Variant report

Variant	esv3434811
Chromosome Location	chr7:4922326-4924674
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	ATF1	chr7:4922017-4922353	K562	blood:	n/a	n/a
2	ATF3	chr7:4923175-4923421	K562	blood:	n/a	chr7:4923236-4923244 chr7:4923240-4923249 chr7:4923342-4923351
3	BACH1	chr7:4923070-4923417	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr7:4923175-4923369	A549	lung:	n/a	chr7:4923312-4923328
5	BHLHE40	chr7:4923166-4923608	HepG2	liver:	n/a	chr7:4923312-4923328
6	BHLHE40	chr7:4922963-4923635	K562	blood:	n/a	chr7:4923312-4923328 chr7:4923148-4923164
7	CBX3	chr7:4923136-4923846	K562	blood:	n/a	n/a
8	CCNT2	chr7:4922509-4923651	K562	blood:	n/a	chr7:4923466-4923475 chr7:4923590-4923599 chr7:4923551-4923560
9	CEBPD	chr7:4923209-4923440	HepG2	liver:	n/a	n/a
10	CHD2	chr7:4923470-4923600	H1-hESC	embryonic stem cell:	n/a	n/a
11	CREB1	chr7:4922014-4922409	K562	blood:	n/a	n/a
12	CREB1	chr7:4923204-4923686	A549	lung:	n/a	n/a
13	CREB1	chr7:4923273-4923760	H1-hESC	embryonic stem cell:	n/a	n/a
14	CREB1	chr7:4923207-4923393	A549	lung:	n/a	n/a
15	CREB1	chr7:4921888-4922412	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr7:4923021-4923782	HepG2	liver:	n/a	n/a
17	CREB1	chr7:4923268-4923748	H1-hESC	embryonic stem cell:	n/a	n/a
18	CREB1	chr7:4921941-4922388	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr7:4923420-4923570	HMF	breast:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
20	CTCF	chr7:4923378-4923625	ECC-1	luminal epithelium:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
21	CTCF	chr7:4923197-4923683	A549	lung:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
22	CTCF	chr7:4923400-4923550	BE2_C	brain:	n/a	chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453
23	CTCF	chr7:4923540-4923690	HCM	heart:	n/a	chr7:4923542-4923560 chr7:4923545-4923558
24	CTCF	chr7:4922317-4922457	K562	blood:	n/a	n/a
25	CTCF	chr7:4922860-4923010	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr7:4923400-4923550	HRPEpiC	eye:	n/a	chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453
27	CTCF	chr7:4923460-4923610	GM12866	blood:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923545-4923558
28	CTCF	chr7:4923034-4923952	HCT-116	colon:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923748-4923761 chr7:4923319-4923332 chr7:4923314-4923332
29	CTCF	chr7:4923099-4923762	A549	lung:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923748-4923761 chr7:4923319-4923332 chr7:4923314-4923332
30	CTCF	chr7:4922223-4924010	A549	lung:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923020-4923030 chr7:4923545-4923558 chr7:4923748-4923761 chr7:4923319-4923332 chr7:4923314-4923332
31	CTCF	chr7:4923197-4923648	ProgFib	skin:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
32	CTCF	chr7:4923402-4923620	GM10266	blood:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
33	CTCF	chr7:4923420-4923570	WERI-Rb-1	eye:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
34	CTCF	chr7:4923440-4923590	GM12869	blood:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
35	CTCF	chr7:4922740-4922890	SK-N-SH_RA	brain:	n/a	n/a
36	CTCF	chr7:4923380-4923530	GM12865	blood:	n/a	chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453
37	CTCF	chr7:4923440-4923590	HCPEpiC	choroid plexus:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
38	CTCF	chr7:4923400-4923550	WERI-Rb-1	eye:	n/a	chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453
39	CTCF	chr7:4922936-4923720	K562	blood:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923020-4923030 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
40	CTCF	chr7:4923420-4923570	AG10803	skin:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
41	CTCF	chr7:4923420-4923570	HAc	cerebellar:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
42	CTCF	chr7:4923290-4923699	GM12878	blood:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
43	CTCF	chr7:4922460-4922610	HBMEC	blood vessel:	n/a	n/a
44	CTCF	chr7:4923420-4923570	HepG2	liver:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
45	CTCF	chr7:4923213-4923668	Spleen_OC	spleen:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
46	CTCF	chr7:4923480-4923630	BE2_C	brain:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923545-4923558
47	CTCF	chr7:4923407-4923625	GM19240	blood:	n/a	chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923545-4923558
48	CTCF	chr7:4923217-4923647	GM19238	blood:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332
49	CTCF	chr7:4923340-4923490	GM12870	blood:	n/a	chr7:4923440-4923453
50	CTCF	chr7:4923181-4923659	K562	blood:	n/a	chr7:4923315-4923331 chr7:4923542-4923560 chr7:4923508-4923521 chr7:4923507-4923523 chr7:4923506-4923524 chr7:4923316-4923329 chr7:4923508-4923521 chr7:4923440-4923453 chr7:4923316-4923329 chr7:4923545-4923558 chr7:4923319-4923332 chr7:4923314-4923332

