Variant report

Variant	rs12131462
Chromosome Location	chr1:103676710-103676711
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10157415	0.91[ASN][1000 genomes]
rs10493992	0.82[ASN][1000 genomes]
rs10493993	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10493996	0.81[AFR][1000 genomes]
rs10493997	0.81[AFR][1000 genomes]
rs10782923	0.82[ASN][1000 genomes]
rs10782924	0.82[ASN][1000 genomes]
rs10782925	0.82[ASN][1000 genomes]
rs10874697	0.82[ASN][1000 genomes]
rs11164722	0.82[ASN][1000 genomes]
rs11164732	0.82[ASN][1000 genomes]
rs11164734	0.86[ASN][1000 genomes]
rs12095253	0.82[ASN][1000 genomes]
rs12117001	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123238	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12125356	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12130012	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12135939	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1406126	0.82[ASN][1000 genomes]
rs1406137	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1528200	0.82[ASN][1000 genomes]
rs1528201	0.82[ASN][1000 genomes]
rs1528202	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1528203	0.82[ASN][1000 genomes]
rs1528205	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1881273	0.82[ASN][1000 genomes]
rs1918883	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1918884	0.82[ASN][1000 genomes]
rs1918885	0.82[ASN][1000 genomes]
rs1918886	0.82[ASN][1000 genomes]
rs1918889	0.82[ASN][1000 genomes]
rs2376353	0.82[ASN][1000 genomes]
rs2889352	0.82[ASN][1000 genomes]
rs4372278	0.82[ASN][1000 genomes]
rs4372279	0.82[ASN][1000 genomes]
rs55644203	0.97[ASN][1000 genomes]
rs61815054	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61815057	0.82[ASN][1000 genomes]
rs61815058	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61815060	0.81[AFR][1000 genomes]
rs61815063	0.81[AFR][1000 genomes]
rs61818479	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6577365	0.82[ASN][1000 genomes]
rs6656514	0.82[ASN][1000 genomes]
rs6667190	0.82[ASN][1000 genomes]
rs6667824	0.82[ASN][1000 genomes]
rs6670423	0.82[ASN][1000 genomes]
rs6696490	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7418839	0.82[ASN][1000 genomes]
rs954565	0.82[ASN][1000 genomes]
rs954566	0.82[ASN][1000 genomes]
rs9943066	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv931600	chr1:103548397-104161031	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv498007	chr1:103573857-104107589	Genic enhancers Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv526337	chr1:103636607-103704266	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv432554	chr1:103673437-104128773	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103676200-103676800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:103676400-103676800	Enhancers	Fetal Lung	lung
3	chr1:103676400-103676800	Flanking Active TSS	HSMMtube	muscle
4	chr1:103676400-103676800	Enhancers	Osteobl	bone
5	chr1:103676400-103677000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:103676400-103677000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:103676600-103677200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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