Variant report

Variant	rs2695109
Chromosome Location	chr2:178801750-178801751
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178800826..178803458-chr2:178806721..178809195,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10198111	0.86[JPT][hapmap]
rs11674668	0.93[JPT][hapmap]
rs11677176	0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11687117	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11695452	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13386827	1.00[CHB][hapmap];0.96[CHD][hapmap]
rs1347441	0.93[JPT][hapmap]
rs1438053	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1546813	0.94[GIH][hapmap];0.81[TSI][hapmap]
rs17329062	1.00[CHB][hapmap]
rs1852501	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1852502	0.97[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1852503	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1866213	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1880916	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2043547	0.85[JPT][hapmap]
rs2573079	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs2573087	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2695101	0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2695107	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695115	1.00[ASW][hapmap];0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];1.00[MKK][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs2695728	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695730	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2695731	0.87[JPT][hapmap]
rs2695737	0.93[ASW][hapmap];0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap]
rs2695739	0.93[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2695757	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap]
rs3910519	1.00[CHB][hapmap]
rs4324348	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55889420	0.90[ASN][1000 genomes]
rs55943462	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55962659	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62183411	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183412	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62183443	0.81[EUR][1000 genomes]
rs62183445	0.82[EUR][1000 genomes]
rs62184549	0.82[ASN][1000 genomes]
rs6433709	0.93[JPT][hapmap]
rs6705472	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6709256	0.93[JPT][hapmap]
rs6711886	0.83[ASN][1000 genomes]
rs6716496	0.81[ASN][1000 genomes]
rs6723691	0.93[ASN][1000 genomes]
rs6724505	1.00[CHB][hapmap]
rs6738831	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6758473	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6759109	0.80[CHB][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs744397	0.97[GIH][hapmap]
rs7570423	0.94[GIH][hapmap]
rs7588973	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7598623	0.93[JPT][hapmap]
rs7608073	0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533377	chr2:178718801-178963463	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1007579	chr2:178729330-178890946	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv875451	chr2:178748294-178953409	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv998304	chr2:178756380-178924378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv536056	chr2:178756380-178924378	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv3055	chr2:178800438-178819638	Enhancers Weak transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2695109	PRKRA	cis	parietal	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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