Variant report

Variant	esv3397814
Chromosome Location	chr7:149468844-149471392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:362)
CpG islands
(count:671)
Chromatin interactive
region (count:15)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:362 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:149468988-149469116	K562	blood:	n/a	n/a
2	BACH1	chr7:149470828-149470909	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr7:149470146-149470517	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr7:149471378-149471536	H1-hESC	embryonic stem cell:	n/a	n/a
5	BCLAF1	chr7:149468749-149469265	K562	blood:	n/a	chr7:149468998-149469007
6	BHLHE40	chr7:149470761-149470937	K562	blood:	n/a	n/a
7	BHLHE40	chr7:149468449-149469169	K562	blood:	n/a	n/a
8	BHLHE40	chr7:149471336-149471864	K562	blood:	n/a	n/a
9	BHLHE40	chr7:149469561-149469696	K562	blood:	n/a	n/a
10	BHLHE40	chr7:149468628-149469161	GM12878	blood:	n/a	n/a
11	BHLHE40	chr7:149470191-149470441	K562	blood:	n/a	chr7:149470279-149470295
12	CBX3	chr7:149468749-149469600	K562	blood:	n/a	n/a
13	CCNT2	chr7:149468580-149469746	K562	blood:	n/a	chr7:149469469-149469478
14	CCNT2	chr7:149470128-149471821	K562	blood:	n/a	chr7:149470896-149470905
15	CHD2	chr7:149468531-149469658	GM12878	blood:	n/a	chr7:149469469-149469479
16	CHD2	chr7:149471330-149471343	HepG2	liver:	n/a	n/a
17	CHD2	chr7:149468622-149469614	Hela-S3	cervix:	n/a	chr7:149469469-149469479
18	CHD2	chr7:149470774-149471052	K562	blood:	n/a	n/a
19	CHD2	chr7:149470237-149470425	K562	blood:	n/a	n/a
20	CHD2	chr7:149468627-149469634	H1-hESC	embryonic stem cell:	n/a	chr7:149469469-149469479
21	CHD2	chr7:149468557-149469711	K562	blood:	n/a	chr7:149469469-149469479
22	CHD2	chr7:149468623-149469139	HepG2	liver:	n/a	n/a
23	CREB1	chr7:149468794-149469187	A549	lung:	n/a	n/a
24	CTBP2	chr7:149468143-149469221	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:149469026-149469128	K562	blood:	n/a	n/a
26	CTCF	chr7:149470761-149470849	MCF-7	breast:	n/a	n/a
27	CTCF	chr7:149468844-149469025	Spleen_OC	spleen:	n/a	n/a
28	CTCF	chr7:149470820-149470970	HUVEC	blood vessel:	n/a	n/a
29	CTCF	chr7:149470680-149470830	GM12873	blood:	n/a	n/a
30	CUX1	chr7:149468985-149469078	K562	blood:	n/a	n/a
31	E2F4	chr7:149468740-149469267	MCF10A-Er-Src	breast:	n/a	n/a
32	E2F6	chr7:149470889-149471128	K562	blood:	n/a	chr7:149471004-149471016 chr7:149470896-149470905
33	E2F6	chr7:149470064-149470468	K562	blood:	n/a	chr7:149470156-149470165
34	E2F6	chr7:149469362-149469509	K562	blood:	n/a	chr7:149469387-149469396
35	E2F6	chr7:149470597-149470872	K562	blood:	n/a	n/a
36	E2F6	chr7:149468641-149469114	K562	blood:	n/a	n/a
37	EBF1	chr7:149470918-149471133	GM12878	blood:	n/a	chr7:149471086-149471099 chr7:149471087-149471097 chr7:149471088-149471097
38	EBF1	chr7:149468851-149469106	GM12878	blood:	n/a	n/a
39	EBF1	chr7:149470864-149471158	GM12878	blood:	n/a	chr7:149471086-149471099 chr7:149471087-149471097 chr7:149471088-149471097
40	EGR1	chr7:149468709-149469302	K562	blood:	n/a	chr7:149468915-149468929 chr7:149468859-149468873 chr7:149468875-149468889
41	EGR1	chr7:149468802-149468965	GM12878	blood:	n/a	chr7:149468915-149468929 chr7:149468859-149468873 chr7:149468875-149468889
42	EGR1	chr7:149470515-149470742	K562	blood:	n/a	n/a
43	EGR1	chr7:149468893-149469231	H1-hESC	embryonic stem cell:	n/a	chr7:149468915-149468929
44	EGR1	chr7:149468804-149469309	K562	blood:	n/a	chr7:149468915-149468929 chr7:149468859-149468873 chr7:149468875-149468889
45	EGR1	chr7:149468804-149468961	GM12878	blood:	n/a	chr7:149468915-149468929 chr7:149468859-149468873 chr7:149468875-149468889
46	ELF1	chr7:149468604-149469341	MCF-7	breast:	n/a	chr7:149468606-149468618 chr7:149469044-149469053
47	ELF1	chr7:149468683-149469169	GM12878	blood:	n/a	chr7:149469044-149469053
48	ELF1	chr7:149469356-149469575	K562	blood:	n/a	chr7:149469561-149469573
49	ELF1	chr7:149468524-149469397	K562	blood:	n/a	chr7:149468606-149468618 chr7:149469044-149469053
50	ELF1	chr7:149468623-149469267	GM12878	blood:	n/a	chr7:149469044-149469053

