Variant report

Variant	rs11165285
Chromosome Location	chr1:95471456-95471457
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	chr1:95470913..95473220-chr1:95474756..95477083,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10747462	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874900	0.81[CHB][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10874901	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.91[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165290	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11165291	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11165292	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11165296	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11165301	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11810584	0.85[JPT][hapmap]
rs12022525	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes]
rs12036045	0.94[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12060761	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12082888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12120694	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12137144	0.94[CEU][hapmap]
rs12402604	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12408845	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12717801	0.84[JPT][hapmap]
rs12724815	0.86[JPT][hapmap]
rs17100482	0.88[EUR][1000 genomes]
rs17112867	1.00[CEU][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3890845	0.86[JPT][hapmap]
rs4427415	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4950059	0.86[JPT][hapmap]
rs57001838	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6669249	0.82[ASW][hapmap];0.90[JPT][hapmap]
rs7526765	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7539517	0.94[EUR][1000 genomes]
rs7540080	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7551774	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11165285	FNBP1L	cis	cerebellum	SCAN
rs11165285	GFI1	cis	parietal	SCAN
rs11165285	PTBP2	cis	parietal	SCAN
rs11165285	C1orf146	cis	cerebellum	SCAN
rs11165285	FNBP1L	cis	parietal	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95447000-95490800	Weak transcription	Fetal Intestine Large	intestine
2	chr1:95448200-95491000	Weak transcription	Primary B cells from cord blood	blood
3	chr1:95455200-95473600	Weak transcription	Gastric	stomach
4	chr1:95459600-95473000	Weak transcription	Aorta	Aorta
5	chr1:95459600-95473000	Weak transcription	Pancreas	Pancrea
6	chr1:95460400-95478400	Weak transcription	Left Ventricle	heart
7	chr1:95464000-95473000	Weak transcription	Lung	lung
8	chr1:95468000-95472200	Weak transcription	Placenta	Placenta
9	chr1:95468000-95472800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr1:95468600-95482400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:95468800-95472000	Weak transcription	HSMMtube	muscle
12	chr1:95468800-95472800	Weak transcription	HMEC	breast
13	chr1:95468800-95473000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:95468800-95473200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:95468800-95479600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:95469000-95472000	Weak transcription	Fetal Kidney	kidney
17	chr1:95469000-95472000	Weak transcription	Fetal Stomach	stomach
18	chr1:95469000-95472200	Weak transcription	HSMM	muscle
19	chr1:95469000-95472800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr1:95469000-95479600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:95469200-95472000	Weak transcription	Fetal Lung	lung
22	chr1:95469200-95472800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr1:95469200-95478000	Weak transcription	Ovary	ovary
24	chr1:95469200-95479600	Weak transcription	Fetal Intestine Small	intestine
25	chr1:95469200-95487200	Weak transcription	Small Intestine	intestine
26	chr1:95469400-95472200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:95469400-95472200	Weak transcription	NHLF	lung
28	chr1:95469400-95472600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:95469400-95478800	Weak transcription	HepG2	liver
30	chr1:95469600-95477800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:95469600-95477800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:95469800-95472200	Weak transcription	NHEK	skin
33	chr1:95470600-95473600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:95470800-95471800	Enhancers	K562	blood
35	chr1:95470800-95472400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:95471400-95471800	Weak transcription	Fetal Muscle Leg	muscle

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