:97836600-97839800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr7:97836600-97839800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr7:97836600-97839800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:97836600-97839800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:97836600-97839800	Weak transcription	Adipose Nuclei	Adipose
43	chr7:97836600-97839800	Weak transcription	Brain Angular Gyrus	brain
44	chr7:97836600-97839800	Weak transcription	Brain Anterior Caudate	brain
45	chr7:97836600-97839800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:97836600-97839800	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:97836600-97839800	Weak transcription	Colonic Mucosa	Colon
48	chr7:97836600-97839800	Weak transcription	Fetal Muscle Leg	muscle
49	chr7:97836600-97840200	Weak transcription	Aorta	Aorta
50	chr7:97836600-97840200	Weak transcription	Rectal Smooth Muscle	rectum

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