Variant report

Variant	rs34610
Chromosome Location	chr5:60479681-60479682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:60475085..60478138-chr5:60478979..60482831,4	K562	blood:
2	chr5:60470829..60473385-chr5:60478345..60480116,2	K562	blood:

Extended variants
information (count: 153 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:150)

rs_ID	r²[population]
rs10471502	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10514906	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11957772	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs124898	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518865	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13168191	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1382914	0.94[ASN][1000 genomes]
rs158564	0.94[ASN][1000 genomes]
rs158571	0.91[ASN][1000 genomes]
rs158696	0.88[ASN][1000 genomes]
rs158697	0.88[ASN][1000 genomes]
rs158699	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs158700	0.88[ASN][1000 genomes]
rs158914	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158915	0.91[ASN][1000 genomes]
rs158918	0.86[ASN][1000 genomes]
rs158919	0.91[ASN][1000 genomes]
rs158922	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158923	0.94[ASN][1000 genomes]
rs158924	0.94[ASN][1000 genomes]
rs158927	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158931	0.91[ASN][1000 genomes]
rs158932	0.89[ASN][1000 genomes]
rs158933	0.91[ASN][1000 genomes]
rs158934	0.91[ASN][1000 genomes]
rs158935	0.91[ASN][1000 genomes]
rs158936	0.91[ASN][1000 genomes]
rs158937	0.86[ASN][1000 genomes]
rs158938	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs159357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159371	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159374	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159376	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs159377	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159378	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs159380	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162234	0.94[ASN][1000 genomes]
rs162238	0.94[ASN][1000 genomes]
rs162241	0.94[ASN][1000 genomes]
rs162242	0.94[ASN][1000 genomes]
rs162243	0.86[ASN][1000 genomes]
rs162244	0.94[ASN][1000 genomes]
rs162246	0.86[ASN][1000 genomes]
rs162248	0.94[ASN][1000 genomes]
rs162251	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs168710	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16878547	0.88[ASN][1000 genomes]
rs16878548	0.88[ASN][1000 genomes]
rs169700	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs172348	0.94[ASN][1000 genomes]
rs172945	0.94[ASN][1000 genomes]
rs1820082	0.86[ASN][1000 genomes]
rs182410	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs185354	0.91[AFR][1000 genomes]
rs187459	0.94[ASN][1000 genomes]
rs1989653	0.88[ASN][1000 genomes]
rs2080869	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2263514	0.94[ASN][1000 genomes]
rs2270822	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs248677	0.94[ASN][1000 genomes]
rs248682	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248683	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248685	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs248688	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545475	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545478	0.89[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2545493	0.85[ASN][1000 genomes]
rs2545503	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs256375	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256376	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619890	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2619893	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2650512	0.94[ASN][1000 genomes]
rs2650517	0.94[ASN][1000 genomes]
rs2694518	0.97[ASN][1000 genomes]
rs2694528	0.88[ASN][1000 genomes]
rs2694530	0.94[ASN][1000 genomes]
rs2694531	0.94[ASN][1000 genomes]
rs290503	0.94[ASN][1000 genomes]
rs290506	0.94[ASN][1000 genomes]
rs290507	0.94[ASN][1000 genomes]
rs290511	0.88[ASN][1000 genomes]
rs290513	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs290514	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs290515	0.97[ASN][1000 genomes]
rs2950235	0.94[ASN][1000 genomes]
rs295522	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295531	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295532	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs295533	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295551	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295559	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295560	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs295561	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295563	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295564	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295566	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs295569	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295573	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295578	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs295579	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3101879	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3108388	0.94[ASN][1000 genomes]
rs329622	0.94[ASN][1000 genomes]
rs329623	0.94[ASN][1000 genomes]
rs329624	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs329625	0.94[ASN][1000 genomes]
rs329626	0.94[ASN][1000 genomes]
rs34591	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34592	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34593	0.94[ASN][1000 genomes]
rs34594	0.92[EUR][1000 genomes]
rs34614	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34621	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34623	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34624	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34637	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34638	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34639	0.94[ASN][1000 genomes]
rs34643	0.96[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34644	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs39661	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs40084	0.94[ASN][1000 genomes]
rs40421	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4141502	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs42437	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4699967	0.83[ASN][1000 genomes]
rs4700406	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4700410	0.85[ASN][1000 genomes]
rs56409036	0.94[ASN][1000 genomes]
rs59292447	0.94[ASN][1000 genomes]
rs6862622	0.94[ASN][1000 genomes]
rs6863749	0.94[ASN][1000 genomes]
rs6868884	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869454	0.94[ASN][1000 genomes]
rs6878124	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6886481	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6893210	0.94[ASN][1000 genomes]
rs723276	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7712364	0.94[ASN][1000 genomes]
rs7718028	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7723754	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs810883	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810884	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291702	0.88[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	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	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
3	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
rs34610	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60468600-60484400	Weak transcription	Aorta	Aorta
2	chr5:60477200-60480200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:60477200-60480400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:60477200-60480400	Weak transcription	HUVEC	blood vessel
5	chr5:60477200-60480400	Weak transcription	NHDF-Ad	bronchial
6	chr5:60477200-60480400	Weak transcription	NHLF	lung
7	chr5:60477200-60483800	Weak transcription	Right Atrium	heart
8	chr5:60477400-60480400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:60477600-60480000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr5:60479000-60480400	Weak transcription	Fetal Lung	lung

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