Variant report

Variant	rs4407383
Chromosome Location	chr3:43467291-43467292
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:43459180..43460847-chr3:43465221..43468188,2	MCF-7	breast:
2	chr3:43460060..43463983-chr3:43465462..43468851,3	K562	blood:

Extended variants
information (count: 50 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1013758	0.89[CEU][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap]
rs1038202	0.82[CEU][hapmap]
rs10461013	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs11130004	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11130005	0.88[CEU][hapmap]
rs11715896	0.82[CEU][hapmap];0.82[EUR][1000 genomes]
rs12486736	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12492694	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs12638282	0.96[CEU][hapmap];0.93[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13066902	0.88[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1351631	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1384435	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1564434	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17030517	0.82[CEU][hapmap]
rs1842806	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1842807	0.89[CEU][hapmap];0.89[EUR][1000 genomes]
rs1975997	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2054554	0.82[CEU][hapmap]
rs2101064	0.92[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3772160	0.89[CEU][hapmap];0.93[GIH][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs3772165	0.82[CEU][hapmap]
rs3772167	0.82[CEU][hapmap]
rs3821381	0.82[CEU][hapmap]
rs4128530	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs4264704	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4505672	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4547674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4561805	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4682690	0.85[CEU][hapmap]
rs61102363	0.86[EUR][1000 genomes]
rs6441786	0.82[CEU][hapmap]
rs6769576	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6793392	0.90[GIH][hapmap]
rs737516	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7616708	0.82[CEU][hapmap]
rs7621271	0.82[CEU][hapmap]
rs7621298	0.93[GIH][hapmap]
rs9311340	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9311341	0.82[CEU][hapmap]
rs9809643	0.89[CEU][hapmap];0.88[GIH][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs9814737	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9815196	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9824990	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9829067	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9830697	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9835793	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9845142	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9862259	0.92[CEU][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs9873316	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9881028	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs4407383	MRPS18A	trans	cerebellum	SCAN
rs4407383	ANO10	cis	Whole Blood	GTEx
rs4407383	SNRK	cis	cerebellum	SCAN
rs4407383	C3orf39	cis	cerebellum	SCAN
rs4407383	RPL14	cis	parietal	SCAN
rs4407383	PTH1R	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43432000-43477800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr3:43436400-43475800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr3:43443000-43495600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:43447800-43481200	Weak transcription	Lung	lung
5	chr3:43449000-43473000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr3:43449000-43474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:43451000-43473000	Weak transcription	Duodenum Mucosa	Duodenum
8	chr3:43455600-43475400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr3:43455600-43484400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:43455800-43473000	Weak transcription	Fetal Stomach	stomach
11	chr3:43455800-43473600	Weak transcription	Brain Anterior Caudate	brain
12	chr3:43455800-43477200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:43457000-43492800	Weak transcription	K562	blood
14	chr3:43459000-43476000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:43459800-43472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:43459800-43496400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr3:43460600-43473000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr3:43460600-43476000	Weak transcription	Spleen	Spleen
19	chr3:43460800-43473000	Weak transcription	Aorta	Aorta
20	chr3:43460800-43496400	Weak transcription	HSMM	muscle
21	chr3:43461000-43474800	Weak transcription	Brain Hippocampus Middle	brain
22	chr3:43461000-43475400	Weak transcription	Fetal Lung	lung
23	chr3:43461200-43476000	Weak transcription	HUVEC	blood vessel
24	chr3:43463000-43472600	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr3:43465000-43467400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:43465000-43475200	Weak transcription	HSMMtube	muscle
27	chr3:43465200-43475600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr3:43465200-43476000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:43465200-43477400	Weak transcription	NHLF	lung
30	chr3:43465400-43467400	Weak transcription	Psoas Muscle	Psoas
31	chr3:43465600-43467600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:43465600-43474800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:43465600-43476200	Weak transcription	NHDF-Ad	bronchial
34	chr3:43465800-43467600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr3:43465800-43468200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:43465800-43473200	Weak transcription	Pancreas	Pancrea
37	chr3:43465800-43476600	Weak transcription	Ovary	ovary
38	chr3:43466000-43467400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:43466000-43474600	Weak transcription	Fetal Intestine Large	intestine
40	chr3:43466400-43472800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:43466600-43467800	Enhancers	Brain Germinal Matrix	brain
42	chr3:43466600-43472600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:43466600-43474000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr3:43466600-43474800	Weak transcription	Right Ventricle	heart
45	chr3:43466600-43475600	Weak transcription	Adipose Nuclei	Adipose
46	chr3:43466600-43496400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:43466800-43468400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr3:43466800-43468600	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr3:43466800-43475600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr3:43467000-43467600	Enhancers	Left Ventricle	heart

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