Variant report

Variant	rs16917786
Chromosome Location	chr8:96515724-96515725
allele	C/T
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	CTCF	chr8:96515720-96515870	GM12872	blood:	n/a	chr8:96515820-96515833
2	CTCF	chr8:96515720-96515870	K562	blood:	n/a	chr8:96515820-96515833
3	CTCF	chr8:96515720-96515870	HCT-116	colon:	n/a	chr8:96515820-96515833
4	CTCF	chr8:96515660-96515810	BE2_C	brain:	n/a	n/a
5	RAD21	chr8:96515664-96515973	Hela-S3	cervix:	n/a	chr8:96515798-96515810
6	RAD21	chr8:96515607-96516104	MCF-7	breast:	n/a	chr8:96515798-96515810
7	SMC3	chr8:96515691-96515939	Hela-S3	cervix:	n/a	chr8:96515819-96515833
8	CTCF	chr8:96515700-96515850	HVMF	connective:	n/a	chr8:96515820-96515833
9	CTCF	chr8:96515694-96515929	HUVEC	blood vessel:	n/a	chr8:96515820-96515833
10	CTCF	chr8:96515707-96515921	ProgFib	skin:	n/a	chr8:96515820-96515833
11	CTCF	chr8:96515720-96515870	AoAF	blood vessel:	n/a	chr8:96515820-96515833
12	CTCF	chr8:96515718-96515957	GM12878	blood:	n/a	chr8:96515820-96515833
13	CTCF	chr8:96515720-96515870	HAc	cerebellar:	n/a	chr8:96515820-96515833
14	RAD21	chr8:96515631-96515908	HepG2	liver:	n/a	chr8:96515798-96515810
15	CTCF	chr8:96515568-96516050	HCT-116	colon:	n/a	chr8:96515820-96515833
16	CTCF	chr8:96515660-96515810	HCM	heart:	n/a	n/a
17	RAD21	chr8:96515713-96515918	SK-N-SH_RA	brain:	n/a	chr8:96515798-96515810
18	RAD21	chr8:96515540-96516118	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
19	RAD21	chr8:96515658-96516044	IMR90	lung:	n/a	chr8:96515798-96515810
20	CTCF	chr8:96515700-96515850	HMEC	breast:	n/a	chr8:96515820-96515833
21	CTCF	chr8:96515700-96515850	HCT-116	colon:	n/a	chr8:96515820-96515833
22	CTCF	chr8:96515720-96515870	AG09319	gingival:	n/a	chr8:96515820-96515833
23	CTCF	chr8:96515720-96515870	SAEC	small airway:	n/a	chr8:96515820-96515833
24	MYC	chr8:96515696-96515888	MCF10A-Er-Src	breast:	n/a	n/a
25	RAD21	chr8:96515619-96516038	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
26	CTCF	chr8:96515553-96516093	MCF-7	breast:	n/a	chr8:96515820-96515833
27	CTCF	chr8:96515720-96515870	HRPEpiC	eye:	n/a	chr8:96515820-96515833
28	RAD21	chr8:96515606-96516052	H1-hESC	embryonic stem cell:	n/a	chr8:96515798-96515810
29	CTCF	chr8:96515632-96516039	IMR90	lung:	n/a	chr8:96515820-96515833
30	CTCF	chr8:96515587-96516098	MCF-7	breast:	n/a	chr8:96515820-96515833
31	CTCF	chr8:96515700-96515850	HFF	foreskin:	n/a	chr8:96515820-96515833
32	RAD21	chr8:96515631-96516141	HCT-116	colon:	n/a	chr8:96515798-96515810
33	CTCF	chr8:96515700-96515850	RPTEC	kidney:	n/a	chr8:96515820-96515833
34	CTCF	chr8:96515700-96515850	Caco-2	colon:	n/a	chr8:96515820-96515833
35	CTCF	chr8:96515660-96515810	HVMF	connective:	n/a	n/a
36	CTCF	chr8:96515700-96515850	SAEC	small airway:	n/a	chr8:96515820-96515833
37	CTCF	chr8:96515700-96515850	GM06990	blood:	n/a	chr8:96515820-96515833
38	CTCF	chr8:96515660-96515810	HFF-Myc	foreskin:	n/a	n/a
39	CTCF	chr8:96515720-96515870	NHDF-neo	bronchial:	n/a	chr8:96515820-96515833
40	RAD21	chr8:96515568-96516003	MCF-7	breast:	n/a	chr8:96515798-96515810
41	CTCF	chr8:96515720-96515870	HMEC	breast:	n/a	chr8:96515820-96515833
42	CTCF	chr8:96515720-96515870	GM12866	blood:	n/a	chr8:96515820-96515833
43	CTCF	chr8:96515719-96515925	MCF-7	breast:	n/a	chr8:96515820-96515833
44	CTCF	chr8:96515695-96515954	Gliobla	brain:	n/a	chr8:96515820-96515833
45	CTCF	chr8:96515720-96515870	WI-38	lung:	n/a	chr8:96515820-96515833
46	CTCF	chr8:96515653-96515968	H1-hESC	embryonic stem cell:	n/a	chr8:96515820-96515833
47	RAD21	chr8:96515709-96515865	K562	blood:	n/a	chr8:96515798-96515810
48	CTCF	chr8:96515700-96515850	GM12870	blood:	n/a	chr8:96515820-96515833
49	CTCF	chr8:96515700-96515850	HA-sp	spinal cord:	n/a	chr8:96515820-96515833
50	CTCF	chr8:96515692-96515957	K562	blood:	n/a	chr8:96515820-96515833

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:96515360..96516198-chr8:96770656..96771587,2	MCF-7	breast:
2	chr13:83085927..83086427-chr8:96515336..96516158,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253872	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10091727	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1039393	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11783284	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16917750	0.92[ASN][1000 genomes]
rs16917769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1909881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2202057	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4320522	0.91[ASN][1000 genomes]
rs4410876	0.96[ASN][1000 genomes]
rs55736309	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55786995	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56157129	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58648714	0.93[ASN][1000 genomes]
rs6984692	0.98[ASN][1000 genomes]
rs6993445	0.99[ASN][1000 genomes]
rs9297960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026549	chr8:96367183-96573134	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539681	chr8:96367183-96573134	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030659	chr8:96380353-97142611	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv611760	chr8:96428448-96607028	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv428823	chr8:96447739-96598307	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv465743	chr8:96472423-96518204	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv611762	chr8:96472423-96518204	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1798999	chr8:96498811-96518612	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1793606	chr8:96500286-96518673	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96514800-96515800	Weak transcription	HUVEC	blood vessel
2	chr8:96515400-96515800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr8:96515400-96515800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:96515400-96515800	Enhancers	HSMMtube	muscle
5	chr8:96515400-96516000	Enhancers	Colon Smooth Muscle	Colon
6	chr8:96515400-96516200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:96515400-96516200	Enhancers	HSMM	muscle
8	chr8:96515600-96515800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:96515600-96515800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr8:96515600-96515800	Enhancers	Osteobl	bone
11	chr8:96515600-96516000	Enhancers	Stomach Smooth Muscle	stomach
12	chr8:96515600-96516200	Enhancers	Fetal Stomach	stomach
13	chr8:96515600-96516400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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