Variant report

Variant	rs10043291
Chromosome Location	chr5:60058858-60058859
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10039303	0.83[ASN][1000 genomes]
rs10050803	0.80[JPT][hapmap]
rs10054744	0.97[ASN][1000 genomes]
rs10058456	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs10062240	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10068474	0.91[EUR][1000 genomes]
rs10069929	0.97[ASN][1000 genomes]
rs10440618	0.97[ASN][1000 genomes]
rs10471493	0.96[ASN][1000 genomes]
rs10939860	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10939862	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1117674	0.96[ASN][1000 genomes]
rs1117675	0.97[ASN][1000 genomes]
rs1117676	0.87[ASN][1000 genomes]
rs1117677	0.97[ASN][1000 genomes]
rs11741754	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11948543	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs11954496	0.96[ASN][1000 genomes]
rs11955398	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs11959922	0.91[CHB][hapmap];0.80[JPT][hapmap]
rs12514253	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12515025	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12517174	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12517207	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12519587	0.85[EUR][1000 genomes]
rs12522801	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12651791	0.91[ASN][1000 genomes]
rs12655977	0.97[ASN][1000 genomes]
rs1379114	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1379115	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs1379116	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1444237	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1444240	0.91[EUR][1000 genomes]
rs1456742	0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1456743	0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs1460958	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17387940	0.87[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1807017	0.91[CEU][hapmap]
rs1870014	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1960479	0.97[ASN][1000 genomes]
rs1992612	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2061250	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs2085409	0.91[ASN][1000 genomes]
rs2085410	0.96[ASN][1000 genomes]
rs2085411	0.94[ASN][1000 genomes]
rs2085413	0.94[ASN][1000 genomes]
rs2100584	0.91[ASN][1000 genomes]
rs2409792	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2409794	0.91[ASN][1000 genomes]
rs286153	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs286158	0.85[CHB][hapmap]
rs2898288	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3857236	0.90[CHB][hapmap];0.90[JPT][hapmap]
rs3899221	0.97[ASN][1000 genomes]
rs4277863	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4353980	0.90[EUR][1000 genomes]
rs4398599	0.97[ASN][1000 genomes]
rs4400080	0.97[ASN][1000 genomes]
rs4406099	0.96[ASN][1000 genomes]
rs4447941	0.91[ASN][1000 genomes]
rs4524466	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4527549	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4577661	0.97[ASN][1000 genomes]
rs4700384	0.97[ASN][1000 genomes]
rs4700388	0.96[ASN][1000 genomes]
rs6449490	0.96[ASN][1000 genomes]
rs6449491	0.96[ASN][1000 genomes]
rs6449493	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6874699	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6882727	0.96[ASN][1000 genomes]
rs6887434	0.97[ASN][1000 genomes]
rs6887637	0.96[ASN][1000 genomes]
rs7381195	0.85[AMR][1000 genomes]
rs755077	0.95[CHB][hapmap];0.91[JPT][hapmap]
rs7701708	0.94[ASN][1000 genomes]
rs7709056	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7720233	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7730342	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs930864	0.93[ASN][1000 genomes]
rs9654363	0.97[ASN][1000 genomes]
rs9942410	0.95[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv462198	chr5:59969015-60116613	Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv598298	chr5:59969015-60116613	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1023403	chr5:59969534-60079822	Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription 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 miRNA target site	15 gene(s)	inside rSNPs	diseases
6	esv2763456	chr5:60007355-60151767	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1026190	chr5:60020156-60148535	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv537769	chr5:60020156-60148535	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
9	esv2752073	chr5:60034475-60136626	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
10	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
11	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10043291	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60040800-60066600	Weak transcription	Fetal Intestine Small	intestine
2	chr5:60044800-60081600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr5:60044800-60098000	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:60045200-60065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:60045200-60084400	Weak transcription	Brain Angular Gyrus	brain
6	chr5:60046000-60061000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:60046200-60065000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:60057600-60061200	Weak transcription	Fetal Intestine Large	intestine
9	chr5:60057600-60092200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:60057600-60093200	Weak transcription	Pancreas	Pancrea
11	chr5:60057800-60074800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:60058000-60066200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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