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149470694-149470744	SKMC	muscle:	n/a
2	chr7:149470694-149470744	A549	lung:	n/a
3	chr7:149470820-149470870	ProgFib	skin:	n/a
4	chr7:149471044-149471094	AoSMC	blood vessel:	n/a
5	chr7:149470809-149470859	SK-N-SH_RA	brain:	n/a
6	chr7:149470335-149470385	Hepatocyte	liver:	n/a
7	chr7:149469722-149469772	PrEC	prostate:	n/a
8	chr7:149470343-149470393	HCPEpiC	choroid plexus:	n/a
9	chr7:149470809-149470859	HIPEpiC	eye:	n/a
10	chr7:149470694-149470744	AG10803	skin:	n/a
11	chr7:149470820-149470870	HNPCEpiC	eye:	n/a
12	chr7:149470335-149470385	HUVEC	blood vessel:	n/a
13	chr7:149468989-149469039	AoSMC	blood vessel:	n/a
14	chr7:149470809-149470859	HCM	heart:	n/a
15	chr7:149468994-149469044	AG10803	skin:	n/a
16	chr7:149470343-149470393	HepG2	liver:	n/a
17	chr7:149470809-149470859	HRCEpiC	kidney:	n/a
18	chr7:149470820-149470870	AG10803	skin:	n/a
19	chr7:149470284-149470334	AG09319	gingival:	n/a
20	chr7:149471044-149471094	Hepatocyte	liver:	n/a
21	chr7:149471044-149471094	BJ	skin:	n/a
22	chr7:149469722-149469772	RPTEC	kidney:	n/a
23	chr7:149470694-149470744	HCT-116	colon:	n/a
24	chr7:149470820-149470870	HRE	kidney:	n/a
25	chr7:149470809-149470859	HCF	heart:	n/a
26	chr7:149468989-149469039	HCF	heart:	n/a
27	chr7:149470343-149470393	HNPCEpiC	eye:	n/a
28	chr7:149470809-149470859	HEK293	kidney:	embryo
29	chr7:149470295-149470345	HAEpiC	amniotic membrane:	n/a
30	chr7:149471044-149471094	K562	blood:	n/a
31	chr7:149469722-149469772	HEK293	kidney:	embryo
32	chr7:149470335-149470385	NH-A	brain:	n/a
33	chr7:149469722-149469772	HCM	heart:	n/a
34	chr7:149470809-149470859	SK-N-MC	brain:	n/a
35	chr7:149469722-149469772	ProgFib	skin:	n/a
36	chr7:149470343-149470393	SK-N-SH_RA	brain:	n/a
37	chr7:149470284-149470334	NT2-D1	testis:	n/a
38	chr7:149470335-149470385	GM12892	blood:	n/a
39	chr7:149471044-149471094	U87	brain:	n/a
40	chr7:149468989-149469039	HEEpiC	esophagus:	n/a
41	chr7:149468994-149469044	BE2_C	brain:	n/a
42	chr7:149470284-149470334	Jurkat	blood:	n/a
43	chr7:149470809-149470859	A549	lung:	n/a
44	chr7:149470284-149470334	CMK	blood:	n/a
45	chr7:149470820-149470870	H1-hESC	embryonic stem cell:	embryo
46	chr7:149470335-149470385	H1-hESC	embryonic stem cell:	embryo
47	chr7:149471044-149471094	RPTEC	kidney:	n/a
48	chr7:149468994-149469044	HRCEpiC	kidney:	n/a
49	chr7:149468989-149469039	NB4	blood:	n/a
50	chr7:149471044-149471094	AG04450	lung:	fetal

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149450433..149451411-chr7:149468680..149469637,2	K562	blood:
2	chr7:149467684..149471867-chr7:149482733..149487472,6	K562	blood:
3	chr7:149468983..149471079-chr7:149493148..149495214,3	MCF-7	breast:
4	chr7:149468652..149471157-chr7:150776207..150778297,2	MCF-7	breast:
5	chr7:149469487..149472454-chr7:149520687..149524368,4	MCF-7	breast:
6	chr7:149318463..149321667-chr7:149470267..149475750,6	K562	blood:
7	chr7:149425054..149427794-chr7:149470002..149471582,2	MCF-7	breast:
8	chr7:149470006..149471576-chr7:149569800..149572611,2	MCF-7	breast:
9	chr7:149469665..149471242-chr7:149492952..149494694,2	K562	blood:
10	chr7:149459369..149463521-chr7:149463788..149469028,7	MCF-7	breast:
11	chr7:149468811..149471165-chr7:149492241..149495834,3	K562	blood:
12	chr7:149158020..149159528-chr7:149468647..149470369,2	K562	blood:
13	chr7:149320616..149324173-chr7:149466840..149469728,4	K562	blood:
14	chr7:149470907..149472534-chr7:149538103..149539944,2	MCF-7	breast:
15	chr7:149466134..149470595-chr7:149532425..149537706,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KRBA1-2	chr7:149470297-149473130	NONHSAT124042

No data

Variant related genes	Relation type
SSPO	TF binding region
ZNF467	TF binding region
SSPO	CpG island
ZNF467	CpG island
ENSG00000196453	chromatin interactions
ENSG00000197558	chromatin interactions
ENSG00000133624	chromatin interactions
ENSG00000204934	chromatin interactions
ENSG00000171130	chromatin interactions
ENSG00000133619	chromatin interactions
ENSG00000164896	chromatin interactions
ENSG00000106479	chromatin interactions

