Variant report

Variant	rs11183944
Chromosome Location	chr12:47810742-47810743
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10431525	1.00[EUR][1000 genomes]
rs10881108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10881111	1.00[EUR][1000 genomes]
rs11168119	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	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47802200-47820000	Weak transcription	Aorta	Aorta
2	chr12:47808000-47818800	Weak transcription	Hela-S3	cervix
3	chr12:47808200-47812800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:47808200-47813000	Weak transcription	Osteobl	bone
5	chr12:47808600-47813000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr12:47808600-47816000	Weak transcription	Colon Smooth Muscle	Colon
7	chr12:47809200-47813000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:47809800-47813800	Enhancers	Fetal Brain Male	brain
9	chr12:47810200-47811400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:47810400-47812400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:47810600-47811400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:47810600-47812000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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