Variant report

Variant	esv3359659
Chromosome Location	chr7:149410544-149413392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:372)
CpG islands
(count:427)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:372 , 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	chr7:149412228-149412241	K562	blood:	n/a	n/a
2	ATF3	chr7:149411776-149412451	K562	blood:	n/a	chr7:149411982-149411991 chr7:149411961-149411970
3	BACH1	chr7:149412439-149412689	K562	blood:	n/a	n/a
4	BACH1	chr7:149412072-149412408	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr7:149411239-149411811	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr7:149412198-149412213	K562	blood:	n/a	n/a
7	BACH1	chr7:149411377-149411528	K562	blood:	n/a	n/a
8	BHLHE40	chr7:149411638-149412267	HepG2	liver:	n/a	n/a
9	BHLHE40	chr7:149411356-149413272	K562	blood:	n/a	chr7:149411513-149411529
10	BHLHE40	chr7:149411306-149412481	GM12878	blood:	n/a	chr7:149411513-149411529
11	BRCA1	chr7:149412231-149412563	HepG2	liver:	n/a	n/a
12	CBX3	chr7:149411059-149411911	K562	blood:	n/a	n/a
13	CBX3	chr7:149411297-149411799	K562	blood:	n/a	n/a
14	CBX3	chr7:149412003-149412435	K562	blood:	n/a	n/a
15	CCNT2	chr7:149411190-149413009	K562	blood:	n/a	chr7:149412487-149412496
16	CEBPB	chr7:149411515-149411625	HepG2	liver:	n/a	n/a
17	CEBPB	chr7:149412545-149412877	K562	blood:	n/a	n/a
18	CEBPD	chr7:149411846-149412258	HepG2	liver:	n/a	n/a
19	CHD1	chr7:149411356-149411509	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr7:149412125-149412410	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD2	chr7:149411554-149411845	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr7:149411400-149412925	GM12878	blood:	n/a	n/a
23	CHD2	chr7:149412018-149412720	HepG2	liver:	n/a	n/a
24	CHD2	chr7:149412684-149412869	K562	blood:	n/a	n/a
25	CHD2	chr7:149411384-149412430	K562	blood:	n/a	n/a
26	CHD2	chr7:149411658-149412042	Hela-S3	cervix:	n/a	n/a
27	CREB1	chr7:149411585-149412439	K562	blood:	n/a	n/a
28	CREB1	chr7:149411220-149412402	H1-hESC	embryonic stem cell:	n/a	n/a
29	CREB1	chr7:149411587-149412376	GM12878	blood:	n/a	n/a
30	CREB1	chr7:149411497-149412290	A549	lung:	n/a	n/a
31	CREB1	chr7:149411300-149412407	HepG2	liver:	n/a	n/a
32	CREB1	chr7:149411164-149412390	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr7:149411270-149413057	K562	blood:	n/a	n/a
34	CTCF	chr7:149411750-149411923	GM12878	blood:	n/a	n/a
35	CTCF	chr7:149411799-149411956	Spleen_OC	spleen:	n/a	n/a
36	CTCF	chr7:149411500-149411650	BJ	skin:	n/a	n/a
37	CTCF	chr7:149412140-149412290	GM12875	blood:	n/a	n/a
38	CTCF	chr7:149411460-149411610	SAEC	small airway:	n/a	n/a
39	CTCF	chr7:149412617-149412668	Fibrobl	skin:	n/a	n/a
40	CUX1	chr7:149412262-149412325	K562	blood:	n/a	n/a
41	CUX1	chr7:149411506-149411715	K562	blood:	n/a	n/a
42	E2F4	chr7:149411381-149412395	K562	blood:	n/a	chr7:149411982-149411991 chr7:149411480-149411489 chr7:149411844-149411854
43	E2F4	chr7:149411687-149412007	MCF10A-Er-Src	breast:	n/a	chr7:149411982-149411991 chr7:149411844-149411854
44	E2F4	chr7:149412248-149412474	MCF10A-Er-Src	breast:	n/a	n/a
45	E2F6	chr7:149411103-149411622	H1-hESC	embryonic stem cell:	n/a	chr7:149411480-149411489
46	E2F6	chr7:149411960-149412260	K562	blood:	n/a	chr7:149411982-149411991
47	E2F6	chr7:149411422-149411959	K562	blood:	n/a	chr7:149411480-149411489 chr7:149411844-149411854
48	E2F6	chr7:149411271-149412846	K562	blood:	n/a	chr7:149412484-149412494 chr7:149411982-149411991 chr7:149411480-149411489 chr7:149411844-149411854
49	E2F6	chr7:149411952-149412217	K562	blood:	n/a	chr7:149411982-149411991
50	E2F6	chr7:149410854-149411771	H1-hESC	embryonic stem cell:	n/a	chr7:149410926-149410933 chr7:149411480-149411489 chr7:149410988-149410997

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:149412290-149412340	SK-N-MC	brain:	n/a
2	chr7:149412290-149412340	SK-N-SH	brain:	n/a
3	chr7:149411377-149411427	HCPEpiC	choroid plexus:	n/a
4	chr7:149411377-149411427	HNPCEpiC	eye:	n/a
5	chr7:149411652-149411702	BJ	skin:	n/a
6	chr7:149411377-149411427	GM12878	blood:	n/a
7	chr7:149411652-149411702	NH-A	brain:	n/a
8	chr7:149412290-149412340	K562	blood:	n/a
9	chr7:149411377-149411427	SAEC	small airway:	n/a
10	chr7:149411256-149411306	SK-N-MC	brain:	n/a
11	chr7:149412760-149412810	CMK	blood:	n/a
12	chr7:149412290-149412340	HEEpiC	esophagus:	n/a
13	chr7:149411256-149411306	Hepatocyte	liver:	n/a
14	chr7:149411652-149411702	SAEC	small airway:	n/a
15	chr7:149412290-149412340	AG09309	skin:	n/a
16	chr7:149412290-149412340	PANC-1	pancreas:	n/a
17	chr7:149411652-149411702	GM12892	blood:	n/a
18	chr7:149411652-149411702	HNPCEpiC	eye:	n/a
19	chr7:149412760-149412810	SK-N-SH_RA	brain:	n/a
20	chr7:149411652-149411702	NB4	blood:	n/a
21	chr7:149411652-149411702	GM12891	blood:	n/a
22	chr7:149412290-149412340	ovcar-3	ovarian:	n/a
23	chr7:149411377-149411427	HEEpiC	esophagus:	n/a
24	chr7:149412290-149412340	BE2_C	brain:	n/a
25	chr7:149412760-149412810	HNPCEpiC	eye:	n/a
26	chr7:149411377-149411427	HL-60	blood:	n/a
27	chr7:149410923-149410973	AG09309	skin:	n/a
28	chr7:149411652-149411702	SK-N-SH	brain:	n/a
29	chr7:149411256-149411306	PrEC	prostate:	n/a
30	chr7:149411256-149411306	Hela-S3	cervix:	n/a
31	chr7:149412760-149412810	GM19239	blood:	n/a
