Variant report

Variant	rs635092
Chromosome Location	chr2:31516120-31516121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1010477	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11683836	1.00[JPT][hapmap]
rs12988379	1.00[JPT][hapmap]
rs4951977	1.00[JPT][hapmap]
rs590009	0.90[CEU][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs598204	0.87[ASN][1000 genomes]
rs602322	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs602771	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs603824	0.82[EUR][1000 genomes]
rs604127	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs604986	0.90[CEU][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs631396	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs644417	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs644736	0.81[EUR][1000 genomes]
rs646103	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs646200	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs661015	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs674791	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs684967	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
2	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv978990	chr2:31513125-31517502	Enhancers Weak transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs635092	EHD3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31509200-31522000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31510800-31516200	Weak transcription	Right Ventricle	heart
3	chr2:31510800-31516600	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:31511000-31516800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:31511000-31517000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:31511200-31519000	Weak transcription	NH-A	brain
7	chr2:31511200-31523200	Weak transcription	HMEC	breast
8	chr2:31511400-31516400	Weak transcription	Aorta	Aorta
9	chr2:31511400-31519200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:31511600-31516200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:31511600-31516800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:31511600-31517200	Weak transcription	Fetal Heart	heart
13	chr2:31511600-31518400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:31511600-31519000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:31512800-31518600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:31516000-31517000	Enhancers	Esophagus	oesophagus

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

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