Variant report

Variant	rs10497319
Chromosome Location	chr2:168037489-168037490
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12612401	0.85[CHB][hapmap];1.00[EUR][1000 genomes]
rs12613172	0.82[CHD][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs12619545	1.00[EUR][1000 genomes]
rs12620446	1.00[EUR][1000 genomes]
rs12621191	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622080	1.00[EUR][1000 genomes]
rs16853041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16853054	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853083	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16853193	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16853357	1.00[AFR][1000 genomes]
rs28562247	1.00[EUR][1000 genomes]
rs3749003	0.82[CHB][hapmap]
rs4613243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57654594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57732129	1.00[EUR][1000 genomes]
rs58783083	1.00[EUR][1000 genomes]
rs59091135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59955159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60956823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875376	chr2:167844513-168037489	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1002883	chr2:168023423-168072247	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv583589	chr2:168024328-168073830	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv583590	chr2:168024328-168075621	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv997489	chr2:168025002-168072247	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv1015022	chr2:168027758-168072247	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
7	nsv583591	chr2:168037489-168132892	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:168032600-168037600	Weak transcription	Gastric	stomach
2	chr2:168034400-168038600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:168036400-168039000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:168037200-168038000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:168037200-168038800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:168037200-168039000	Enhancers	NHEK	skin
7	chr2:168037200-168039200	Enhancers	HMEC	breast
8	chr2:168037200-168039200	Enhancers	NHLF	lung
9	chr2:168037400-168037800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
10	chr2:168037400-168038400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:168037400-168038400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr2:168037400-168038400	Enhancers	NHDF-Ad	bronchial
13	chr2:168037400-168038600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:168037400-168038800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:168037400-168038800	Enhancers	HSMM	muscle
16	chr2:168037400-168038800	Enhancers	NH-A	brain
17	chr2:168037400-168038800	Enhancers	Osteobl	bone

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