Variant report

Variant	rs11609950
Chromosome Location	chr12:47330015-47330016
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:47324260..47326005-chr12:47328595..47330791,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10785646	0.94[EUR][1000 genomes]
rs10881009	0.83[EUR][1000 genomes]
rs10881011	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10881013	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183661	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183665	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11183666	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11183671	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11183672	0.94[EUR][1000 genomes]
rs12229470	0.82[EUR][1000 genomes]
rs12423364	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1986584	0.83[EUR][1000 genomes]
rs2253630	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2465221	0.83[EUR][1000 genomes]
rs2465222	0.83[EUR][1000 genomes]
rs2465223	0.83[EUR][1000 genomes]
rs2465227	0.83[EUR][1000 genomes]
rs2465228	0.83[EUR][1000 genomes]
rs2465229	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465230	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465232	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465597	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2465617	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2465627	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2465628	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2465630	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4405401	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4586261	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6582686	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7137808	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7138703	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7295618	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7963326	0.83[EUR][1000 genomes]
rs7966987	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7975211	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47328000-47331600	Enhancers	Liver	Liver
2	chr12:47328200-47332000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:47328400-47331600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:47328400-47331800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr12:47330000-47330200	Enhancers	HepG2	liver

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