Variant report

Variant	rs1010477
Chromosome Location	chr2:31499064-31499065
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10175943	0.91[ASN][1000 genomes]
rs11124256	0.91[ASN][1000 genomes]
rs11683836	0.91[ASN][1000 genomes]
rs12988379	0.91[ASN][1000 genomes]
rs1474941	0.91[ASN][1000 genomes]
rs2145036	0.91[ASN][1000 genomes]
rs4366947	0.87[ASN][1000 genomes]
rs4951976	0.86[ASN][1000 genomes]
rs4951977	0.91[ASN][1000 genomes]
rs4952077	0.91[ASN][1000 genomes]
rs4952078	0.86[ASN][1000 genomes]
rs586245	0.86[ASN][1000 genomes]
rs590009	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs598204	0.82[ASN][1000 genomes]
rs600236	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs602322	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602771	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs603824	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs604986	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs631396	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635092	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs637911	0.91[ASN][1000 genomes]
rs644417	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs644736	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs646103	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs646200	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6543622	0.91[ASN][1000 genomes]
rs661015	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs674791	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs684967	0.82[ASN][1000 genomes]
rs7567147	0.86[ASN][1000 genomes]
rs7581173	0.86[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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1010477	EHD3	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31463600-31501400	Weak transcription	Pancreas	Pancrea
2	chr2:31468200-31501600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:31482000-31501000	Weak transcription	Fetal Intestine Large	intestine
4	chr2:31482600-31501400	Weak transcription	Liver	Liver
5	chr2:31486600-31510000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr2:31490000-31502400	Weak transcription	Spleen	Spleen
7	chr2:31491400-31499800	Weak transcription	Fetal Brain Female	brain
8	chr2:31492400-31507800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:31492800-31510600	Weak transcription	Aorta	Aorta
10	chr2:31494400-31505600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:31495600-31499200	Enhancers	Fetal Lung	lung
12	chr2:31495800-31509800	Weak transcription	Esophagus	oesophagus
13	chr2:31497000-31501600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:31497000-31510400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:31497200-31502600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr2:31497400-31501000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:31497600-31499600	Enhancers	Right Ventricle	heart
18	chr2:31498000-31499600	Enhancers	Left Ventricle	heart
19	chr2:31498000-31500000	Enhancers	Fetal Heart	heart
20	chr2:31498400-31500600	Weak transcription	Fetal Stomach	stomach
21	chr2:31498600-31502000	Weak transcription	Placenta	Placenta
22	chr2:31499000-31499200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung

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