Variant report

Variant	rs1506369
Chromosome Location	chr12:30570934-30570935
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10771718	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771720	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10771724	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10843742	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10843752	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10843754	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050890	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050891	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11050908	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231562	0.91[ASN][1000 genomes]
rs1588005	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1605238	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931337	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1042998	chr12:30549221-30583230	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30567000-30572000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:30567000-30572200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:30567000-30572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:30567400-30574000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:30568800-30571000	Enhancers	Brain Germinal Matrix	brain
6	chr12:30569800-30571200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:30569800-30571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr12:30569800-30571600	Enhancers	HSMM	muscle
9	chr12:30569800-30572000	Enhancers	NH-A	brain
10	chr12:30570000-30571200	Enhancers	Hela-S3	cervix
11	chr12:30570000-30572400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:30570200-30571400	Weak transcription	NHLF	lung
13	chr12:30570400-30571000	Enhancers	HUVEC	blood vessel
14	chr12:30570400-30571200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
15	chr12:30570400-30571400	Enhancers	HSMMtube	muscle
16	chr12:30570600-30571000	Active TSS	NHDF-Ad	bronchial
17	chr12:30570600-30571200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:30570800-30571000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:30570800-30571200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:30570800-30571200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:30570800-30571200	Flanking Active TSS	HMEC	breast
22	chr12:30570800-30571200	Flanking Active TSS	NHEK	skin
23	chr12:30570800-30571200	Flanking Active TSS	Osteobl	bone

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