32	chr7:149412290-149412340	NHDF-neo	bronchial:	n/a
33	chr7:149412760-149412810	NHBE	bronchial:	n/a
34	chr7:149412290-149412340	HEK293	kidney:	embryo
35	chr7:149410923-149410973	SK-N-MC	brain:	n/a
36	chr7:149411377-149411427	HCM	heart:	n/a
37	chr7:149410923-149410973	K562	blood:	n/a
38	chr7:149411652-149411702	BE2_C	brain:	n/a
39	chr7:149412290-149412340	LNCaP	prostate:	n/a
40	chr7:149411498-149411548	NHBE	bronchial:	n/a
41	chr7:149411498-149411548	PANC-1	pancreas:	n/a
42	chr7:149411652-149411702	SK-N-SH_RA	brain:	n/a
43	chr7:149412760-149412810	HRCEpiC	kidney:	n/a
44	chr7:149410923-149410973	HRCEpiC	kidney:	n/a
45	chr7:149412760-149412810	AG04449	skin:	fetal
46	chr7:149411498-149411548	CMK	blood:	n/a
47	chr7:149412290-149412340	HMEC	breast:	n/a
48	chr7:149411377-149411427	MCF10A-Er-Src	breast:	n/a
49	chr7:149411256-149411306	SKMC	muscle:	n/a
50	chr7:149412760-149412810	SK-N-SH	brain:	n/a

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:149413288..149414042-chrX:117118716..117119636,2	MCF-7	breast:
2	chr7:149404563..149406665-chr7:149410046..149411714,2	MCF-7	breast:
3	chr7:149410803..149414471-chr7:149419495..149421257,3	K562	blood:
4	chr7:149395351..149398006-chr7:149410098..149411759,2	MCF-7	breast:
5	chr7:149320371..149323534-chr7:149411288..149414666,4	K562	blood:
6	chr7:149399650..149401468-chr7:149408675..149410653,2	K562	blood:
7	chr7:149320427..149322240-chr7:149410795..149412793,2	MCF-7	breast:
8	chr7:149319988..149323136-chr7:149410219..149413557,5	MCF-7	breast:
9	chr7:149193456..149195657-chr7:149412683..149414195,2	MCF-7	breast:
10	chr7:149413328..149416314-chr7:149417568..149419723,2	MCF-7	breast:
11	chr7:149395110..149397446-chr7:149409565..149411278,3	K562	blood:
12	chr7:149409957..149411791-chr7:149503300..149505720,2	K562	blood:
13	chr7:149412250..149413800-chr7:149430206..149431828,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRBA1	TF binding region
KRBA1	CpG island
ENSG00000181220	chromatin interactions
ENSG00000003096	chromatin interactions
ENSG00000133619	chromatin interactions
ENSG00000133624	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371189485	chr7:149410555-149410556	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs535082974	chr7:149410595-149410596	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34145329	chr7:149410621-149410622	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs555011597	chr7:149410624-149410625	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs855749	chr7:149410638-149410639	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142995278	chr7:149410640-149410641	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs557717253	chr7:149410644-149410645	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs577859352	chr7:149410650-149410651	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs146149752	chr7:149410654-149410655	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs117522820	chr7:149410743-149410744	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192132748	chr7:149410749-149410750	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs542258350	chr7:149410761-149410762	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs184476579	chr7:149410789-149410790	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs75156178	chr7:149410858-149410859	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs189242902	chr7:149410890-149410891	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs79515481	chr7:149410931-149410932	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs76635110	chr7:149410937-149410938	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs855750	chr7:149410948-149410949	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181991135	chr7:149410949-149410950	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs112902259	chr7:149410986-149410987	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs111500013	chr7:149411001-149411002	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs184171318	chr7:149411011-149411012	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs548598516	chr7:149411040-149411041	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs189547413	chr7:149411041-149411042	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs368175853	chr7:149411043-149411044	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs535991263	chr7:149411050-149411051	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs80248252	chr7:149411062-149411063	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs74343688	chr7:149411075-149411076	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs117614008	chr7:149411086-149411087	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs556943353	chr7:149411122-149411123	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs567566454	chr7:149411131-149411132	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs369490937	chr7:149411182-149411183	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs574016559	chr7:149411189-149411190	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs77142623	chr7:149411254-149411255	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs73168026	