Variant report

Variant	rs12519587
Chromosome Location	chr5:60086900-60086901
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10043291	0.85[EUR][1000 genomes]
rs10062240	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10068474	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1444237	0.85[EUR][1000 genomes]
rs1444240	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1460958	0.84[EUR][1000 genomes]
rs1807017	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4353980	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4527549	0.85[EUR][1000 genomes]
rs6874699	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7720233	0.83[EUR][1000 genomes]

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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12519587	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60044800-60098000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr5:60057600-60092200	Weak transcription	Brain Anterior Caudate	brain
3	chr5:60057600-60093200	Weak transcription	Pancreas	Pancrea
4	chr5:60065200-60091800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr5:60065200-60101200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:60075400-60092800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:60075400-60093000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr5:60075800-60090800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr5:60077400-60092000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr5:60077400-60092000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:60080200-60101400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:60082000-60092200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr5:60082000-60092400	Weak transcription	Brain Hippocampus Middle	brain
14	chr5:60082400-60090000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr5:60082400-60112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:60082600-60088600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:60085400-60089800	Weak transcription	Fetal Intestine Small	intestine
18	chr5:60085400-60090200	Weak transcription	Fetal Intestine Large	intestine
19	chr5:60085600-60090000	Weak transcription	Duodenum Mucosa	Duodenum

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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