Variant report

Variant	rs73181944
Chromosome Location	chr12:104770654-104770655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10735395	1.00[AFR][1000 genomes]
rs10861204	1.00[AFR][1000 genomes]
rs11111919	1.00[AFR][1000 genomes]
rs11111943	1.00[AFR][1000 genomes]
rs17035521	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17202862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935020	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3935021	0.89[EUR][1000 genomes]
rs4246264	1.00[AFR][1000 genomes]
rs4246271	1.00[AFR][1000 genomes]
rs4545635	1.00[AFR][1000 genomes]
rs4630362	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs4964227	1.00[AFR][1000 genomes]
rs4964228	1.00[AFR][1000 genomes]
rs4964257	1.00[AFR][1000 genomes]
rs4964260	1.00[AFR][1000 genomes]
rs4964288	1.00[AFR][1000 genomes]
rs4964732	1.00[AFR][1000 genomes]
rs4964784	1.00[AFR][1000 genomes]
rs6539131	1.00[AFR][1000 genomes]
rs6539137	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs7138317	1.00[AFR][1000 genomes]
rs7299669	1.00[AFR][1000 genomes]
rs73181916	1.00[AFR][1000 genomes]
rs73181919	1.00[AFR][1000 genomes]
rs73181926	1.00[AFR][1000 genomes]
rs73183722	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7969604	1.00[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs9738614	1.00[AFR][1000 genomes]
rs9739826	1.00[AFR][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	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104766000-104778200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104766200-104770800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:104766400-104775400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr12:104766600-104771200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:104766800-104774800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:104767200-104775600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:104767200-104776000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:104768600-104771000	Weak transcription	Placenta	Placenta
9	chr12:104768800-104775400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104769200-104775400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:104770200-104771400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:104770200-104771600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:104770400-104770800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:104770400-104770800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:104770400-104770800	Enhancers	Osteobl	bone
16	chr12:104770400-104771200	Enhancers	HSMM	muscle
17	chr12:104770400-104771400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr12:104770400-104771400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104770400-104771400	Enhancers	Muscle Satellite Cultured Cells	--
20	chr12:104770400-104771400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr12:104770400-104771400	Enhancers	NHDF-Ad	bronchial
22	chr12:104770400-104771400	Enhancers	NHEK	skin
23	chr12:104770600-104770800	Enhancers	A549	lung
24	chr12:104770600-104771000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:104770600-104771000	Enhancers	Hela-S3	cervix
26	chr12:104770600-104771200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:104770600-104771200	Enhancers	NH-A	brain
28	chr12:104770600-104771200	Enhancers	NHLF	lung
29	chr12:104770600-104771400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:104770600-104771400	Enhancers	HMEC	breast

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