chr7:149411262-149411263	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs572558673	chr7:149411461-149411462	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs181112802	chr7:149411473-149411474	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs564605466	chr7:149411481-149411482	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs855751	chr7:149411486-149411487	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550386184	chr7:149411490-149411491	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs563620165	chr7:149411529-149411530	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs73168027	chr7:149411618-149411619	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112481963	chr7:149411692-149411693	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs11332386	chr7:149411726-149411727	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs565296690	chr7:149411730-149411731	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs150826683	chr7:149411737-149411738	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs551161720	chr7:149411755-149411756	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571336690	chr7:149411759-149411760	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs7784080	chr7:149411887-149411888	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs7784083	chr7:149411898-149411899	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	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:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149408000-149410600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:149408800-149410600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr7:149409200-149411200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:149409400-149411000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:149410200-149411000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr7:149410200-149411000	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr7:149410400-149410800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:149410400-149411000	Weak transcription	Pancreas	Pancrea
9	chr7:149410400-149411000	Weak transcription	HepG2	liver
10	chr7:149410400-149411200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr7:149410400-149412200	Enhancers	Fetal Brain Male	brain
12	chr7:149410600-149410800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr7:149410600-149410800	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr7:149410600-149410800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:149410600-149410800	Enhancers	Adipose Nuclei	Adipose
16	chr7:149410600-149410800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr7:149410600-149411000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:149410600-149411000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
19	chr7:149410600-149411000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr7:149410600-149411000	ZNF genes & repeats	Fetal Muscle Leg	muscle
21	chr7:149410600-149411000	Bivalent Enhancer	Placenta	Placenta
22	chr7:149410600-149411200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:149410600-149411400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
24	chr7:149410800-149411000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr7:149410800-149411000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
26	chr7:149410800-149411000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr7:149410800-149411000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr7:149410800-149411000	Enhancers	Primary hematopoietic stem cells	blood
29	chr7:149410800-149411000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:149410800-149411000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:149410800-149411000	Enhancers	Brain Angular Gyrus	brain
32	chr7:149410800-149411000	Enhancers	Brain Anterior Caudate	brain
33	chr7:149410800-149411000	Enhancers	Brain Cingulate Gyrus	brain
34	chr7:149410800-149411000	Enhancers	Brain Hippocampus Middle	brain
35	chr7:149410800-149411000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr7:149410800-149411000	Enhancers	Duodenum Mucosa	Duodenum
37	chr7:149410800-149411000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr7:149410800-149411000	Bivalent Enhancer	Fetal Intestine Small	intestine
39	chr7:149410800-149411000	Enhancers	Ovary	ovary
40	chr7:149410800-149411000	Active TSS	Stomach Smooth Muscle	stomach
41	chr7:149410800-149411200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
42	chr7:149410800-149411200	Enhancers	Primary B cells from cord blood	blood
43	chr7:149410800-149411200	Enhancers	Primary B cells from peripheral blood	blood
44	chr7:149410800-149411200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:149410800-149411200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:149410800-149411200	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr7:149410800-149411200	Enhancers	Right Atrium	heart
48	chr7:149410800-149411400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
49	chr7:149410800-149411400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
50	chr7:149410800-149411400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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