Variant report

Variant	rs6797991
Chromosome Location	chr3:86971676-86971677
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11127967	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11708953	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11720259	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12496631	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12497862	0.80[EUR][1000 genomes]
rs12633088	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13064692	0.80[EUR][1000 genomes]
rs13073131	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13074417	0.90[EUR][1000 genomes]
rs13092422	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1347611	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1370032	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1370033	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1370034	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1370035	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1370036	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1370037	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1370038	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1473272	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1473273	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2028090	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34506181	0.91[EUR][1000 genomes]
rs4295171	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4859048	0.84[EUR][1000 genomes]
rs4859060	0.86[EUR][1000 genomes]
rs4859084	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6419886	0.86[EUR][1000 genomes]
rs6419887	0.86[EUR][1000 genomes]
rs6419888	0.86[EUR][1000 genomes]
rs6551477	0.86[EUR][1000 genomes]
rs6551498	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6551499	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6774777	0.85[EUR][1000 genomes]
rs6776393	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6781697	0.90[EUR][1000 genomes]
rs6791881	0.86[EUR][1000 genomes]
rs6794181	0.85[EUR][1000 genomes]
rs6803815	0.90[EUR][1000 genomes]
rs7614681	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7623510	0.80[EUR][1000 genomes]
rs7623702	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7630422	0.80[EUR][1000 genomes]
rs7635070	0.86[EUR][1000 genomes]
rs7643213	0.80[EUR][1000 genomes]
rs7643907	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7649306	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7649317	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9809980	0.80[EUR][1000 genomes]
rs9833690	0.80[EUR][1000 genomes]
rs9837981	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9845020	0.80[EUR][1000 genomes]
rs9847167	0.80[EUR][1000 genomes]
rs9869786	0.83[EUR][1000 genomes]
rs9871001	0.91[EUR][1000 genomes]
rs9881446	0.85[EUR][1000 genomes]
rs9882146	0.80[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519148	chr3:86831077-86995124	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv534036	chr3:86967129-87283600	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:86970400-86972400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:86970600-86972400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:86970600-86973600	Enhancers	Osteobl	bone
4	chr3:86970800-86972000	Enhancers	HSMM	muscle
5	chr3:86970800-86972200	Enhancers	NHDF-Ad	bronchial
6	chr3:86970800-86973400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:86970800-86973400	Enhancers	HMEC	breast
8	chr3:86970800-86973600	Enhancers	HSMMtube	muscle
9	chr3:86970800-86973600	Enhancers	NHLF	lung
10	chr3:86970800-86973800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr3:86971000-86972000	Enhancers	Muscle Satellite Cultured Cells	--
12	chr3:86971000-86972600	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr3:86971000-86972800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:86971000-86973400	Enhancers	NHEK	skin
15	chr3:86971200-86972400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:86971200-86973600	Enhancers	Hela-S3	cervix
17	chr3:86971400-86972200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:86971400-86972600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr3:86971400-86972800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:86971400-86973800	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:86971600-86971800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:86971600-86972800	Enhancers	Fetal Muscle Leg	muscle
23	chr3:86971600-86972800	Enhancers	Placenta	Placenta
24	chr3:86971600-86973400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr3:86971600-86973800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:86971600-86974200	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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