Variant report

Variant	rs12294052
Chromosome Location	chr11:10299571-10299572
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10128609	1.00[EUR][1000 genomes]
rs10128701	1.00[EUR][1000 genomes]
rs11042616	1.00[EUR][1000 genomes]
rs11042619	1.00[EUR][1000 genomes]
rs11042631	1.00[EUR][1000 genomes]
rs11042672	1.00[EUR][1000 genomes]
rs11042674	1.00[EUR][1000 genomes]
rs11042691	1.00[EUR][1000 genomes]
rs11042694	1.00[EUR][1000 genomes]
rs11042696	1.00[EUR][1000 genomes]
rs11042697	1.00[EUR][1000 genomes]
rs11042698	1.00[EUR][1000 genomes]
rs11042701	1.00[EUR][1000 genomes]
rs11042705	1.00[EUR][1000 genomes]
rs11042706	1.00[EUR][1000 genomes]
rs11042707	1.00[EUR][1000 genomes]
rs11042708	1.00[EUR][1000 genomes]
rs11042709	1.00[EUR][1000 genomes]
rs11042710	1.00[EUR][1000 genomes]
rs11042711	1.00[EUR][1000 genomes]
rs11042715	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042722	1.00[EUR][1000 genomes]
rs12269976	1.00[EUR][1000 genomes]
rs12270278	1.00[EUR][1000 genomes]
rs12270822	1.00[EUR][1000 genomes]
rs12271159	1.00[EUR][1000 genomes]
rs12271480	1.00[EUR][1000 genomes]
rs12272306	1.00[EUR][1000 genomes]
rs12273035	1.00[EUR][1000 genomes]
rs12274021	1.00[EUR][1000 genomes]
rs12277936	1.00[EUR][1000 genomes]
rs12279727	1.00[EUR][1000 genomes]
rs12279936	1.00[EUR][1000 genomes]
rs12280877	1.00[EUR][1000 genomes]
rs12282728	1.00[EUR][1000 genomes]
rs12285084	1.00[EUR][1000 genomes]
rs12287964	1.00[EUR][1000 genomes]
rs12288833	1.00[EUR][1000 genomes]
rs12291188	1.00[EUR][1000 genomes]
rs12291783	1.00[EUR][1000 genomes]
rs12292901	1.00[EUR][1000 genomes]
rs12294064	1.00[EUR][1000 genomes]
rs1372812	1.00[EUR][1000 genomes]
rs16907612	1.00[EUR][1000 genomes]
rs16907632	1.00[EUR][1000 genomes]
rs4537746	1.00[EUR][1000 genomes]
rs5005	1.00[EUR][1000 genomes]
rs55919524	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56948226	1.00[EUR][1000 genomes]
rs57138875	1.00[EUR][1000 genomes]
rs57672320	1.00[EUR][1000 genomes]
rs58354844	1.00[EUR][1000 genomes]
rs59629505	1.00[EUR][1000 genomes]
rs59651099	1.00[EUR][1000 genomes]
rs59709366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59928017	1.00[EUR][1000 genomes]
rs60051250	1.00[EUR][1000 genomes]
rs7942109	1.00[EUR][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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 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	chr11:10268600-10300000	Weak transcription	Fetal Intestine Small	intestine
2	chr11:10278200-10309200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr11:10279000-10311400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr11:10285400-10303400	Weak transcription	Fetal Intestine Large	intestine
5	chr11:10287600-10306200	Weak transcription	Psoas Muscle	Psoas
6	chr11:10290000-10313400	Weak transcription	Fetal Brain Male	brain
7	chr11:10290800-10309000	Weak transcription	HSMMtube	muscle
8	chr11:10291200-10313600	Weak transcription	NHEK	skin
9	chr11:10291200-10314400	Weak transcription	HSMM	muscle
10	chr11:10291400-10309000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:10294200-10309600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:10294200-10311400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:10295600-10299800	Weak transcription	Ovary	ovary
14	chr11:10295600-10306600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:10295600-10307000	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:10295800-10304200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:10296800-10306600	Weak transcription	NHDF-Ad	bronchial
18	chr11:10297000-10306200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:10297000-10309600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr11:10297800-10303200	Weak transcription	Hela-S3	cervix
21	chr11:10297800-10309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:10298200-10306000	Weak transcription	A549	lung
23	chr11:10298200-10307000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:10298200-10313400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:10298400-10306200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:10299000-10299600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:10299200-10299600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:10299200-10299800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr11:10299200-10299800	Enhancers	Brain Substantia Nigra	brain
30	chr11:10299200-10304600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:10299400-10299600	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr11:10299400-10299800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:10299400-10308600	Weak transcription	NHLF	lung
34	chr11:10299400-10314800	Weak transcription	Small Intestine	intestine

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