Variant report

Variant	rs4391396
Chromosome Location	chr8:94995745-94995746
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:94995393..94996943-chr8:95090830..95092485,2	MCF-7	breast:
2	chr8:94994743..94996394-chr8:95094058..95095637,2	MCF-7	breast:
3	chr8:94995456..94997852-chr8:95273502..95275936,2	MCF-7	breast:
4	chr8:94834199..94835199-chr8:94995172..94996360,4	MCF-7	breast:
5	chr8:94995005..94995988-chr8:95369058..95370213,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10454352	0.82[EUR][1000 genomes]
rs10464832	0.82[EUR][1000 genomes]
rs10808664	0.92[CEU][hapmap];0.87[GIH][hapmap];0.85[EUR][1000 genomes]
rs10808665	0.87[EUR][1000 genomes]
rs10956893	0.92[CEU][hapmap];0.85[GIH][hapmap];0.84[EUR][1000 genomes]
rs11784805	0.82[EUR][1000 genomes]
rs11787272	0.81[EUR][1000 genomes]
rs12675328	0.85[EUR][1000 genomes]
rs12681770	0.88[EUR][1000 genomes]
rs12681774	0.88[EUR][1000 genomes]
rs16916334	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs16916340	0.88[EUR][1000 genomes]
rs16916344	0.88[EUR][1000 genomes]
rs3115942	0.82[EUR][1000 genomes]
rs3115943	0.81[EUR][1000 genomes]
rs3115947	0.82[EUR][1000 genomes]
rs3134014	0.80[EUR][1000 genomes]
rs3134015	0.92[CEU][hapmap];0.85[GIH][hapmap];0.82[EUR][1000 genomes]
rs3134018	0.82[EUR][1000 genomes]
rs4236822	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs4236823	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs4483119	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs4489299	0.88[EUR][1000 genomes]
rs4496935	0.85[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs4579497	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59369332	0.82[EUR][1000 genomes]
rs62523013	0.81[EUR][1000 genomes]
rs6471417	0.82[EUR][1000 genomes]
rs7002680	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817292	0.92[CEU][hapmap];0.82[GIH][hapmap];0.82[EUR][1000 genomes]
rs7835189	0.81[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4391396	TMEM67	cis	parietal	SCAN
rs4391396	RPL30	cis	parietal	SCAN

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94992400-94997600	Weak transcription	Aorta	Aorta
2	chr8:94992400-94998000	Weak transcription	Esophagus	oesophagus
3	chr8:94992400-95000000	Weak transcription	Small Intestine	intestine
4	chr8:94992400-95003000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr8:94992400-95003200	Weak transcription	Colonic Mucosa	Colon
6	chr8:94993000-94996600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:94993000-94996800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:94993000-94997400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:94993000-94998000	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:94993200-94997400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:94993200-94997400	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:94993200-94997400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:94993200-94997600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:94993200-94998200	Weak transcription	Stomach Mucosa	stomach
15	chr8:94993200-94998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:94993200-95003200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr8:94993200-95003600	Weak transcription	Gastric	stomach
18	chr8:94993400-94998000	Weak transcription	Fetal Lung	lung
19	chr8:94993400-94998000	Weak transcription	Stomach Smooth Muscle	stomach
20	chr8:94993600-94998000	Weak transcription	Ovary	ovary
21	chr8:94993600-95003000	Weak transcription	Right Ventricle	heart
22	chr8:94993600-95003200	Weak transcription	Right Atrium	heart
23	chr8:94993600-95003400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr8:94994200-95002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:94994400-94996000	Enhancers	Fetal Brain Female	brain
26	chr8:94994400-94996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:94994400-94997800	Weak transcription	NHEK	skin
28	chr8:94994400-94998000	Weak transcription	Lung	lung
29	chr8:94994400-94998800	Weak transcription	Fetal Intestine Small	intestine
30	chr8:94994400-94999600	Weak transcription	Fetal Intestine Large	intestine
31	chr8:94994600-94997400	Weak transcription	HMEC	breast
32	chr8:94994600-94998200	Weak transcription	Fetal Stomach	stomach
33	chr8:94995000-94995800	Enhancers	Fetal Brain Male	brain
34	chr8:94995400-94996000	Weak transcription	Brain Anterior Caudate	brain
35	chr8:94995400-94996800	Weak transcription	NHDF-Ad	bronchial
36	chr8:94995400-94999800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:94995400-95002400	Weak transcription	Brain Germinal Matrix	brain
38	chr8:94995400-95003000	Weak transcription	Brain Substantia Nigra	brain
39	chr8:94995600-94995800	Enhancers	Brain Angular Gyrus	brain

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