Variant report

Variant	rs1093308
Chromosome Location	chr12:117925511-117925512
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1068941	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1068942	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1093306	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1093307	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1093310	0.98[ASN][1000 genomes]
rs1093311	0.88[ASN][1000 genomes]
rs1093312	0.88[ASN][1000 genomes]
rs1103035	0.87[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	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117920800-117932800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:117923800-117925600	Enhancers	NHDF-Ad	bronchial
3	chr12:117924000-117925600	Enhancers	Hela-S3	cervix
4	chr12:117924000-117925800	Enhancers	HSMMtube	muscle
5	chr12:117924200-117925800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:117924400-117925600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:117924400-117925600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr12:117924400-117925600	Enhancers	Psoas Muscle	Psoas
9	chr12:117924400-117925600	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:117924400-117925600	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr12:117924400-117925800	Enhancers	HUVEC	blood vessel
12	chr12:117924600-117925600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:117924600-117925600	Enhancers	Gastric	stomach
14	chr12:117924600-117931400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:117924800-117925600	Enhancers	Liver	Liver
16	chr12:117925000-117925800	Enhancers	Osteobl	bone
17	chr12:117925200-117925600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:117925200-117925600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:117925200-117925600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:117925200-117925600	Enhancers	Pancreas	Pancrea
21	chr12:117925200-117925600	Flanking Active TSS	NH-A	brain
22	chr12:117925200-117925800	Flanking Active TSS	A549	lung
23	chr12:117925200-117925800	Enhancers	HSMM	muscle
24	chr12:117925200-117926000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:117925400-117925600	Enhancers	Right Atrium	heart
26	chr12:117925400-117925800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:117925400-117925800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr12:117925400-117933200	Weak transcription	H1 Cell Line	embryonic stem cell

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