Variant report

Variant	rs10035950
Chromosome Location	chr5:58423010-58423011
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10036199	1.00[ASN][1000 genomes]
rs10056754	1.00[ASN][1000 genomes]
rs10062176	1.00[ASN][1000 genomes]
rs10079544	1.00[ASN][1000 genomes]
rs28544243	1.00[ASN][1000 genomes]
rs7734053	1.00[ASN][1000 genomes]
rs7734070	1.00[ASN][1000 genomes]
rs9292192	1.00[ASN][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
rs10035950	ERCC8	cis	cerebellum	SCAN

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58418600-58424800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr5:58419400-58423200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:58420200-58423600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:58420800-58423200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:58421000-58423400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr5:58421000-58423400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:58421200-58423400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
8	chr5:58421400-58423200	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:58421400-58423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:58421600-58423200	Weak transcription	Esophagus	oesophagus
11	chr5:58422000-58423400	Flanking Active TSS	Fetal Lung	lung
12	chr5:58422000-58423400	Flanking Active TSS	A549	lung
13	chr5:58422000-58423400	Flanking Active TSS	NHDF-Ad	bronchial
14	chr5:58422200-58423200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:58422200-58423200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr5:58422200-58424000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr5:58422400-58423200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr5:58422400-58423200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:58422400-58423200	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr5:58422400-58423200	Flanking Active TSS	HSMMtube	muscle
21	chr5:58422400-58423200	Flanking Active TSS	NHLF	lung
22	chr5:58422400-58423400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr5:58422400-58423400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:58422400-58423400	Flanking Active TSS	Duodenum Mucosa	Duodenum
25	chr5:58422400-58423400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr5:58422400-58423800	Active TSS	Psoas Muscle	Psoas
27	chr5:58422600-58423200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr5:58422600-58423200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:58422600-58423200	Flanking Active TSS	Brain Angular Gyrus	brain
30	chr5:58422600-58423200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:58422600-58423200	Flanking Active TSS	Fetal Heart	heart
32	chr5:58422600-58423200	Enhancers	Fetal Intestine Large	intestine
33	chr5:58422600-58423200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr5:58422600-58423200	Enhancers	Fetal Stomach	stomach
35	chr5:58422600-58423200	Bivalent Enhancer	HUVEC	blood vessel
36	chr5:58422600-58423400	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr5:58422600-58423400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr5:58422600-58423400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr5:58422600-58423400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr5:58422600-58423400	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr5:58422600-58423400	Flanking Active TSS	Fetal Kidney	kidney
42	chr5:58422600-58423400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr5:58422600-58423400	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr5:58422600-58424200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr5:58422600-58424200	Active TSS	Brain Substantia Nigra	brain
46	chr5:58422800-58423200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr5:58422800-58423200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:58422800-58423200	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr5:58422800-58423200	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:58422800-58423200	Enhancers	Liver	Liver

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