Variant report

Variant	rs216982
Chromosome Location	chr8:90629446-90629447
allele	A/G
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	chr8:90629400-90629550	HCFaa	heart:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
2	ZNF384	chr8:90629265-90629623	GM12878	blood:	n/a	n/a
3	CTCF	chr8:90629400-90629550	GM06990	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
4	CTCF	chr8:90629340-90629490	BE2_C	brain:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
5	CTCF	chr8:90629300-90629450	HEK293	kidney:	n/a	n/a
6	RAD21	chr8:90629283-90629598	K562	blood:	n/a	chr8:90629443-90629462
7	CTCF	chr8:90629360-90629510	AG04449	skin:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
8	EBF1	chr8:90629288-90629468	GM12878	blood:	n/a	n/a
9	CTCF	chr8:90629377-90629450	MCF-7	breast:	n/a	n/a
10	CTCF	chr8:90629346-90629587	GM10248	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
11	CTCF	chr8:90629402-90629516	GM20000	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
12	RAD21	chr8:90629194-90629602	H1-hESC	embryonic stem cell:	n/a	chr8:90629443-90629462
13	CTCF	chr8:90629037-90629880	A549	lung:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
14	CTCF	chr8:90629380-90629530	AG09309	skin:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
15	CTCF	chr8:90629400-90629550	GM12872	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
16	CTCF	chr8:90629121-90629740	HCT-116	colon:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
17	CTCF	chr8:90628993-90629806	HCT-116	colon:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
18	CTCF	chr8:90629266-90629650	K562	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
19	CTCF	chr8:90629380-90629530	HCT-116	colon:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
20	CTCF	chr8:90629347-90629580	LNCaP	prostate:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
21	CTCF	chr8:90629371-90629555	LNCaP	prostate:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
22	CTCF	chr8:90629360-90629510	SK-N-SH_RA	brain:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
23	CTCF	chr8:90629384-90629529	GM13976	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
24	ZNF384	chr8:90629253-90629612	K562	blood:	n/a	n/a
25	CTCF	chr8:90629360-90629510	GM12865	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
26	CTCF	chr8:90629380-90629530	BJ	skin:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
27	CBX3	chr8:90629083-90629708	HCT-116	colon:	n/a	n/a
28	SMC3	chr8:90627958-90629720	SK-N-SH	brain:	n/a	chr8:90629447-90629461
29	CTCF	chr8:90629345-90629547	Kidney_OC	kidney:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
30	CTCF	chr8:90629380-90629530	GM12872	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
31	CTCF	chr8:90629400-90629550	GM12873	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
32	SMC3	chr8:90629203-90629664	GM12878	blood:	n/a	chr8:90629447-90629461
33	CTCF	chr8:90629300-90629450	HepG2	liver:	n/a	n/a
34	CTCF	chr8:90629380-90629530	K562	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
35	CTCF	chr8:90629380-90629530	AG04449	skin:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
36	CTCF	chr8:90629299-90629566	Lung_OC	lung:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
37	CTCF	chr8:90629400-90629550	GM12874	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
38	BRCA1	chr8:90629299-90629540	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr8:90629340-90629490	HRPEpiC	eye:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
40	CTCF	chr8:90629360-90629510	GM12801	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
41	RAD21	chr8:90629117-90629730	MCF-7	breast:	n/a	chr8:90629443-90629462
42	CTCF	chr8:90629420-90629570	HRE	kidney:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
43	CTCF	chr8:90629360-90629510	GM12867	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
44	CTCF	chr8:90629380-90629530	Caco-2	colon:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
45	CTCF	chr8:90629340-90629490	AG09309	skin:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
46	RAD21	chr8:90629236-90629564	GM12878	blood:	n/a	chr8:90629443-90629462
47	E2F4	chr8:90629322-90629644	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr8:90629360-90629510	HUVEC	blood vessel:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
49	CTCF	chr8:90629380-90629530	GM12865	blood:	n/a	chr8:90629446-90629462 chr8:90629445-90629463 chr8:90629440-90629461
50	RAD21	chr8:90629172-90629603	SK-N-SH_RA	brain:	n/a	chr8:90629443-90629462

Variant related genes	Relation type
ENSG00000251136	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs216980	0.90[CEU][hapmap];0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs218922	0.95[CEU][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs311652	0.88[EUR][1000 genomes]
rs311655	0.90[EUR][1000 genomes]
rs7836023	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465735	chr8:89760311-90729507	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv611714	chr8:89760311-90729507	Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv1028969	chr8:90475194-90650295	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv427825	chr8:90495139-90653696	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv870380	chr8:90546585-90720182	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1028026	chr8:90553930-90678631	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv982109	chr8:90556188-90703631	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv1026523	chr8:90558935-90722580	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv831389	chr8:90575517-90753120	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv1017263	chr8:90605445-90722580	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
11	nsv524399	chr8:90627436-90635791	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:90599600-90650800	Weak transcription	Left Ventricle	heart
2	chr8:90616000-90630000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr8:90616000-90652600	Weak transcription	Ovary	ovary
4	chr8:90621200-90637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:90622400-90630800	Weak transcription	Fetal Muscle Leg	muscle
6	chr8:90624400-90640400	Weak transcription	Aorta	Aorta
7	chr8:90624600-90630200	Weak transcription	HSMMtube	muscle
8	chr8:90624600-90642800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:90626000-90649200	Weak transcription	Brain Angular Gyrus	brain
10	chr8:90629000-90630600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:90629400-90644600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:90629400-90659000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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