Variant report

Variant	rs2058472
Chromosome Location	chr6:139755126-139755127
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:139754348..139756927-chr6:139762394..139767800,8	K562	blood:
2	chr6:139747336..139750821-chr6:139752106..139755148,4	K562	blood:
3	chr6:139726329..139729314-chr6:139754654..139757531,2	MCF-7	breast:
4	chr6:139694417..139698600-chr6:139753656..139760894,11	MCF-7	breast:
5	chr6:139691021..139693001-chr6:139754564..139757167,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2058471	1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010302	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010305	0.94[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010307	1.00[CHB][hapmap]
rs3010309	1.00[CHB][hapmap]
rs6918767	1.00[CHB][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2058472	PEX3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:139747800-139757400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr6:139751800-139757400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:139754400-139755200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr6:139754400-139755400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:139754400-139755400	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr6:139754600-139755200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr6:139754600-139755200	Enhancers	Primary B cells from peripheral blood	blood
8	chr6:139754600-139755200	Enhancers	Muscle Satellite Cultured Cells	--
9	chr6:139754600-139755200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:139754600-139755200	Enhancers	Fetal Intestine Large	intestine
11	chr6:139754600-139755200	Enhancers	NH-A	brain
12	chr6:139754600-139755200	Enhancers	Osteobl	bone
13	chr6:139754600-139755400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr6:139754600-139755400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr6:139754600-139755400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:139754600-139755400	Enhancers	Duodenum Mucosa	Duodenum
17	chr6:139754600-139755400	Enhancers	Fetal Intestine Small	intestine
18	chr6:139754600-139755400	Enhancers	Stomach Mucosa	stomach
19	chr6:139754600-139755400	Enhancers	HepG2	liver
20	chr6:139754600-139755600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr6:139754600-139755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr6:139754600-139756000	Enhancers	K562	blood
23	chr6:139754800-139755200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:139754800-139755400	Enhancers	Hela-S3	cervix
25	chr6:139754800-139755400	Enhancers	NHDF-Ad	bronchial
26	chr6:139755000-139755200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:139755000-139755400	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr6:139755000-139755600	Enhancers	Fetal Heart	heart
29	chr6:139755000-139756200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr6:139755000-139757200	Weak transcription	Colon Smooth Muscle	Colon
31	chr6:139755000-139760000	Weak transcription	Primary hematopoietic stem cells	blood

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