Variant report

Variant	rs1014317
Chromosome Location	chr5:58429581-58429582
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs17778950	0.90[CHB][hapmap];0.81[CHD][hapmap];0.95[JPT][hapmap];0.92[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
rs1014317	MIER3	cis	cerebellum	SCAN

Chromatin state (count:44 , 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	chr5:58424600-58429600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:58424800-58429600	Weak transcription	HSMM	muscle
10	chr5:58425000-58429600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:58425000-58429600	Weak transcription	Osteobl	bone
12	chr5:58425800-58429800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr5:58426600-58430200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:58426800-58430200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr5:58426800-58431200	Enhancers	Primary T cells from cord blood	blood
16	chr5:58427200-58454000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:58427400-58429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:58427400-58430000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr5:58428000-58431000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:58428400-58429600	Enhancers	A549	lung
21	chr5:58428800-58430200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr5:58428800-58435800	Weak transcription	Fetal Heart	heart
23	chr5:58429000-58430800	Enhancers	NHDF-Ad	bronchial
24	chr5:58429200-58431200	Enhancers	Hela-S3	cervix
25	chr5:58429400-58429600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:58429400-58429600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr5:58429400-58429600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr5:58429400-58429800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:58429400-58429800	Enhancers	Left Ventricle	heart
30	chr5:58429400-58429800	Enhancers	Right Atrium	heart
31	chr5:58429400-58430000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:58429400-58430000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:58429400-58430000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr5:58429400-58430000	Enhancers	Aorta	Aorta
35	chr5:58429400-58430000	Enhancers	Colon Smooth Muscle	Colon
36	chr5:58429400-58430000	Enhancers	Psoas Muscle	Psoas
37	chr5:58429400-58430000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr5:58429400-58430000	Enhancers	HMEC	breast
39	chr5:58429400-58430200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:58429400-58430400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:58429400-58430600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr5:58429400-58430600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:58429400-58431200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:58429400-58431200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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