Variant report

Variant	rs73978912
Chromosome Location	chr2:190958682-190958683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10169078	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10804032	1.00[ASN][1000 genomes]
rs11687019	1.00[EUR][1000 genomes]
rs12617421	1.00[ASN][1000 genomes]
rs13411862	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357722	1.00[ASN][1000 genomes]
rs4241289	1.00[EUR][1000 genomes]
rs55680126	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55867429	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58093950	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60577390	1.00[EUR][1000 genomes]
rs73978915	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978917	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978921	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978929	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73978935	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs785227	1.00[EUR][1000 genomes]
rs785249	1.00[EUR][1000 genomes]
rs785269	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	esv3439178	chr2:190877215-191124499	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190939600-190960200	Weak transcription	Aorta	Aorta
2	chr2:190954800-190970400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:190955800-190958800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:190958400-190958800	Enhancers	Brain Hippocampus Middle	brain
5	chr2:190958400-190958800	Enhancers	Brain Substantia Nigra	brain
6	chr2:190958400-190958800	Enhancers	Ovary	ovary
7	chr2:190958400-190959000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:190958400-190959000	Enhancers	Fetal Intestine Large	intestine
9	chr2:190958400-190959200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:190958400-190959400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:190958400-190960200	Enhancers	Stomach Mucosa	stomach
12	chr2:190958600-190958800	Enhancers	Gastric	stomach
13	chr2:190958600-190959000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr2:190958600-190959000	Weak transcription	HSMMtube	muscle
15	chr2:190958600-190959200	Enhancers	Small Intestine	intestine
16	chr2:190958600-190959200	Enhancers	HSMM	muscle
17	chr2:190958600-190959200	Enhancers	Osteobl	bone
18	chr2:190958600-190959400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:190958600-190959400	Enhancers	Duodenum Mucosa	Duodenum
20	chr2:190958600-190959600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:190958600-190959600	Enhancers	Fetal Lung	lung
22	chr2:190958600-190959600	Enhancers	Skeletal Muscle Female	skeletal muscle

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