Variant report

Variant	rs12086225
Chromosome Location	chr1:178984789-178984790
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:178977019..178978702-chr1:178984062..178987860,3	K562	blood:
2	chr1:178978287..178981942-chr1:178982197..178988679,6	K562	blood:
3	chr1:178979785..178981942-chr1:178983318..178985358,3	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10157463	0.97[ASN][1000 genomes]
rs10913675	0.95[ASN][1000 genomes]
rs10913687	0.95[ASN][1000 genomes]
rs11808217	0.97[ASN][1000 genomes]
rs12066589	0.95[ASN][1000 genomes]
rs12067262	0.95[ASN][1000 genomes]
rs12071751	0.97[ASN][1000 genomes]
rs12075028	0.92[ASN][1000 genomes]
rs12076957	0.95[ASN][1000 genomes]
rs12079974	0.97[ASN][1000 genomes]
rs12083856	0.97[ASN][1000 genomes]
rs12089188	0.95[ASN][1000 genomes]
rs12091355	0.97[ASN][1000 genomes]
rs16853551	0.97[ASN][1000 genomes]
rs16853619	0.95[ASN][1000 genomes]
rs2274228	0.81[ASN][1000 genomes]
rs3766631	0.95[ASN][1000 genomes]
rs3766633	0.97[ASN][1000 genomes]
rs3766634	0.97[ASN][1000 genomes]
rs45499094	0.81[ASN][1000 genomes]
rs57215421	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58726191	0.95[ASN][1000 genomes]
rs7516491	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519023	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7552470	0.97[ASN][1000 genomes]
rs9725888	0.92[ASN][1000 genomes]
rs9726948	0.95[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	nsv548275	chr1:178978409-178985658	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:178972400-178986000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:178977000-178985400	Weak transcription	A549	lung
3	chr1:178977000-178985600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:178978200-178986000	Weak transcription	HepG2	liver
5	chr1:178978600-178986000	Weak transcription	Right Atrium	heart
6	chr1:178978600-178991000	Weak transcription	Aorta	Aorta
7	chr1:178978600-178991200	Weak transcription	Psoas Muscle	Psoas
8	chr1:178980400-178985600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:178981600-178985400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr1:178981600-178985400	Weak transcription	Stomach Mucosa	stomach
11	chr1:178981800-178985000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr1:178981800-178985600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:178981800-178985600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:178981800-178985600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:178981800-178985600	Weak transcription	Fetal Intestine Small	intestine
16	chr1:178981800-178986000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:178982200-178985600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:178983200-178985600	Enhancers	K562	blood
19	chr1:178983800-178986000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr1:178984000-178985600	Weak transcription	Adipose Nuclei	Adipose
21	chr1:178984200-178985600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:178984200-178985600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr1:178984600-178986600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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