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:4923383-4923433	AG09309	skin:	n/a
2	chr7:4924002-4924052	Hela-S3	cervix:	n/a
3	chr7:4923575-4923625	ProgFib	skin:	n/a
4	chr7:4924002-4924052	HEK293	kidney:	embryo
5	chr7:4924002-4924052	HEEpiC	esophagus:	n/a
6	chr7:4923383-4923433	GM12892	blood:	n/a
7	chr7:4922708-4922758	GM12891	blood:	n/a
8	chr7:4924002-4924052	SK-N-MC	brain:	n/a
9	chr7:4924002-4924052	HL-60	blood:	n/a
10	chr7:4923140-4923190	HRPEpiC	eye:	n/a
11	chr7:4922708-4922758	AG04449	skin:	fetal
12	chr7:4922565-4922615	LNCaP	prostate:	n/a
13	chr7:4924010-4924060	ProgFib	skin:	n/a
14	chr7:4922708-4922758	K562	blood:	n/a
15	chr7:4922565-4922615	HRPEpiC	eye:	n/a
16	chr7:4923383-4923433	LNCaP	prostate:	n/a
17	chr7:4922565-4922615	HMEC	breast:	n/a
18	chr7:4923383-4923433	HUVEC	blood vessel:	n/a
19	chr7:4922565-4922615	HEEpiC	esophagus:	n/a
20	chr7:4922565-4922615	GM12892	blood:	n/a
21	chr7:4922708-4922758	NH-A	brain:	n/a
22	chr7:4922708-4922758	HRPEpiC	eye:	n/a
23	chr7:4923615-4923665	IMR90	lung:	fetal
24	chr7:4922565-4922615	SK-N-MC	brain:	n/a
25	chr7:4923383-4923433	HEEpiC	esophagus:	n/a
26	chr7:4923615-4923665	NT2-D1	testis:	n/a
27	chr7:4924010-4924060	AG10803	skin:	n/a
28	chr7:4922708-4922758	PANC-1	pancreas:	n/a
29	chr7:4922708-4922758	MCF10A-Er-Src	breast:	n/a
30	chr7:4923615-4923665	H1-hESC	embryonic stem cell:	embryo
31	chr7:4923615-4923665	Caco-2	colon:	n/a
32	chr7:4924002-4924052	IMR90	lung:	fetal
33	chr7:4923615-4923665	HL-60	blood:	n/a
34	chr7:4922944-4922994	AG09319	gingival:	n/a
35	chr7:4923140-4923190	K562	blood:	n/a
36	chr7:4923383-4923433	HL-60	blood:	n/a
37	chr7:4923140-4923190	HPAEpiC	pulmonary alveolar:	n/a
38	chr7:4922708-4922758	Caco-2	colon:	n/a
39	chr7:4923140-4923190	MCF-7	breast:	n/a
40	chr7:4924002-4924052	CMK	blood:	n/a
41	chr7:4922944-4922994	SAEC	small airway:	n/a
42	chr7:4922708-4922758	HUVEC	blood vessel:	n/a
43	chr7:4923383-4923433	HNPCEpiC	eye:	n/a
44	chr7:4924010-4924060	K562	blood:	n/a
45	chr7:4923615-4923665	SK-N-SH_RA	brain:	n/a
46	chr7:4922565-4922615	SAEC	small airway:	n/a
47	chr7:4924010-4924060	HRCEpiC	kidney:	n/a
48	chr7:4922944-4922994	HL-60	blood:	n/a
49	chr7:4923140-4923190	Jurkat	blood:	n/a
50	chr7:4924010-4924060	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:4923091..4923826-chr7:5013336..5013934,3	K562	blood:
2	chr7:4869433..4870053-chr7:4923355..4923936,3	MCF-7	breast:
3	chr7:4920954..4923771-chr7:5084405..5086180,2	K562	blood:

Variant related genes	Relation type
RADIL	TF binding region
RADIL	CpG island
ENSG00000146587	chromatin interactions
ENSG00000272968	chromatin interactions
ENSG00000196204	chromatin interactions

