Variant report

Variant	rs12495073
Chromosome Location	chr3:46053882-46053883
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	chr3:46034481..46038695-chr3:46049566..46055289,5	K562	blood:
2	chr3:46048434..46050837-chr3:46053075..46054735,2	K562	blood:

Variant related genes	Relation type
ENSG00000163820	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1072755	0.92[CEU][hapmap]
rs11130080	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11130085	0.84[ASN][1000 genomes]
rs11130086	0.84[ASN][1000 genomes]
rs11917890	0.84[ASN][1000 genomes]
rs11929281	0.84[ASN][1000 genomes]
rs12496322	0.84[ASN][1000 genomes]
rs12630101	0.92[CEU][hapmap]
rs12635657	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12637023	0.85[ASN][1000 genomes]
rs12639598	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs13059919	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13060901	0.96[ASN][1000 genomes]
rs13066048	0.92[CEU][hapmap]
rs13073861	0.85[CEU][hapmap];0.82[ASN][1000 genomes]
rs13077099	0.84[ASN][1000 genomes]
rs13077923	0.80[ASN][1000 genomes]
rs13078053	0.82[ASN][1000 genomes]
rs13098271	0.92[ASN][1000 genomes]
rs1392290	0.95[ASN][1000 genomes]
rs1500005	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552489	0.92[CEU][hapmap]
rs17078495	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17078577	0.85[ASN][1000 genomes]
rs2036292	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2054866	0.92[CEU][hapmap]
rs2131091	0.84[CEU][hapmap];0.80[ASN][1000 genomes]
rs2201984	0.92[ASN][1000 genomes]
rs2220678	0.80[ASN][1000 genomes]
rs2248228	0.96[CEU][hapmap]
rs2373154	0.92[CEU][hapmap]
rs28808964	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34067839	0.80[ASN][1000 genomes]
rs34381514	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34906043	0.92[ASN][1000 genomes]
rs35435608	0.92[ASN][1000 genomes]
rs35537559	0.86[ASN][1000 genomes]
rs35567508	0.82[ASN][1000 genomes]
rs35657218	0.92[ASN][1000 genomes]
rs35688834	0.86[ASN][1000 genomes]
rs36111470	0.80[ASN][1000 genomes]
rs3733097	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3733103	0.84[CEU][hapmap]
rs3774634	0.92[CEU][hapmap]
rs3774639	0.92[CEU][hapmap]
rs3796375	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs3851347	0.96[ASN][1000 genomes]
rs4234452	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4314213	0.87[ASN][1000 genomes]
rs4333119	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535265	0.92[CEU][hapmap]
rs4683147	0.83[CEU][hapmap]
rs4683148	0.88[CEU][hapmap]
rs4683157	0.92[CEU][hapmap]
rs4683168	0.92[ASN][1000 genomes]
rs4683175	0.85[ASN][1000 genomes]
rs4683178	0.84[ASN][1000 genomes]
rs56307311	0.80[ASN][1000 genomes]
rs59226168	0.86[ASN][1000 genomes]
rs60539039	0.96[ASN][1000 genomes]
rs62242796	0.86[ASN][1000 genomes]
rs67044455	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6764042	0.96[ASN][1000 genomes]
rs6778896	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs6794103	0.84[ASN][1000 genomes]
rs6805094	0.96[ASN][1000 genomes]
rs7129	0.84[CEU][hapmap]
rs730983	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs737452	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs751552	0.96[CEU][hapmap];0.82[AMR][1000 genomes]
rs751553	0.96[CEU][hapmap];0.81[AMR][1000 genomes]
rs7609756	0.86[ASN][1000 genomes]
rs7616464	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7623190	0.91[ASN][1000 genomes]
rs7623460	0.96[ASN][1000 genomes]
rs7631598	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7642701	0.92[ASN][1000 genomes]
rs931704	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs936938	0.92[CEU][hapmap]
rs9637425	0.86[ASN][1000 genomes]
rs9824886	0.83[ASN][1000 genomes]
rs9831315	0.89[CEU][hapmap]
rs9849015	0.94[ASN][1000 genomes]
rs9863204	0.85[ASN][1000 genomes]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2756987	chr3:46016464-46120400	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2759145	chr3:46016464-46120400	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv1805205	chr3:46032847-46111081	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3430613	chr3:46053340-46053932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46037600-46064600	Weak transcription	Gastric	stomach
2	chr3:46052600-46054000	Enhancers	Ovary	ovary

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