Variant report

Variant	rs34642
Chromosome Location	chr5:60345751-60345752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs124899	0.85[CEU][hapmap]
rs12519810	0.82[CEU][hapmap]
rs159372	1.00[CEU][hapmap]
rs248686	0.93[CEU][hapmap]
rs4647028	0.82[CEU][hapmap];1.00[YRI][hapmap]
rs4647113	0.82[CEU][hapmap]
rs4647167	0.81[CEU][hapmap]
rs7726671	0.82[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	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
6	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
7	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
8	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
9	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
rs34642	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60323000-60347000	Weak transcription	Primary B cells from cord blood	blood
2	chr5:60324600-60354000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:60326000-60400800	Weak transcription	Left Ventricle	heart
4	chr5:60339800-60348200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr5:60342800-60346000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:60342800-60346200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:60343400-60347000	Weak transcription	GM12878-XiMat	blood
8	chr5:60343600-60345800	Weak transcription	Fetal Intestine Small	intestine
9	chr5:60344600-60346400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:60344800-60346200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:60344800-60346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:60344800-60346200	Weak transcription	HSMM	muscle
13	chr5:60344800-60346200	Weak transcription	NHDF-Ad	bronchial
14	chr5:60344800-60346200	Weak transcription	NHLF	lung
15	chr5:60344800-60346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:60344800-60346400	Weak transcription	A549	lung
17	chr5:60344800-60346400	Weak transcription	HUVEC	blood vessel
18	chr5:60344800-60346400	Weak transcription	Osteobl	bone
19	chr5:60344800-60346600	Weak transcription	Hela-S3	cervix
20	chr5:60344800-60346800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:60344800-60347000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:60344800-60347000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:60344800-60347000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:60344800-60347200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr5:60344800-60353400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:60345000-60346200	Weak transcription	NH-A	brain
27	chr5:60345000-60346400	Weak transcription	HMEC	breast
28	chr5:60345000-60346600	Weak transcription	NHEK	skin
29	chr5:60345000-60346800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60345200-60346600	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:60345600-60350800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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