Variant report

Variant	rs16860794
Chromosome Location	chr2:173536519-173536520
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	chr2:173534977..173536584-chr2:173536820..173539280,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs12615889	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12622335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12622834	0.87[ASN][1000 genomes]
rs13384307	0.80[ASN][1000 genomes]
rs16860778	0.83[ASN][1000 genomes]
rs16860795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860796	0.87[ASN][1000 genomes]
rs16860798	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860805	0.94[EUR][1000 genomes]
rs16860809	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2034854	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2054162	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2054163	0.84[ASN][1000 genomes]
rs2084731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2084732	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2122832	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2198799	0.83[ASN][1000 genomes]
rs2198800	0.83[ASN][1000 genomes]
rs4313941	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4404239	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4482449	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4972514	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972515	0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972516	0.95[CHB][hapmap];0.84[JPT][hapmap];0.85[ASN][1000 genomes]
rs4972845	0.88[EUR][1000 genomes]
rs4972847	0.83[ASN][1000 genomes]
rs4972848	0.83[ASN][1000 genomes]
rs4972849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972850	1.00[CHB][hapmap];0.94[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972851	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972852	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57566649	0.80[ASN][1000 genomes]
rs58308687	0.83[ASN][1000 genomes]
rs59103702	0.87[ASN][1000 genomes]
rs59547791	0.83[ASN][1000 genomes]
rs59839960	0.83[ASN][1000 genomes]
rs61556691	0.85[ASN][1000 genomes]
rs6705827	0.81[ASN][1000 genomes]
rs6716527	0.86[ASN][1000 genomes]
rs73042937	0.82[ASN][1000 genomes]
rs733331	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7590282	0.86[ASN][1000 genomes]
rs7595971	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	esv2760591	chr2:173396905-173719520	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv583665	chr2:173460640-173643087	Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173521400-173536800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:173533000-173536800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr2:173533400-173536600	Weak transcription	Osteobl	bone
4	chr2:173533400-173537000	Weak transcription	NHLF	lung
5	chr2:173533400-173537600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:173535000-173537000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:173535800-173536800	Weak transcription	Duodenum Mucosa	Duodenum
8	chr2:173536400-173537400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:173536400-173537400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr2:173536400-173537800	Enhancers	Hela-S3	cervix
11	chr2:173536400-173538200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:173536400-173538200	Flanking Active TSS	A549	lung
13	chr2:173536400-173538200	Enhancers	HSMM	muscle
14	chr2:173536400-173538200	Enhancers	NHDF-Ad	bronchial
15	chr2:173536400-173538400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:173536400-173538400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:173536400-173538400	Enhancers	HUVEC	blood vessel
18	chr2:173536400-173538600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:173536400-173538600	Enhancers	NHEK	skin
20	chr2:173536400-173538800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:173536400-173539200	Enhancers	Fetal Intestine Large	intestine
22	chr2:173536400-173539600	Enhancers	Fetal Intestine Small	intestine

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