Variant report

Variant	rs62282255
Chromosome Location	chr3:101417049-101417050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:101414723..101417089-chr3:101422376..101424511,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1056579	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1138818	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11711079	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11712748	0.81[ASN][1000 genomes]
rs11917569	0.81[AFR][1000 genomes]
rs11917682	0.81[AFR][1000 genomes]
rs11919389	0.81[AMR][1000 genomes]
rs11925001	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12629658	0.81[AFR][1000 genomes]
rs12629954	0.82[AFR][1000 genomes]
rs12635128	0.82[AFR][1000 genomes]
rs12636557	0.81[ASN][1000 genomes]
rs13059470	0.81[AMR][1000 genomes]
rs13061565	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13069443	0.89[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13077703	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13081846	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs13100262	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17411983	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs2288272	0.81[ASN][1000 genomes]
rs2303474	0.81[ASN][1000 genomes]
rs3094295	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3094296	0.81[ASN][1000 genomes]
rs3094297	0.82[ASN][1000 genomes]
rs34301719	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs34624546	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs34883763	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs36060163	0.86[AFR][1000 genomes]
rs3806653	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3806654	0.82[ASN][1000 genomes]
rs55654108	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs55859364	0.81[ASN][1000 genomes]
rs56291106	0.92[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59596156	0.81[ASN][1000 genomes]
rs62282218	0.81[ASN][1000 genomes]
rs71625262	0.80[AFR][1000 genomes]
rs7629753	0.81[ASN][1000 genomes]
rs7651721	0.82[AMR][1000 genomes];0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62282255	NXPE3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:10 , 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	chr3:101406800-101419200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr3:101407000-101422600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr3:101410200-101420600	Weak transcription	Lung	lung
6	chr3:101414600-101422400	Weak transcription	Fetal Muscle Leg	muscle
7	chr3:101414800-101422200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr3:101415000-101420200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr3:101415200-101422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr3:101415400-101420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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