Variant report

Variant	rs16916344
Chromosome Location	chr8:94998109-94998110
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:94996355..94998847-chr8:95001188..95003516,3	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10454352	0.86[EUR][1000 genomes]
rs10464832	0.87[EUR][1000 genomes]
rs10808664	0.85[GIH][hapmap];0.86[TSI][hapmap];0.89[EUR][1000 genomes]
rs10808665	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10956891	0.86[EUR][1000 genomes]
rs10956892	0.88[CEU][hapmap];0.82[GIH][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs10956893	0.82[GIH][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes]
rs11774322	0.83[EUR][1000 genomes]
rs11783696	0.86[EUR][1000 genomes]
rs11784805	0.86[EUR][1000 genomes]
rs11787272	0.85[EUR][1000 genomes]
rs12675328	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12681770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12681774	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16916340	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3115942	0.86[EUR][1000 genomes]
rs3115943	0.85[EUR][1000 genomes]
rs3115947	0.86[EUR][1000 genomes]
rs3134014	0.85[EUR][1000 genomes]
rs3134015	0.82[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs3134018	0.86[EUR][1000 genomes]
rs4236822	0.85[EUR][1000 genomes]
rs4236823	0.86[EUR][1000 genomes]
rs4391396	0.85[CEU][hapmap];0.85[CHB][hapmap];0.81[GIH][hapmap];0.88[EUR][1000 genomes]
rs4415280	0.87[EUR][1000 genomes]
rs4483119	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4489299	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4579497	0.88[EUR][1000 genomes]
rs55813436	0.85[EUR][1000 genomes]
rs59369332	0.86[EUR][1000 genomes]
rs62523013	0.85[EUR][1000 genomes]
rs6471417	0.86[EUR][1000 genomes]
rs67035385	0.85[EUR][1000 genomes]
rs7812529	0.84[EUR][1000 genomes]
rs7817292	0.80[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs7831416	0.84[EUR][1000 genomes]
rs7835189	0.85[EUR][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs16916344	RPL30	cis	parietal	SCAN
rs16916344	TMEM67	cis	parietal	SCAN

Chromatin state (count:66 , 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	chr8:94993200-94998200	Weak transcription	Stomach Mucosa	stomach
5	chr8:94993200-94998800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr8:94993200-95003200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr8:94993200-95003600	Weak transcription	Gastric	stomach
8	chr8:94993600-95003000	Weak transcription	Right Ventricle	heart
9	chr8:94993600-95003200	Weak transcription	Right Atrium	heart
10	chr8:94993600-95003400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr8:94994200-95002800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:94994400-94998800	Weak transcription	Fetal Intestine Small	intestine
13	chr8:94994400-94999600	Weak transcription	Fetal Intestine Large	intestine
14	chr8:94994600-94998200	Weak transcription	Fetal Stomach	stomach
15	chr8:94995400-94999800	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr8:94995400-95002400	Weak transcription	Brain Germinal Matrix	brain
17	chr8:94995400-95003000	Weak transcription	Brain Substantia Nigra	brain
18	chr8:94995800-95003000	Weak transcription	Fetal Brain Male	brain
19	chr8:94996200-94998200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:94996400-95003200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:94996800-94998800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr8:94996800-95000200	Enhancers	NHDF-Ad	bronchial
23	chr8:94997200-94999200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:94997400-94999200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr8:94997400-94999400	Enhancers	HMEC	breast
26	chr8:94997400-95000000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr8:94997400-95000000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr8:94997400-95001000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr8:94997400-95001200	Enhancers	Colon Smooth Muscle	Colon
30	chr8:94997600-94998200	Enhancers	HSMM	muscle
31	chr8:94997600-94998400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr8:94997600-94998400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr8:94997600-94998400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr8:94997600-94998600	Enhancers	Primary T cells from cord blood	blood
35	chr8:94997600-94998600	Enhancers	Primary T cells fromperipheralblood	blood
36	chr8:94997600-94998600	Enhancers	Aorta	Aorta
37	chr8:94997600-94998800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr8:94997600-94999600	Enhancers	NHLF	lung
39	chr8:94997600-94999600	Enhancers	Osteobl	bone
40	chr8:94997600-95001200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr8:94997800-94998200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr8:94997800-94998200	Enhancers	Pancreas	Pancrea
43	chr8:94997800-94998200	Enhancers	Thymus	Thymus
44	chr8:94997800-94998400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr8:94997800-94998400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr8:94997800-94998400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr8:94997800-94998400	Enhancers	Brain Angular Gyrus	brain
48	chr8:94997800-94998400	Enhancers	Fetal Thymus	thymus
49	chr8:94997800-94998600	Enhancers	NH-A	brain
50	chr8:94997800-94998600	Enhancers	NHEK	skin

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