Extended variants
information (count: 47 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530236462	chr7:149468868-149468869	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs561916497	chr7:149468922-149468923	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs560351363	chr7:149468985-149468986	Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs532660355	chr7:149469002-149469003	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs2579590	chr7:149469175-149469176	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs13308643	chr7:149469395-149469396	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs569535286	chr7:149469413-149469414	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs531165253	chr7:149469476-149469477	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs369431151	chr7:149469611-149469612	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs371910585	chr7:149469630-149469631	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs41553	chr7:149469631-149469632	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs568034009	chr7:149469692-149469693	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs190822417	chr7:149469708-149469709	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs553993478	chr7:149469732-149469733	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs115631367	chr7:149469739-149469740	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs41554	chr7:149469767-149469768	Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs539647687	chr7:149469838-149469839	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs13308961	chr7:149469870-149469871	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs112521747	chr7:149469902-149469903	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs183010964	chr7:149469942-149469943	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs1659458	chr7:149470055-149470056	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192979341	chr7:149470112-149470113	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
23	rs544252997	chr7:149470135-149470136	Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs554978459	chr7:149470413-149470414	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
25	rs1635785	chr7:149470438-149470439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs377542041	chr7:149470575-149470576	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
27	rs540370287	chr7:149470711-149470712	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
28	rs41555	chr7:149470742-149470743	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
29	rs151336089	chr7:149470782-149470783	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
30	rs13310474	chr7:149470786-149470787	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
31	rs13310475	chr7:149470789-149470790	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
32	rs529249842	chr7:149470855-149470856	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
33	rs545994196	chr7:149470873-149470874	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
34	rs544412633	chr7:149470875-149470876	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
35	rs574757672	chr7:149470917-149470918	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
36	rs543212036	chr7:149470948-149470949	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
37	rs200063896	chr7:149471001-149471002	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
38	rs562739067	chr7:149471087-149471088	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
39	rs532051670	chr7:149471111-149471112	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
40	rs543786186	chr7:149471142-149471143	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
41	rs376853500	chr7:149471221-149471222	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
42	rs1659435	chr7:149471285-149471286	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
43	rs114447105	chr7:149471293-149471294	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
