Variant report

Variant	rs924822
Chromosome Location	chr12:67294461-67294462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10467150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10748061	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784594	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10878516	0.98[ASN][1000 genomes]
rs10878517	0.98[ASN][1000 genomes]
rs10878518	0.98[ASN][1000 genomes]
rs11176471	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176472	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11176477	0.98[ASN][1000 genomes]
rs11176478	0.98[ASN][1000 genomes]
rs11176481	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1252275	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12581142	0.90[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2047892	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2062861	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2870921	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3932223	0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs983665	0.80[EUR][1000 genomes];0.98[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:31 , 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	chr12:67293000-67295400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:67293000-67298800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:67293200-67296000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr12:67293200-67296200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr12:67293200-67296200	Weak transcription	HMEC	breast
9	chr12:67293200-67298000	Weak transcription	Colon Smooth Muscle	Colon
10	chr12:67293200-67298000	Weak transcription	Psoas Muscle	Psoas
11	chr12:67293400-67296000	Enhancers	Primary B cells from peripheral blood	blood
12	chr12:67293400-67296200	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr12:67293400-67304000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr12:67293600-67294600	Enhancers	GM12878-XiMat	blood
15	chr12:67293600-67295400	Enhancers	Brain Germinal Matrix	brain
16	chr12:67293600-67295600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:67293600-67296000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr12:67294200-67294600	Enhancers	Pancreas	Pancrea
19	chr12:67294200-67295400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:67294200-67295800	Enhancers	Primary B cells from cord blood	blood
21	chr12:67294200-67295800	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr12:67294200-67295800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:67294200-67296000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr12:67294400-67294600	Enhancers	H9 Cell Line	embryonic stem cell
25	chr12:67294400-67294600	Enhancers	Primary hematopoietic stem cells	blood
26	chr12:67294400-67294600	Enhancers	Fetal Lung	lung
27	chr12:67294400-67294600	Enhancers	Small Intestine	intestine
28	chr12:67294400-67295200	Enhancers	NHEK	skin
29	chr12:67294400-67295600	Enhancers	Fetal Kidney	kidney
30	chr12:67294400-67295800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr12:67294400-67295800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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