Variant report

Variant	rs4972514
Chromosome Location	chr2:173541436-173541437
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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]
rs16860794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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[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	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]
rs4972515	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972516	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	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972851	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	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173537400-173542000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:173538200-173541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:173538400-173541800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:173538600-173541600	Weak transcription	NHEK	skin
5	chr2:173538800-173541600	Weak transcription	HMEC	breast
6	chr2:173539600-173554200	Weak transcription	Primary T cells from cord blood	blood
7	chr2:173539800-173542200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:173541000-173542000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:173541400-173542400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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