Variant report

Variant	rs290513
Chromosome Location	chr5:60310763-60310764
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:60308495..60310817-chr5:60337811..60340272,2	K562	blood:
2	chr5:60309345..60311074-chr5:60313385..60316097,2	K562	blood:
3	chr5:60305681..60307942-chr5:60309957..60312620,2	MCF-7	breast:

Extended variants
information (count: 202 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:184)

rs_ID	r²[population]
rs10064187	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10076937	0.86[ASN][1000 genomes]
rs1020371	0.80[ASN][1000 genomes]
rs1038144	0.80[ASN][1000 genomes]
rs10471502	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10514906	0.88[ASN][1000 genomes]
rs11744756	0.80[ASN][1000 genomes]
rs11957772	1.00[ASN][1000 genomes]
rs124898	0.94[ASN][1000 genomes]
rs12518865	1.00[ASN][1000 genomes]
rs12522154	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13155076	0.86[ASN][1000 genomes]
rs13168191	1.00[ASN][1000 genomes]
rs1382914	1.00[ASN][1000 genomes]
rs158564	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs158570	0.91[ASN][1000 genomes]
rs158571	0.97[ASN][1000 genomes]
rs158696	0.94[ASN][1000 genomes]
rs158697	0.94[ASN][1000 genomes]
rs158699	0.94[ASN][1000 genomes]
rs158700	0.94[ASN][1000 genomes]
rs158914	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158915	0.97[ASN][1000 genomes]
rs158918	0.91[ASN][1000 genomes]
rs158919	0.97[ASN][1000 genomes]
rs158922	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs158923	1.00[ASN][1000 genomes]
rs158924	1.00[ASN][1000 genomes]
rs158927	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158929	0.91[ASN][1000 genomes]
rs158931	0.97[ASN][1000 genomes]
rs158932	0.94[ASN][1000 genomes]
rs158933	0.97[ASN][1000 genomes]
rs158934	0.97[ASN][1000 genomes]
rs158935	0.97[ASN][1000 genomes]
rs158936	0.97[ASN][1000 genomes]
rs158937	0.91[ASN][1000 genomes]
rs158938	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs159357	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159358	0.94[ASN][1000 genomes]
rs159371	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159374	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159375	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs159376	0.94[ASN][1000 genomes]
rs159377	0.94[ASN][1000 genomes]
rs159378	0.94[ASN][1000 genomes]
rs159380	0.94[ASN][1000 genomes]
rs162228	0.91[ASN][1000 genomes]
rs162234	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162238	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs162241	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs162242	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs162243	0.91[ASN][1000 genomes]
rs162244	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs162246	0.91[ASN][1000 genomes]
rs162248	1.00[ASN][1000 genomes]
rs162251	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs168710	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16878547	0.94[ASN][1000 genomes]
rs16878548	0.94[ASN][1000 genomes]
rs169700	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs172348	1.00[ASN][1000 genomes]
rs172945	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1820082	0.81[ASN][1000 genomes]
rs182410	0.94[ASN][1000 genomes]
rs1867598	0.80[ASN][1000 genomes]
rs187459	1.00[ASN][1000 genomes]
rs1989653	0.94[ASN][1000 genomes]
rs2080869	1.00[ASN][1000 genomes]
rs2120954	0.86[ASN][1000 genomes]
rs2120955	0.91[ASN][1000 genomes]
rs2263514	1.00[ASN][1000 genomes]
rs2270822	0.88[ASN][1000 genomes]
rs248677	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs248682	1.00[ASN][1000 genomes]
rs248683	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs248685	1.00[ASN][1000 genomes]
rs248688	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2545475	0.94[ASN][1000 genomes]
rs2545478	0.89[ASN][1000 genomes]
rs2545493	0.85[ASN][1000 genomes]
rs2545503	0.94[ASN][1000 genomes]
rs256375	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256376	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2590570	0.86[ASN][1000 genomes]
rs2619890	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2619893	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2650512	1.00[ASN][1000 genomes]
rs2650517	1.00[ASN][1000 genomes]
rs2694518	0.91[ASN][1000 genomes]
rs2694528	0.94[ASN][1000 genomes]
rs2694530	1.00[ASN][1000 genomes]
rs2694531	1.00[ASN][1000 genomes]
rs28407266	0.91[ASN][1000 genomes]
rs290503	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290506	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290507	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs290511	0.94[ASN][1000 genomes]