Extended variants
information (count: 89 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142235866	chr7:4922327-4922328	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs7794335	chr7:4922341-4922342	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs553381837	chr7:4922363-4922364	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs77598962	chr7:4922373-4922374	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs532682894	chr7:4922476-4922477	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs539025969	chr7:4922484-4922485	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs376029553	chr7:4922534-4922535	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs185393558	chr7:4922535-4922536	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs575650147	chr7:4922536-4922537	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370345795	chr7:4922540-4922541	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs76522815	chr7:4922582-4922583	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs6961858	chr7:4922647-4922648	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs75801718	chr7:4922668-4922669	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs541258693	chr7:4922698-4922699	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs559382002	chr7:4922746-4922747	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542071767	chr7:4922768-4922769	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs372240851	chr7:4922778-4922779	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs533291446	chr7:4922808-4922809	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs533772725	chr7:4922809-4922810	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs563638266	chr7:4922847-4922848	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs530950241	chr7:4922987-4922988	Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs554155475	chr7:4923008-4923009	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs549161560	chr7:4923014-4923015	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs13307333	chr7:4923034-4923035	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs139310523	chr7:4923041-4923042	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs370196855	chr7:4923061-4923062	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs567789224	chr7:4923116-4923117	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs528675944	chr7:4923119-4923120	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs62450246	chr7:4923121-4923122	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs547200803	chr7:4923153-4923154	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs139048037	chr7:4923187-4923188	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs538914630	chr7:4923218-4923219	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs557256539	chr7:4923232-4923233	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs569266118	chr7:4923243-4923244	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs536655133	chr7:4923263-4923264	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs4724147	chr7:4923273-4923274	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	mRNA abundance
37	rs573725168	chr7:4923277-4923278	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs28404595	chr7:4923331-4923332	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs575625719	chr7:4923417-4923418	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs540844134	chr7:4923436-4923437	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs553165609	chr7:4923453-4923454	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs547156577	chr7:4923492-4923493	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs577927133	chr7:4923534-4923535	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs7781141	chr7:4923561-4923562	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs563577378	chr7:4923591-4923592	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs538666423	chr7:4923595-4923596	Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs530919551	chr7:4923604-4923605	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs528316495	chr7:4923650-4923651	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs574807798	chr7:4923652-4923653	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs575684894	chr7:4923653-4923654	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4921400-4922400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:4921400-4922400	Flanking Active TSS	Fetal Stomach	stomach
3	chr7:4921400-4922600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr7:4921400-4922600	Flanking Active TSS	Fetal Lung	lung
5	chr7:4921400-4923400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:4921400-4923400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:4921400-4923400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:4921400-4923400	Active TSS	Right Atrium	heart
9	chr7:4921600-4922400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:4921600-4922400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:4921600-4922400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
12	chr7:4921600-4922400	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr7:4921600-4922400	Enhancers	Gastric	stomach
14	chr7:4921600-4922600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:4921600-4922600	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
17	chr7:4921600-4922600	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr7:4921600-4922600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
19	chr7:4921600-4922600	Flanking Active TSS	Fetal Brain Female	brain
20	chr7:4921600-4922600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
21	chr7:4921600-4922600	Flanking Active TSS	HSMMtube	muscle
22	chr7:4921600-4922600	Flanking Active TSS	NHLF	lung
23	chr7:4921600-4922800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:4921600-4922800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:4921600-4922800	Bivalent/Poised TSS	Fetal Intestine Large	intestine
26	chr7:4921600-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
27	chr7:4921600-4922800	Flanking Active TSS	Osteobl	bone
28	chr7:4921600-4923000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:4921600-4923000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr7:4921600-4923200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:4921600-4923200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr7:4921600-4923400	Active TSS	H9 Cell Line	embryonic stem cell
33	chr7:4921600-4923400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
34	chr7:4921600-4923400	Active TSS	Left Ventricle	heart
35	chr7:4921600-4923600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
36	chr7:4921600-4923800	Active TSS	Aorta	Aorta
37	chr7:4921600-4923800	Active TSS	Brain Angular Gyrus	brain
38	chr7:4921800-4922400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr7:4921800-4922400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:4921800-4922600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:4921800-4922600	Flanking Active TSS	Right Ventricle	heart
42	chr7:4921800-4922600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
43	chr7:4921800-4922600	Flanking Active TSS	HSMM	muscle
44	chr7:4921800-4922600	Flanking Active TSS	NH-A	brain
45	chr7:4921800-4922800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
46	chr7:4921800-4922800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
47	chr7:4921800-4922800	Active TSS	Fetal Heart	heart
48	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
49	chr7:4921800-4922800	Flanking Bivalent TSS/Enh	Placenta	Placenta
50	chr7:4921800-4922800	Enhancers	Pancreas	Pancrea

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