Variant report

Variant	rs2043547
Chromosome Location	chr2:178893117-178893118
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:178883949..178888103-chr2:178890487..178893161,3	K562	blood:

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10176475	0.82[CHB][hapmap]
rs10198111	0.94[CHB][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs1020010	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10211367	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10930820	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10930822	0.93[ASN][1000 genomes]
rs11674668	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs11677176	0.88[ASN][1000 genomes]
rs11687117	0.87[JPT][hapmap]
rs11695452	0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs11887974	0.83[CHB][hapmap]
rs11899905	0.83[CHB][hapmap]
rs12472886	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs12473461	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs12477170	0.85[CEU][hapmap];0.96[YRI][hapmap]
rs12478277	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12478848	0.84[CEU][hapmap]
rs12618606	0.85[CEU][hapmap];0.96[YRI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12621562	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13030747	0.87[AFR][1000 genomes]
rs1347441	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs1369515	0.83[CHB][hapmap]
rs1438053	0.85[JPT][hapmap]
rs1527286	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1527287	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1527293	0.89[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1527294	0.95[YRI][hapmap]
rs1527295	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs1527296	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs1534289	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs1546813	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1554776	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs16866000	0.92[YRI][hapmap]
rs17636610	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs17687590	0.88[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17687668	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1830209	0.88[CEU][hapmap];1.00[YRI][hapmap]
rs1836672	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs1852496	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1852497	0.96[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1852499	0.87[AFR][1000 genomes]
rs1852501	0.88[ASN][1000 genomes]
rs1852502	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs1852503	0.85[JPT][hapmap]
rs1880916	0.85[JPT][hapmap]
rs1982131	0.89[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1991994	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2009303	0.89[CEU][hapmap]
rs2060490	0.88[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2060491	0.89[AFR][1000 genomes]
rs2117738	0.88[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2117740	0.88[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2217838	0.83[CHB][hapmap]
rs2695109	0.85[JPT][hapmap]
rs2695115	0.85[JPT][hapmap]
rs2695730	0.86[JPT][hapmap]
rs2695731	0.81[JPT][hapmap]
rs2695737	0.85[JPT][hapmap]
rs4324348	0.86[JPT][hapmap]
rs4335982	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs4567975	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4893844	0.89[CEU][hapmap];1.00[YRI][hapmap]
rs4893994	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs4893995	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs62183413	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62183443	0.91[ASN][1000 genomes]
rs62183445	0.90[ASN][1000 genomes]
rs62185279	0.94[ASN][1000 genomes]
rs6433709	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs6705472	0.86[JPT][hapmap]
rs6709256	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6709343	0.83[CHB][hapmap]
rs6710329	0.82[CHB][hapmap]
rs6711886	0.88[ASN][1000 genomes]
rs6714047	0.83[CHB][hapmap]
rs6726809	0.83[CEU][hapmap];1.00[YRI][hapmap]
rs6738831	0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs6750869	0.88[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6758442	1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6758473	0.87[JPT][hapmap]
rs6759109	0.81[JPT][hapmap]
rs736842	0.83[CHB][hapmap]
rs744397	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs744398	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7570423	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs7583491	0.86[CHB][hapmap]
rs7588973	0.93[JPT][hapmap];0.88[ASN][1000 genomes]
rs7598623	0.93[JPT][hapmap]
rs7608073	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs764780	0.87[AFR][1000 genomes]
rs9288014	0.83[CHB][hapmap]
rs934568	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs9679090	1.00[YRI][hapmap];0.92[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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
3	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
4	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

No data

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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