Variant report

Variant	rs2695115
Chromosome Location	chr2:178783055-178783056
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10198111	0.86[JPT][hapmap]
rs11674668	0.93[JPT][hapmap]
rs11677176	0.82[CEU][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11687117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11695452	0.87[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs12473461	0.82[CEU][hapmap]
rs13386827	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.80[JPT][hapmap];0.89[TSI][hapmap]
rs1347441	0.93[JPT][hapmap]
rs1438053	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1438060	0.84[CEU][hapmap]
rs1438062	0.84[CEU][hapmap]
rs1438063	0.84[CEU][hapmap]
rs1546813	0.83[CEU][hapmap];0.94[GIH][hapmap];0.94[TSI][hapmap]
rs17329062	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs1852501	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1852502	0.88[CEU][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1852503	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs1866213	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1880916	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2043547	0.85[JPT][hapmap]
rs2365895	0.83[CEU][hapmap]
rs2573079	0.94[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes]
rs2573087	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2695101	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs2695107	0.86[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2695109	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	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2695730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2695731	0.87[JPT][hapmap]
rs2695737	0.93[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[MKK][hapmap];0.86[TSI][hapmap];0.85[YRI][hapmap]
rs2695739	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2695757	1.00[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];0.97[TSI][hapmap];1.00[YRI][hapmap]
rs2886499	0.84[CEU][hapmap]
rs2886500	0.89[CEU][hapmap]
rs3770048	0.84[CEU][hapmap]
rs3821010	0.84[CEU][hapmap]
rs3910519	0.94[CEU][hapmap];1.00[CHB][hapmap]
rs41440047	0.84[CEU][hapmap]
rs4324348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4413189	0.84[CEU][hapmap]
rs4446096	0.84[CEU][hapmap]
rs4522644	0.82[CEU][hapmap]
rs55889420	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55943462	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55962659	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62183411	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183412	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62183443	0.87[EUR][1000 genomes]
rs62183445	0.88[EUR][1000 genomes]
rs62184549	0.81[ASN][1000 genomes]
rs6433698	0.84[CEU][hapmap]
rs6433709	0.93[JPT][hapmap]
rs6705118	0.88[CEU][hapmap]
rs6705472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6709256	0.93[JPT][hapmap]
rs6711886	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6713981	0.83[CEU][hapmap]
rs6720891	0.84[CEU][hapmap]
rs6723691	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6724505	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap]
rs6738831	0.88[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes]
rs6758473	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6758543	0.89[CEU][hapmap]
rs6759109	0.80[CHB][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs744397	0.83[CEU][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap]
rs7557283	0.83[CEU][hapmap]
rs7568068	0.84[CEU][hapmap]
rs7570423	0.94[GIH][hapmap];0.88[TSI][hapmap]
rs7570898	0.89[CEU][hapmap]
rs7581861	0.84[CEU][hapmap]
rs7588973	0.88[CEU][hapmap];0.93[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7595951	0.82[CEU][hapmap]
rs7598623	0.82[CEU][hapmap];0.93[JPT][hapmap]
rs7608073	0.93[JPT][hapmap]
rs934802	0.84[CEU][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2695115	TTN	cis	parietal	SCAN
rs2695115	RBM45	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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