Variant report

Variant	rs12048595
Chromosome Location	chr1:76027587-76027588
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	chr1:76026343..76028341-chr1:76031572..76034136,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10453873	0.85[EUR][1000 genomes]
rs10489587	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap]
rs10874311	0.94[JPT][hapmap]
rs10874366	1.00[CEU][hapmap]
rs10874383	0.87[EUR][1000 genomes]
rs10874394	0.84[EUR][1000 genomes]
rs11163751	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11163762	0.90[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap]
rs12022154	0.93[JPT][hapmap]
rs1249784	0.81[JPT][hapmap]
rs12738260	0.84[GIH][hapmap];0.94[JPT][hapmap]
rs12746880	0.89[EUR][1000 genomes]
rs1591121	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1889036	0.83[JPT][hapmap]
rs1953077	0.85[CHD][hapmap]
rs2026445	0.82[CHB][hapmap]
rs2065481	0.84[EUR][1000 genomes]
rs211699	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs211700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs211745	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs211757	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs211764	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4141466	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4625236	0.85[EUR][1000 genomes]
rs4949865	0.90[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.94[JPT][hapmap];0.95[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4949866	0.84[EUR][1000 genomes]
rs6593577	0.88[JPT][hapmap]
rs6670304	0.82[CHB][hapmap];0.86[CHD][hapmap]
rs910567	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830270	chr1:76002220-76033156	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76026800-76027600	Enhancers	Pancreatic Islets	Pancreatic Islet

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