Variant report

Variant	rs9350942
Chromosome Location	chr6:82725412-82725413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:82724785..82726796-chr6:82728771..82731577,2	K562	blood:
2	chr6:82725024..82725524-chr8:107278617..107279120,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12190391	0.97[EUR][1000 genomes]
rs12199970	0.95[EUR][1000 genomes]
rs12202553	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12203975	0.97[EUR][1000 genomes]
rs12208013	0.96[EUR][1000 genomes]
rs12215979	0.91[CEU][hapmap];0.85[CHB][hapmap];0.95[EUR][1000 genomes]
rs1342195	0.95[EUR][1000 genomes]
rs1361689	0.95[EUR][1000 genomes]
rs1361691	0.96[EUR][1000 genomes]
rs1361694	0.96[EUR][1000 genomes]
rs1418303	0.95[EUR][1000 genomes]
rs1935423	0.90[EUR][1000 genomes]
rs61567042	0.97[EUR][1000 genomes]
rs9344241	0.96[EUR][1000 genomes]
rs9344242	0.96[EUR][1000 genomes]
rs9344243	0.96[EUR][1000 genomes]
rs9353048	0.96[EUR][1000 genomes]
rs9361882	0.97[EUR][1000 genomes]
rs9361883	0.96[EUR][1000 genomes]
rs9361884	0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1020783	chr6:82720632-82732325	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv1021793	chr6:82720632-82737456	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1034389	chr6:82721569-82746599	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv1020964	chr6:82725168-82737456	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9350942	PGM3	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:82721600-82727600	Enhancers	HUVEC	blood vessel
2	chr6:82722400-82728200	Enhancers	Hela-S3	cervix
3	chr6:82722800-82727600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr6:82722800-82728000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr6:82723000-82727800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:82723000-82728400	Enhancers	HMEC	breast
7	chr6:82723200-82725800	Enhancers	NHEK	skin
8	chr6:82723200-82726200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr6:82723400-82725800	Enhancers	Osteobl	bone
10	chr6:82723600-82725600	Enhancers	Ovary	ovary
11	chr6:82723600-82726400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr6:82723600-82727800	Enhancers	HSMM	muscle
13	chr6:82723800-82726600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:82723800-82727000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:82724000-82726400	Weak transcription	HSMMtube	muscle
16	chr6:82724000-82728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr6:82724200-82727800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr6:82724600-82725600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr6:82724600-82725600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr6:82724600-82726200	Weak transcription	Right Ventricle	heart
21	chr6:82724800-82726000	Weak transcription	Right Atrium	heart
22	chr6:82724800-82726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:82725000-82726000	Weak transcription	Adipose Nuclei	Adipose
24	chr6:82725000-82726000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:82725000-82726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:82725000-82726800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr6:82725000-82726800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr6:82725000-82727400	Enhancers	HepG2	liver
29	chr6:82725000-82728200	Weak transcription	Psoas Muscle	Psoas
30	chr6:82725200-82725600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:82725200-82726000	Enhancers	Liver	Liver
32	chr6:82725200-82726800	Weak transcription	NHLF	lung
33	chr6:82725200-82731600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr6:82725400-82725800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr6:82725400-82726000	Weak transcription	Aorta	Aorta
36	chr6:82725400-82726800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr6:82725400-82728200	Enhancers	NHDF-Ad	bronchial
38	chr6:82725400-82731800	Weak transcription	NH-A	brain

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