Variant report

Variant	rs34883763
Chromosome Location	chr3:101419783-101419784
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs1031710	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1056579	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1138818	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11706986	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11707250	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11710533	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11710805	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11711079	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11711903	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11712309	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11712748	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11712888	0.81[ASN][1000 genomes]
rs11714278	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11714444	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11717046	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11717638	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11720745	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11914318	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11917569	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11917682	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11919389	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11924013	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11925001	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12629658	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12629954	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12631513	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12633089	0.81[ASN][1000 genomes]
rs12635128	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12636557	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12639028	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13059470	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13060963	0.89[ASN][1000 genomes]
rs13061565	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13065944	0.88[ASN][1000 genomes]
rs13066768	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13068350	0.83[ASN][1000 genomes]
rs13069443	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13077703	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13077925	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13078652	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13081846	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13082236	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs13084113	0.81[ASN][1000 genomes]
rs13084432	0.82[ASN][1000 genomes]
rs13085776	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13094753	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13094911	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13096323	0.84[ASN][1000 genomes]
rs13099674	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13100262	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1460097	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17347156	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17411983	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1963961	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1963962	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2288272	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2290859	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2303474	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2318090	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3094295	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3094296	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3094297	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3109756	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34063583	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34161138	0.81[ASN][1000 genomes]
rs34181125	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34263427	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34301719	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34376498	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34624546	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34648996	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34743741	0.81[ASN][1000 genomes]
rs34947019	0.81[ASN][1000 genomes]
rs34963630	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35117343	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35799195	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35810977	0.81[ASN][1000 genomes]
rs35850993	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36002990	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36060163	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3806653	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806654	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3864012	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4342086	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55654108	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55821257	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55859364	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291106	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58658478	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59596156	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61396602	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62282218	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62282255	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs62284162	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62284198	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62284199	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6768327	0.82[ASN][1000 genomes]
rs71625262	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7629753	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7645391	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7651406	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651721	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9830943	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[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	nsv497784	chr3:101315009-102092989	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv997407	chr3:101384031-101611391	Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv536675	chr3:101384031-101611391	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs34883763	NXPE3	cis	Esophagus Muscularis	GTEx
rs34883763	RP11-49I4.3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101406400-101422200	Weak transcription	Ovary	ovary
2	chr3:101406600-101426400	Weak transcription	Fetal Intestine Small	intestine
3	chr3:101407000-101422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr3:101410200-101420600	Weak transcription	Lung	lung
5	chr3:101414600-101422400	Weak transcription	Fetal Muscle Leg	muscle
6	chr3:101414800-101422200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr3:101415000-101420200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr3:101415200-101422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:101415400-101420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr3:101419400-101422200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:101419600-101419800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr3:101419600-101423000	Enhancers	Placenta	Placenta

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