Variant report

Variant	rs1504314
Chromosome Location	chr12:67295672-67295673
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10506514	0.95[CHB][hapmap];0.95[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10506515	0.90[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10878520	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10878521	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10878522	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10878523	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs10878524	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs10878525	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10878526	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10878527	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10878528	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10878529	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10878530	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10878531	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10878532	0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10878533	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11176482	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11176483	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11176484	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12228305	0.95[CHB][hapmap];0.90[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12228327	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12228339	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12229513	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12579822	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12579830	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12580443	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12581024	0.94[ASN][1000 genomes]
rs12811743	0.94[ASN][1000 genomes]
rs12811914	0.94[ASN][1000 genomes]
rs1504315	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1995503	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1995504	0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2221396	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2904532	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs876419	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs876420	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040682	chr12:66750103-67328053	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1053250	chr12:67067995-67381411	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1050547	chr12:67122154-67314886	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv541521	chr12:67122154-67314886	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1037144	chr12:67203280-67325187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1044939	chr12:67207260-67377982	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1036984	chr12:67273098-67427543	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67292200-67296400	Enhancers	Primary T cells from cord blood	blood
2	chr12:67292600-67296000	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:67292800-67296200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr12:67293000-67298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:67293200-67296000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr12:67293200-67296200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:67293200-67296200	Weak transcription	HMEC	breast
8	chr12:67293200-67298000	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:67293200-67298000	Weak transcription	Psoas Muscle	Psoas
10	chr12:67293400-67296000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:67293400-67296200	Enhancers	Primary T helper cells PMA-I stimulated	--
12	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:67293600-67296000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:67294200-67295800	Enhancers	Primary B cells from cord blood	blood
15	chr12:67294200-67295800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr12:67294200-67295800	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr12:67294200-67296000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr12:67294400-67295800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr12:67294400-67295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr12:67294800-67295800	Weak transcription	Small Intestine	intestine
21	chr12:67295200-67295800	Enhancers	Duodenum Mucosa	Duodenum
22	chr12:67295200-67295800	Flanking Active TSS	GM12878-XiMat	blood
23	chr12:67295200-67295800	Weak transcription	NHEK	skin
24	chr12:67295400-67296000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:67295600-67295800	Enhancers	Primary hematopoietic stem cells	blood

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