Variant report

Variant	rs744397
Chromosome Location	chr2:178859118-178859119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1020010	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10211367	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs10930820	0.81[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11677176	0.88[CEU][hapmap];0.82[GIH][hapmap];0.86[EUR][1000 genomes]
rs11687117	0.83[CEU][hapmap];0.84[EUR][1000 genomes]
rs11695452	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs12472886	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12473461	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12477170	0.83[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs12478277	0.83[ASW][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs12478848	0.94[JPT][hapmap]
rs12618606	1.00[JPT][hapmap];0.96[YRI][hapmap];0.84[ASN][1000 genomes]
rs12621562	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12990719	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs13030747	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13386827	0.81[TSI][hapmap]
rs1438053	0.83[CEU][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap]
rs1527286	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1527287	0.82[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1527293	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1527294	1.00[JPT][hapmap];0.95[YRI][hapmap]
rs1527295	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs1527296	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs1534289	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1546813	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1554776	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs16866000	0.81[MKK][hapmap];0.93[YRI][hapmap]
rs17636610	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs17687590	0.83[ASW][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs17687668	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1821629	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs1830209	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs1836672	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1852496	0.92[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs1852497	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs1852499	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1852501	0.86[EUR][1000 genomes]
rs1852502	0.94[CEU][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs1852503	0.83[CEU][hapmap]
rs1880916	0.82[CEU][hapmap];0.97[GIH][hapmap]
rs1982131	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1991994	0.87[ASN][1000 genomes]
rs2009303	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs2043547	1.00[YRI][hapmap]
rs2060490	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2060491	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2117738	0.83[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2117740	0.83[ASW][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2573079	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs2573087	0.84[EUR][1000 genomes]
rs2695101	0.82[CEU][hapmap]
rs2695107	0.81[EUR][1000 genomes]
rs2695109	0.97[GIH][hapmap]
rs2695115	0.83[CEU][hapmap];0.97[GIH][hapmap];0.92[TSI][hapmap]
rs2695728	0.84[EUR][1000 genomes]
rs2695730	0.82[CEU][hapmap]
rs2695737	0.97[GIH][hapmap]
rs2695739	0.81[EUR][1000 genomes]
rs2695757	0.83[CEU][hapmap];0.94[GIH][hapmap];0.89[TSI][hapmap]
rs4324348	0.83[CEU][hapmap]
rs4335982	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4567975	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4893844	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4893994	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4893995	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs62183411	0.84[EUR][1000 genomes]
rs62183412	0.84[EUR][1000 genomes]
rs62183413	0.90[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs62183443	0.85[EUR][1000 genomes]
rs62183445	0.86[EUR][1000 genomes]
rs6433710	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs6705472	0.83[CEU][hapmap]
rs6711886	0.83[EUR][1000 genomes]
rs6726809	0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs6738831	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs6750869	0.83[ASW][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6758442	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs6758473	0.82[CEU][hapmap]
rs6759109	0.84[EUR][1000 genomes]
rs744398	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7570423	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.92[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7588973	0.94[CEU][hapmap];0.86[EUR][1000 genomes]
rs7598623	0.88[CEU][hapmap]
rs764780	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs934568	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs9679090	0.88[ASW][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	nsv583738	chr2:178856430-178861725	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3458760	chr2:178857904-178859153	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3458761	chr2:178857904-178859153	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178854600-178861400	Weak transcription	A549	lung
2	chr2:178854800-178861400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:178854800-178862400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:178855000-178861200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:178859000-178859600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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