Variant report

Variant	rs397967
Chromosome Location	chr12:41408134-41408135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1083206	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11178929	0.87[ASN][1000 genomes]
rs11178961	0.87[ASN][1000 genomes]
rs11178966	1.00[ASN][1000 genomes]
rs11178968	0.87[ASN][1000 genomes]
rs11179174	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11179263	1.00[EUR][1000 genomes]
rs12296475	1.00[ASN][1000 genomes]
rs12307865	1.00[ASN][1000 genomes]
rs12314872	0.87[ASN][1000 genomes]
rs12316203	0.87[ASN][1000 genomes]
rs12321608	0.87[ASN][1000 genomes]
rs12809837	0.87[ASN][1000 genomes]
rs12811839	0.87[ASN][1000 genomes]
rs12824182	0.87[ASN][1000 genomes]
rs13328933	1.00[ASN][1000 genomes]
rs13377827	0.87[ASN][1000 genomes]
rs1442183	1.00[ASN][1000 genomes]
rs1442190	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[YRI][hapmap];1.00[EUR][1000 genomes]
rs157126	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1866996	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405509	0.87[ASN][1000 genomes]
rs278900	0.87[ASN][1000 genomes]
rs278901	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs278902	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs278903	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs278906	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs278914	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs280355	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs280356	0.87[ASN][1000 genomes]
rs280357	0.84[EUR][1000 genomes]
rs55653124	0.87[ASN][1000 genomes]
rs59142970	0.87[ASN][1000 genomes]
rs59599863	1.00[ASN][1000 genomes]
rs60409838	0.87[ASN][1000 genomes]
rs61443681	1.00[ASN][1000 genomes]
rs6582268	1.00[GIH][hapmap]
rs67249613	1.00[ASN][1000 genomes]
rs692211	0.81[AMR][1000 genomes]
rs693762	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7134389	1.00[ASN][1000 genomes]
rs7139018	1.00[ASN][1000 genomes]
rs7301266	1.00[ASN][1000 genomes]
rs7303815	0.87[ASN][1000 genomes]
rs7305416	0.87[ASN][1000 genomes]
rs7312528	1.00[ASN][1000 genomes]
rs7314325	0.87[ASN][1000 genomes]
rs73275677	1.00[ASN][1000 genomes]
rs73275694	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73277750	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 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	chr12:41405200-41429800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41405400-41417600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:41405600-41423000	Weak transcription	Ovary	ovary
4	chr12:41406600-41408400	Weak transcription	A549	lung
5	chr12:41406800-41409000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:41407000-41425200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:41407400-41408200	Enhancers	Fetal Stomach	stomach
8	chr12:41407400-41408600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr12:41407400-41408600	Enhancers	HSMMtube	muscle
10	chr12:41407400-41408800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:41407400-41408800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:41407400-41409000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:41407400-41409000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:41407400-41409000	Enhancers	NHEK	skin
15	chr12:41407400-41409200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:41407400-41409200	Enhancers	NH-A	brain
17	chr12:41407600-41408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr12:41407800-41408200	Enhancers	Brain Anterior Caudate	brain
19	chr12:41408000-41408200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:41408000-41408200	Flanking Active TSS	HUVEC	blood vessel
21	chr12:41408000-41408400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:41408000-41408600	Enhancers	Brain Germinal Matrix	brain
23	chr12:41408000-41408600	Enhancers	Fetal Brain Male	brain
24	chr12:41408000-41408600	Enhancers	Fetal Lung	lung
25	chr12:41408000-41413000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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