rs290514	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs290515	0.91[ASN][1000 genomes]
rs2928244	0.87[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2950235	1.00[ASN][1000 genomes]
rs295522	0.94[ASN][1000 genomes]
rs295524	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295531	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295533	1.00[ASN][1000 genomes]
rs295551	0.94[ASN][1000 genomes]
rs295559	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295560	0.94[ASN][1000 genomes]
rs295561	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295563	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295564	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295566	0.91[ASN][1000 genomes]
rs295569	0.94[ASN][1000 genomes]
rs295573	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs295578	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3101879	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3108388	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3117	0.86[ASN][1000 genomes]
rs329622	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329623	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329624	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329625	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs329626	1.00[ASN][1000 genomes]
rs34591	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34592	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34593	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34594	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34610	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34614	0.94[ASN][1000 genomes]
rs34621	0.94[ASN][1000 genomes]
rs34623	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34624	0.94[ASN][1000 genomes]
rs34636	0.94[ASN][1000 genomes]
rs34637	0.94[ASN][1000 genomes]
rs34638	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34639	1.00[ASN][1000 genomes]
rs34643	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34644	1.00[ASN][1000 genomes]
rs35546392	0.83[ASN][1000 genomes]
rs35617853	0.80[ASN][1000 genomes]
rs35766700	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35948426	0.86[ASN][1000 genomes]
rs39661	0.94[ASN][1000 genomes]
rs40084	1.00[ASN][1000 genomes]
rs40421	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4141502	1.00[ASN][1000 genomes]
rs4235483	0.86[ASN][1000 genomes]
rs4235484	0.86[ASN][1000 genomes]
rs42437	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4546327	0.80[ASN][1000 genomes]
rs4647102	0.86[ASN][1000 genomes]
rs4647138	0.86[ASN][1000 genomes]
rs4647139	0.86[ASN][1000 genomes]
rs4647151	0.80[ASN][1000 genomes]
rs4647162	0.81[ASN][1000 genomes]
rs4699963	0.80[ASN][1000 genomes]
rs4699967	0.88[ASN][1000 genomes]
rs4700406	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56409036	1.00[ASN][1000 genomes]
rs59292447	0.88[ASN][1000 genomes]
rs59797139	0.83[ASN][1000 genomes]
rs6862622	0.88[ASN][1000 genomes]
rs6863749	0.88[ASN][1000 genomes]
rs6868884	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6869073	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6869454	0.88[ASN][1000 genomes]
rs6878124	1.00[ASN][1000 genomes]
rs6885989	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6886481	1.00[ASN][1000 genomes]
rs6893210	0.88[ASN][1000 genomes]
rs723276	1.00[ASN][1000 genomes]
rs7701839	0.85[ASN][1000 genomes]
rs7712364	0.88[ASN][1000 genomes]
rs7718028	0.88[ASN][1000 genomes]
rs7723754	0.88[ASN][1000 genomes]
rs810883	0.94[ASN][1000 genomes]
rs810884	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9291702	0.94[ASN][1000 genomes]
rs929780	0.80[ASN][1000 genomes]
rs973304	0.80[ASN][1000 genomes]
rs976080	0.86[ASN][1000 genomes]
rs9763418	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs976581	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	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
14	nsv881721	chr5:60232646-60344399	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
15	nsv598313	chr5:60247815-60374912	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
16	nsv518695	chr5:60266875-60329624	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	nsv881722	chr5:60266875-60384171	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
18	nsv1019307	chr5:60295350-60409077	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs290513	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60266200-60317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60302200-60311400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr5:60310400-60325400	Weak transcription	Psoas Muscle	Psoas

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