Variant report

Variant	rs2909067
Chromosome Location	chr12:22255576-22255577
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10492281	0.84[ASN][1000 genomes]
rs10770890	0.84[ASN][1000 genomes]
rs10770891	0.89[ASN][1000 genomes]
rs11046301	0.99[ASN][1000 genomes]
rs12303121	0.96[ASN][1000 genomes]
rs12306254	0.96[ASN][1000 genomes]
rs12829732	0.84[ASN][1000 genomes]
rs12831501	0.84[ASN][1000 genomes]
rs1861710	0.89[ASN][1000 genomes]
rs2080550	0.89[EUR][1000 genomes]
rs2080551	0.87[ASN][1000 genomes]
rs2080554	0.89[ASN][1000 genomes]
rs2193384	0.81[ASN][1000 genomes]
rs2193386	0.84[ASN][1000 genomes]
rs2193387	0.82[ASN][1000 genomes]
rs2900495	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970797	0.81[ASN][1000 genomes]
rs34299716	0.84[ASN][1000 genomes]
rs34533494	0.82[ASN][1000 genomes]
rs3937473	0.82[ASN][1000 genomes]
rs6487285	0.89[ASN][1000 genomes]
rs7296982	0.84[ASN][1000 genomes]
rs7300750	0.84[ASN][1000 genomes]
rs7304110	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304537	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7969364	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051073	chr12:21910875-22271209	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv2758298	chr12:22140834-22339299	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2759883	chr12:22140834-22736907	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv437729	chr12:22234058-22268523	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv437730	chr12:22242255-22257120	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:22253600-22255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:22253600-22255800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:22253600-22256800	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr12:22253800-22256400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:22254000-22255600	Enhancers	Brain Anterior Caudate	brain
6	chr12:22254000-22255800	Enhancers	Brain Hippocampus Middle	brain
7	chr12:22254000-22256600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:22254200-22255600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:22254200-22255600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:22254200-22255600	Enhancers	Brain Angular Gyrus	brain
11	chr12:22254200-22255600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr12:22254200-22255600	Enhancers	Fetal Thymus	thymus
13	chr12:22254200-22255800	Enhancers	Brain Cingulate Gyrus	brain
14	chr12:22254200-22255800	Enhancers	HMEC	breast
15	chr12:22254200-22255800	Enhancers	NHDF-Ad	bronchial
16	chr12:22254200-22256000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:22254200-22256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:22254200-22256400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:22254400-22255600	Enhancers	Brain Substantia Nigra	brain
20	chr12:22254400-22255600	Enhancers	Fetal Muscle Trunk	muscle
21	chr12:22254600-22255600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr12:22254600-22255600	Enhancers	HSMM	muscle
23	chr12:22254600-22255600	Enhancers	HSMMtube	muscle
24	chr12:22254600-22255800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr12:22254800-22255800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:22254800-22256600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:22255000-22255600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:22255200-22255600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr12:22255200-22255600	Bivalent Enhancer	Adipose Nuclei	Adipose
30	chr12:22255400-22255600	Enhancers	Right Ventricle	heart
31	chr12:22255400-22255600	Enhancers	Osteobl	bone
32	chr12:22255400-22255800	Enhancers	NHEK	skin
33	chr12:22255400-22258400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:22255400-22262200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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