Variant report

Variant	rs4964366
Chromosome Location	chr12:105787700-105787701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160903	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10861419	0.92[ASN][1000 genomes]
rs10861420	0.94[ASN][1000 genomes]
rs10861421	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10861423	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820715	0.94[ASN][1000 genomes]
rs12820743	0.94[ASN][1000 genomes]
rs1368253	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1368254	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534253	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4399405	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964365	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61939084	0.94[ASN][1000 genomes]
rs7132611	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4964366	C12orf42	cis	cerebellum	SCAN

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
2	chr12:105777200-105793400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:105777400-105793200	Weak transcription	Aorta	Aorta
4	chr12:105783600-105793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:105783600-105793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:105785800-105788200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:105787000-105788000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:105787000-105788000	Enhancers	HUVEC	blood vessel
9	chr12:105787200-105787800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:105787200-105787800	Enhancers	NHDF-Ad	bronchial
11	chr12:105787200-105788000	Enhancers	Fetal Heart	heart
12	chr12:105787200-105788200	Enhancers	Adipose Nuclei	Adipose
13	chr12:105787400-105787800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr12:105787400-105787800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:105787400-105787800	Enhancers	Right Atrium	heart
16	chr12:105787400-105788000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:105787400-105788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr12:105787400-105788000	Enhancers	Muscle Satellite Cultured Cells	--
19	chr12:105787400-105788000	Enhancers	HSMM	muscle
20	chr12:105787400-105788000	Enhancers	Osteobl	bone
21	chr12:105787600-105787800	Enhancers	Left Ventricle	heart
22	chr12:105787600-105788000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:105787600-105788000	Enhancers	Fetal Kidney	kidney
24	chr12:105787600-105788000	Enhancers	NHLF	lung
25	chr12:105787600-105788200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:105787600-105788600	Enhancers	HSMMtube	muscle
27	chr12:105787600-105793000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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