44	rs568080425	chr7:149471318-149471319	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
45	rs527371399	chr7:149471351-149471352	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
46	rs547561564	chr7:149471367-149471368	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
47	rs10236593	chr7:149471381-149471382	Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Acute myeloid leukemia	16864856	CNVD
Autism	20808228	CNVD
Breast cancer	21509527	CNVD
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Liver carcinoma	19366792	CNVD
Long-qt syndrome	17576883	CNVD
Bradycardia syndrome	17576883	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149467000-149469000	Weak transcription	Gastric	stomach
2	chr7:149468200-149469400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:149468200-149469600	Active TSS	NH-A	brain
4	chr7:149468200-149471000	Active TSS	Duodenum Mucosa	Duodenum
5	chr7:149468200-149471200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr7:149468200-149471600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr7:149468400-149469000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:149468400-149469000	Active TSS	Fetal Brain Female	brain
9	chr7:149468400-149469400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:149468400-149469400	Active TSS	Colonic Mucosa	Colon
11	chr7:149468400-149469600	Active TSS	NHEK	skin
12	chr7:149468400-149470200	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:149468400-149470600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr7:149468400-149470600	Active TSS	Fetal Kidney	kidney
15	chr7:149468400-149470600	Active TSS	HSMM	muscle
16	chr7:149468400-149471200	Active TSS	Colon Smooth Muscle	Colon
17	chr7:149468400-149471200	Active TSS	Psoas Muscle	Psoas
18	chr7:149468400-149471200	Active TSS	Right Ventricle	heart
19	chr7:149468400-149471400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr7:149468400-149471400	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr7:149468400-149471400	Active TSS	Rectal Smooth Muscle	rectum
22	chr7:149468400-149471600	Active TSS	Left Ventricle	heart
23	chr7:149468400-149471800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr7:149468600-149469000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr7:149468600-149469000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:149468600-149469200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr7:149468600-149469400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:149468600-149469400	Active TSS	HepG2	liver
29	chr7:149468600-149469400	Active TSS	HMEC	breast
30	chr7:149468600-149469600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:149468600-149469600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:149468600-149469600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr7:149468600-149469600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:149468600-149469800	Active TSS	Thymus	Thymus
35	chr7:149468600-149470000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:149468600-149470200	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr7:149468600-149470200	Active TSS	H1 Cell Line	embryonic stem cell
38	chr7:149468600-149470200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr7:149468600-149470200	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr7:149468600-149470200	Active TSS	Liver	Liver
41	chr7:149468600-149470200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr7:149468600-149470200	Active TSS	Stomach Smooth Muscle	stomach
43	chr7:149468600-149470200	Active TSS	GM12878-XiMat	blood
44	chr7:149468600-149470400	Bivalent/Poised TSS	HSMMtube	muscle
45	chr7:149468600-149470600	Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr7:149468600-149470600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr7:149468600-149470600	Active TSS	Brain Angular Gyrus	brain
48	chr7:149468600-149470600	Active TSS	Fetal Lung	lung
49	chr7:149468600-149470600	Active TSS	Hela-S3	cervix
50	chr7:149468600-149470800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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