Variant report

Variant	rs2253630
Chromosome Location	chr12:47353423-47353424
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10785646	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10881011	0.87[EUR][1000 genomes]
rs10881013	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183661	0.82[EUR][1000 genomes]
rs11183665	0.86[EUR][1000 genomes]
rs11183666	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11183671	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11183672	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11609950	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12423364	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2250595	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2465627	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2465630	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4405401	0.82[EUR][1000 genomes]
rs4586261	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6582686	0.84[EUR][1000 genomes]
rs7138703	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7295618	0.85[EUR][1000 genomes]
rs7962539	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7966987	0.87[EUR][1000 genomes]
rs7975211	0.83[EUR][1000 genomes]
rs7978950	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr12:47350800-47357400	Weak transcription	Left Ventricle	heart
2	chr12:47351800-47354000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr12:47352000-47355000	Enhancers	Hela-S3	cervix
4	chr12:47352200-47354000	Enhancers	A549	lung
5	chr12:47352400-47354000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:47352600-47353600	Enhancers	Fetal Muscle Leg	muscle
7	chr12:47352600-47353600	Enhancers	HMEC	breast
8	chr12:47352600-47353600	Enhancers	NHEK	skin
9	chr12:47352600-47353800	Enhancers	NHDF-Ad	bronchial
10	chr12:47352600-47354400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:47352800-47353600	Enhancers	NH-A	brain
12	chr12:47352800-47353800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:47352800-47353800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:47352800-47353800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:47352800-47353800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:47352800-47353800	Enhancers	HUVEC	blood vessel
17	chr12:47352800-47353800	Enhancers	NHLF	lung
18	chr12:47352800-47354200	Enhancers	Osteobl	bone
19	chr12:47352800-47354400	Enhancers	HSMM	muscle
20	chr12:47352800-47354800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:47353000-47353600	Enhancers	H1 Cell Line	embryonic stem cell
22	chr12:47353000-47353600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr12:47353000-47354400	Weak transcription	Esophagus	oesophagus
24	chr12:47353200-47353600	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr12:47353200-47353600	Enhancers	Fetal Heart	heart
26	chr12:47353200-47354400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:47353200-47354600	Weak transcription	Psoas Muscle	Psoas
28	chr12:47353200-47354800	Enhancers	HSMMtube	muscle
29	chr12:47353400-47354000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:47353400-47354400	Enhancers	Liver	Liver
31	chr12:47353400-47357000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:47353400-47357600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:47353400-47357600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr12:47353400-47358000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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