Variant report

Variant	rs959157
Chromosome Location	chr2:178935652-178935653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178934356..178936456-chr2:179417127..179418784,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12463866	0.92[CEU][hapmap]
rs12469439	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1369519	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1405643	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1405644	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1405646	0.92[CEU][hapmap];0.91[CHD][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1435575	0.92[CEU][hapmap]
rs1534290	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16865995	0.96[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16866042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1880915	0.92[CEU][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs2037757	0.92[CEU][hapmap];0.86[CHD][hapmap];1.00[MEX][hapmap]
rs2099476	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2695094	0.85[CEU][hapmap]
rs2695104	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2695111	0.81[CEU][hapmap]
rs2695112	0.89[CEU][hapmap];0.89[CHD][hapmap];0.92[MEX][hapmap]
rs2695729	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2695735	0.81[CEU][hapmap];0.86[CHD][hapmap];0.92[MEX][hapmap]
rs2695738	0.89[CEU][hapmap]
rs3108453	0.89[CEU][hapmap]
rs3108476	0.92[CEU][hapmap]
rs4893847	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62185280	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433705	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6743194	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7573622	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178931600-178937000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:178932000-178936600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:178934200-178937000	Enhancers	Liver	Liver
4	chr2:178934400-178935800	Enhancers	HepG2	liver
5	chr2:178934400-178936200	Weak transcription	Pancreas	Pancrea
6	chr2:178934800-178935800	Weak transcription	Fetal Intestine Large	intestine
7	chr2:178935400-178935800	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr2:178935600-178935800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:178935600-178935800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:178935600-178935800	Active TSS	A549	lung
11	chr2:178935600-178936200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:178935600-178936600	Enhancers	Duodenum Mucosa	Duodenum
13	chr2:178935600-178937000	Enhancers	Fetal Intestine Small	intestine
14	chr2:178935600-178937000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:178935600-178937000	Weak transcription	Stomach Mucosa	stomach
16	chr2:178935600-178937400	Flanking Active TSS	K562	blood

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