Variant report

Variant	rs6760112
Chromosome Location	chr2:86202212-86202213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86161457..86163174-chr2:86200236..86202844,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10184159	1.00[EUR][1000 genomes]
rs11894806	1.00[AMR][1000 genomes]
rs12124	0.80[ASN][1000 genomes]
rs2278532	1.00[EUR][1000 genomes]
rs2278533	0.89[EUR][1000 genomes]
rs2288116	1.00[EUR][1000 genomes]
rs2679723	0.89[CHB][hapmap]
rs34853189	1.00[AMR][1000 genomes]
rs3731822	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3755005	1.00[EUR][1000 genomes]
rs3770083	1.00[EUR][1000 genomes]
rs3770084	1.00[EUR][1000 genomes]
rs3770086	1.00[EUR][1000 genomes]
rs3770091	1.00[EUR][1000 genomes]
rs56861544	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57150140	1.00[EUR][1000 genomes]
rs57318396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57361751	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57405155	0.80[ASN][1000 genomes]
rs57963460	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58026145	1.00[EUR][1000 genomes]
rs58429119	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58468324	0.98[ASN][1000 genomes]
rs58861315	1.00[EUR][1000 genomes]
rs58913632	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58926604	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs59598725	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60336356	0.84[ASN][1000 genomes]
rs60471596	1.00[ASN][1000 genomes]
rs60497765	0.97[ASN][1000 genomes]
rs61094144	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61185790	1.00[EUR][1000 genomes]
rs61199255	0.85[ASN][1000 genomes]
rs61254540	1.00[EUR][1000 genomes]
rs61371265	1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6547652	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6755228	1.00[EUR][1000 genomes]
rs6759624	1.00[AMR][1000 genomes]
rs6760097	1.00[AMR][1000 genomes]
rs893443	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001104	chr2:86182021-86271923	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv535807	chr2:86182021-86271923	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6760112	POLR1A	cis	multi-tissue	Pritchard

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86198200-86202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:86199000-86202400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:86201800-86202600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:86201800-86203000	Enhancers	Lung	lung
5	chr2:86201800-86204000	Enhancers	Left Ventricle	heart
6	chr2:86201800-86204200	Enhancers	Fetal Muscle Leg	muscle
7	chr2:86202000-86202800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:86202000-86203200	Weak transcription	Fetal Lung	lung
9	chr2:86202000-86204000	Enhancers	Gastric	stomach
10	chr2:86202200-86205600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:86202200-86206400	Enhancers	Fetal Brain Male	brain

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