Variant report

Variant	rs12695957
Chromosome Location	chr3:150254191-150254192
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2090916	0.82[AFR][1000 genomes]
rs6440683	0.86[AFR][1000 genomes]
rs6764672	0.88[AFR][1000 genomes]
rs7628889	0.82[AFR][1000 genomes]
rs7631671	0.84[AFR][1000 genomes]
rs8052	0.87[AFR][1000 genomes]
rs9871517	0.87[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	nsv532662	chr3:150180747-150633414	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12695957	EIF2A	cis	Artery Tibial	GTEx
rs12695957	EIF2A	cis	lung	GTEx
rs12695957	EIF2A	cis	Esophagus Muscularis	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:150235400-150256600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:150246200-150260600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:150246400-150259000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:150246400-150259200	Weak transcription	Fetal Lung	lung
5	chr3:150246400-150261800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:150246400-150262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr3:150247000-150259400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:150248400-150263200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:150248800-150262000	Weak transcription	Thymus	Thymus
10	chr3:150249600-150260400	Weak transcription	GM12878-XiMat	blood
11	chr3:150251200-150259400	Weak transcription	Fetal Brain Female	brain
12	chr3:150252600-150259000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:150252600-150259000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:150253200-150259000	Weak transcription	HSMMtube	muscle
15	chr3:150253400-150258800	Weak transcription	A549	lung
16	chr3:150253400-150259200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr3:150253400-150259600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr3:150253600-150255800	Weak transcription	Stomach Mucosa	stomach
19	chr3:150254000-150259200	Weak transcription	HSMM	muscle

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Input of quick search could be:

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

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