Variant report

Variant	rs295582
Chromosome Location	chr5:60417652-60417653
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11957772	0.87[EUR][1000 genomes]
rs124898	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12518865	0.87[EUR][1000 genomes]
rs13168191	0.87[EUR][1000 genomes]
rs159358	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs159374	0.81[AFR][1000 genomes]
rs159375	0.81[AFR][1000 genomes]
rs159376	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs159377	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs159378	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs159380	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs182410	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs185354	0.84[EUR][1000 genomes]
rs187459	0.86[EUR][1000 genomes]
rs2080869	0.87[EUR][1000 genomes]
rs248677	0.83[EUR][1000 genomes]
rs248682	0.87[EUR][1000 genomes]
rs248685	0.87[EUR][1000 genomes]
rs2545475	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2545478	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2545503	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295522	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs295532	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs295533	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295551	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295560	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295561	0.84[AFR][1000 genomes]
rs295563	0.84[AFR][1000 genomes]
rs295564	0.84[AFR][1000 genomes]
rs295566	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs295569	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs295573	0.81[AFR][1000 genomes]
rs295578	0.84[AFR][1000 genomes]
rs295579	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34593	0.82[EUR][1000 genomes]
rs34614	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34621	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34624	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34636	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34637	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34639	0.86[EUR][1000 genomes]
rs34644	0.86[EUR][1000 genomes]
rs39661	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs40084	0.86[EUR][1000 genomes]
rs4141502	0.87[EUR][1000 genomes]
rs6869073	0.84[AFR][1000 genomes]
rs6878124	0.87[EUR][1000 genomes]
rs6886481	0.87[EUR][1000 genomes]
rs723276	0.87[EUR][1000 genomes]
rs7701839	0.84[EUR][1000 genomes]
rs810883	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv869065	chr5:60180775-60428760	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv598314	chr5:60374912-60459040	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1034038	chr5:60375328-60607654	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv1028884	chr5:60414723-60732779	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs295582	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60381000-60419400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:60395400-60428200	Weak transcription	HSMMtube	muscle
3	chr5:60396800-60420400	Weak transcription	Ovary	ovary
4	chr5:60398400-60418800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr5:60398800-60453800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:60402800-60420600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:60408200-60418600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:60409600-60418600	Weak transcription	Fetal Intestine Small	intestine
9	chr5:60410400-60418800	Weak transcription	Gastric	stomach
10	chr5:60411200-60420600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:60411200-60422400	Weak transcription	Aorta	Aorta
12	chr5:60415600-60421800	Weak transcription	Esophagus	oesophagus
13	chr5:60417200-60449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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