Variant report

Variant	rs12117439
Chromosome Location	chr1:184261349-184261350
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	chr1:184255720..184257876-chr1:184261050..184263922,2	K562	blood:
2	chr1:184259867..184262376-chr1:184264911..184267175,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1024298	0.94[EUR][1000 genomes]
rs1024299	0.94[EUR][1000 genomes]
rs1024300	0.94[EUR][1000 genomes]
rs10494577	0.83[EUR][1000 genomes]
rs10911541	0.83[EUR][1000 genomes]
rs10911556	1.00[CHD][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911557	0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911560	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12059311	1.00[ASN][1000 genomes]
rs12069709	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074351	0.89[CEU][hapmap];1.00[ASN][1000 genomes]
rs12079075	0.95[EUR][1000 genomes]
rs12079081	0.98[EUR][1000 genomes]
rs12083933	1.00[CHD][hapmap]
rs12096575	1.00[CHD][hapmap];0.96[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117567	0.88[EUR][1000 genomes]
rs12119073	0.83[EUR][1000 genomes]
rs12128914	0.84[TSI][hapmap]
rs12132917	0.81[EUR][1000 genomes]
rs12401350	0.84[EUR][1000 genomes]
rs12402670	0.83[EUR][1000 genomes]
rs12403673	0.96[EUR][1000 genomes]
rs12726204	1.00[CHD][hapmap]
rs12727053	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12727591	0.89[EUR][1000 genomes]
rs12728309	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12742417	0.82[EUR][1000 genomes]
rs12746499	1.00[CHD][hapmap]
rs12746749	0.83[EUR][1000 genomes]
rs1318406	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1854085	0.81[EUR][1000 genomes]
rs1930291	0.94[EUR][1000 genomes]
rs1930293	1.00[CHD][hapmap];0.84[TSI][hapmap]
rs2161986	0.94[EUR][1000 genomes]
rs2378840	0.83[EUR][1000 genomes]
rs34110117	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34782871	0.85[EUR][1000 genomes]
rs36020636	0.91[EUR][1000 genomes]
rs4263963	0.96[EUR][1000 genomes]
rs4618934	0.89[EUR][1000 genomes]
rs4651196	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57757593	0.94[EUR][1000 genomes]
rs66536948	1.00[ASN][1000 genomes]
rs6690614	0.83[EUR][1000 genomes]
rs7529843	0.93[EUR][1000 genomes]
rs890065	0.83[EUR][1000 genomes]
rs9645302	0.91[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs984419	0.94[EUR][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	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184255600-184266400	Weak transcription	Spleen	Spleen
2	chr1:184256000-184266000	Weak transcription	Right Atrium	heart
3	chr1:184258000-184261600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:184258600-184267400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:184258800-184265200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:184259600-184265600	Weak transcription	Gastric	stomach
7	chr1:184259600-184266400	Weak transcription	Pancreas	Pancrea
8	chr1:184261000-184261400	Enhancers	NHLF	lung
9	chr1:184261000-184261600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:184261000-184261600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:184261000-184261600	Enhancers	NHDF-Ad	bronchial

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