Variant report

Variant	rs17778950
Chromosome Location	chr5:58430196-58430197
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10064744	0.90[CHB][hapmap]
rs1014317	0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2409629	0.88[CEU][hapmap];0.90[TSI][hapmap]
rs56205777	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2830363	chr5:57893949-58555491	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17778950	ERCC8	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58424000-58439800	Weak transcription	Small Intestine	intestine
2	chr5:58424000-58447000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58424200-58432800	Weak transcription	Right Ventricle	heart
4	chr5:58424200-58446200	Weak transcription	Fetal Intestine Large	intestine
5	chr5:58424200-58446600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr5:58424400-58430200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr5:58424400-58431400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:58426600-58430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:58426800-58430200	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr5:58426800-58431200	Enhancers	Primary T cells from cord blood	blood
11	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr5:58428000-58431000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr5:58428800-58430200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr5:58428800-58435800	Weak transcription	Fetal Heart	heart
15	chr5:58429000-58430800	Enhancers	NHDF-Ad	bronchial
16	chr5:58429200-58431200	Enhancers	Hela-S3	cervix
17	chr5:58429400-58430200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:58429400-58430400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:58429400-58430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:58429400-58430600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:58429400-58431200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:58429400-58431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:58429600-58430200	Genic enhancers	A549	lung
24	chr5:58429600-58430800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:58429600-58430800	Enhancers	Osteobl	bone
26	chr5:58429600-58431000	Enhancers	HSMM	muscle
27	chr5:58429800-58430400	Enhancers	Placenta Amnion	Placenta Amnion
28	chr5:58429800-58431000	Enhancers	Fetal Lung	lung
29	chr5:58429800-58433800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:58429800-58447200	Weak transcription	Left Ventricle	heart
31	chr5:58430000-58430600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:58430000-58430800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:58430000-58430800	Weak transcription	Aorta	Aorta
34	chr5:58430000-58432600	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:58430000-58434400	Weak transcription	Psoas Muscle	Psoas
36	chr5:58430000-58437000	Weak transcription	Colon Smooth Muscle	Colon
37	chr5:58430000-58442600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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