Variant report

Variant	rs3119331
Chromosome Location	chr1:186434518-186434519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10494583	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10494584	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs10911902	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs12120448	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12131484	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12133471	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12137128	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16825150	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16825185	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs16825243	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2272412	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2297226	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3131554	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3131556	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3736597	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3753565	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3766702	1.00[JPT][hapmap]
rs3766703	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3766704	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3766707	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3820181	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs3820182	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs55658718	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55660734	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61810323	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6425028	1.00[JPT][hapmap]
rs6658482	0.95[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6664763	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs6666680	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6678193	0.81[ASN][1000 genomes]
rs6689129	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7514615	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7515126	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525634	0.81[ASN][1000 genomes]
rs7556543	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	esv1822818	chr1:186301447-186441585	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
6	esv1824284	chr1:186358588-186441585	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186406600-186450000	Weak transcription	Brain Angular Gyrus	brain
2	chr1:186431800-186435000	Weak transcription	GM12878-XiMat	blood
3	chr1:186434400-186435200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:186434400-186435600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:186434400-186435600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:186434400-186435600	Enhancers	Osteobl	bone

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