Variant report

Variant	rs1527291
Chromosome Location	chr2:178745569-178745570
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10164920	1.00[JPT][hapmap]
rs10165089	1.00[JPT][hapmap]
rs10168605	1.00[JPT][hapmap]
rs10170290	1.00[JPT][hapmap]
rs10170607	1.00[JPT][hapmap]
rs10170914	1.00[CEU][hapmap]
rs10171486	1.00[JPT][hapmap]
rs10174604	1.00[JPT][hapmap]
rs10181377	1.00[JPT][hapmap]
rs10183144	1.00[JPT][hapmap]
rs10186239	1.00[JPT][hapmap]
rs10190066	1.00[JPT][hapmap]
rs10190805	1.00[JPT][hapmap]
rs10191328	1.00[JPT][hapmap]
rs10193299	1.00[JPT][hapmap]
rs10194612	1.00[JPT][hapmap]
rs10198681	1.00[JPT][hapmap]
rs10198877	1.00[JPT][hapmap]
rs10208501	1.00[JPT][hapmap]
rs10211341	1.00[JPT][hapmap]
rs10221783	1.00[JPT][hapmap]
rs10497483	1.00[JPT][hapmap]
rs10930817	1.00[JPT][hapmap]
rs12151755	1.00[JPT][hapmap]
rs12693128	1.00[JPT][hapmap]
rs12693133	1.00[JPT][hapmap]
rs12995449	1.00[JPT][hapmap]
rs13003683	1.00[JPT][hapmap]
rs13008170	1.00[JPT][hapmap]
rs13008780	1.00[JPT][hapmap]
rs13009350	1.00[JPT][hapmap]
rs13015148	1.00[JPT][hapmap]
rs13386418	1.00[JPT][hapmap]
rs13400109	1.00[JPT][hapmap]
rs13400411	1.00[JPT][hapmap]
rs13410185	1.00[JPT][hapmap]
rs13411527	1.00[JPT][hapmap]
rs13411542	1.00[JPT][hapmap]
rs13411922	1.00[JPT][hapmap]
rs13411970	1.00[JPT][hapmap]
rs13412181	1.00[CEU][hapmap]
rs13413095	1.00[JPT][hapmap]
rs13413731	1.00[JPT][hapmap]
rs13419437	1.00[JPT][hapmap]
rs13422276	1.00[JPT][hapmap]
rs13425873	1.00[JPT][hapmap]
rs13428032	1.00[JPT][hapmap]
rs1347440	1.00[AMR][1000 genomes]
rs16823484	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865786	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16865818	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16865846	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865903	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16865998	1.00[AMR][1000 genomes]
rs16865999	1.00[AMR][1000 genomes]
rs16866003	1.00[AMR][1000 genomes]
rs16866031	0.85[AMR][1000 genomes]
rs16866034	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs16866043	1.00[AMR][1000 genomes]
rs16866058	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17329742	1.00[JPT][hapmap]
rs17329956	1.00[JPT][hapmap]
rs17401468	1.00[JPT][hapmap]
rs17401650	1.00[JPT][hapmap]
rs17401671	1.00[JPT][hapmap]
rs1898012	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2015183	1.00[CEU][hapmap]
rs3770053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3821011	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41357848	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs4377360	1.00[JPT][hapmap]
rs4423634	1.00[JPT][hapmap]
rs58297855	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6708449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6733229	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6750238	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7561059	1.00[JPT][hapmap]
rs9288011	1.00[JPT][hapmap]
rs9646795	1.00[CEU][hapmap]

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	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178741000-178759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:178741600-178748000	Enhancers	Liver	Liver
3	chr2:178743400-178746200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:178744800-178745600	Enhancers	HepG2	liver
5	chr2:178744800-178746000	ZNF genes & repeats	Fetal Intestine Small	intestine
6	chr2:178745200-178746200	Weak transcription	Psoas Muscle	Psoas
7	chr2:178745200-178750000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:178745400-178745800	Enhancers	Fetal Intestine Large	intestine

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