Variant report

Variant	rs4579497
Chromosome Location	chr8:94999197-94999198
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	chr8:94999081..95001805-chr8:95002057..95004128,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10454352	0.82[EUR][1000 genomes]
rs10464832	0.82[EUR][1000 genomes]
rs10808664	0.96[CEU][hapmap];0.83[GIH][hapmap];0.85[EUR][1000 genomes]
rs10808665	0.87[EUR][1000 genomes]
rs10956892	0.81[CEU][hapmap]
rs10956893	0.96[CEU][hapmap];0.81[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	0.91[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	0.96[CEU][hapmap];0.81[GIH][hapmap];0.82[EUR][1000 genomes]
rs3134018	0.82[EUR][1000 genomes]
rs4236822	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs4236823	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs4391396	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4483119	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs4489299	0.88[EUR][1000 genomes]
rs4496935	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[EUR][1000 genomes]
rs59369332	0.82[EUR][1000 genomes]
rs62523013	0.81[EUR][1000 genomes]
rs6471417	0.82[EUR][1000 genomes]
rs7002680	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7817292	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs7835189	0.81[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4579497	RPL30	cis	parietal	SCAN
rs4579497	TMEM67	cis	parietal	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:94992400-95000000	Weak transcription	Small Intestine	intestine
2	chr8:94992400-95003000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:94992400-95003200	Weak transcription	Colonic Mucosa	Colon
4	chr8:94993200-95003200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:94993200-95003600	Weak transcription	Gastric	stomach
6	chr8:94993600-95003000	Weak transcription	Right Ventricle	heart
7	chr8:94993600-95003200	Weak transcription	Right Atrium	heart
8	chr8:94993600-95003400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:94994200-95002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:94994400-94999600	Weak transcription	Fetal Intestine Large	intestine
11	chr8:94995400-94999800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr8:94995400-95002400	Weak transcription	Brain Germinal Matrix	brain
13	chr8:94995400-95003000	Weak transcription	Brain Substantia Nigra	brain
14	chr8:94995800-95003000	Weak transcription	Fetal Brain Male	brain
15	chr8:94996400-95003200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr8:94996800-95000200	Enhancers	NHDF-Ad	bronchial
17	chr8:94997200-94999200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr8:94997400-94999200	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr8:94997400-94999400	Enhancers	HMEC	breast
20	chr8:94997400-95000000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:94997400-95000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr8:94997400-95001000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:94997400-95001200	Enhancers	Colon Smooth Muscle	Colon
24	chr8:94997600-94999600	Enhancers	NHLF	lung
25	chr8:94997600-94999600	Enhancers	Osteobl	bone
26	chr8:94997600-95001200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:94997800-94999400	Enhancers	HSMMtube	muscle
28	chr8:94997800-95000200	Enhancers	Adipose Nuclei	Adipose
29	chr8:94997800-95001000	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:94998000-94999400	Enhancers	Esophagus	oesophagus
31	chr8:94998000-95000200	Enhancers	Fetal Lung	lung
32	chr8:94998000-95000200	Enhancers	Ovary	ovary
33	chr8:94998000-95001200	Enhancers	GM12878-XiMat	blood
34	chr8:94998000-95003000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr8:94998200-94999200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:94998200-94999200	Weak transcription	Pancreas	Pancrea
37	chr8:94998200-94999400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr8:94998200-94999600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:94998200-94999800	Enhancers	Stomach Mucosa	stomach
40	chr8:94998200-95000800	Enhancers	Fetal Stomach	stomach
41	chr8:94998200-95003000	Weak transcription	HSMM	muscle
42	chr8:94998200-95003200	Weak transcription	Thymus	Thymus
43	chr8:94998400-95002600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr8:94998400-95002800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr8:94998400-95002800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:94998400-95003000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr8:94998400-95003000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:94998400-95003000	Weak transcription	Brain Angular Gyrus	brain
49	chr8:94998400-95003000	Weak transcription	Fetal Thymus	thymus
50	chr8:94998400-95003200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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