Variant report

Variant	rs11747317
Chromosome Location	chr5:73969653-73969654
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	chr5:73968225..73971112-chr5:73973488..73976087,2	K562	blood:
2	chr5:73969331..73972056-chr5:73981357..73983781,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10515187	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10805890	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs10942717	0.86[CEU][hapmap];0.89[JPT][hapmap]
rs11738805	0.89[ASN][1000 genomes]
rs11747100	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11749103	0.87[ASN][1000 genomes]
rs12233980	0.86[CEU][hapmap];0.94[JPT][hapmap]
rs12233981	0.86[CEU][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap]
rs16872198	0.83[ASN][1000 genomes]
rs17670514	0.86[CEU][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs3776481	0.81[ASN][1000 genomes]
rs3894712	0.86[CEU][hapmap];0.86[CHD][hapmap];0.87[JPT][hapmap];0.82[TSI][hapmap]
rs4460123	0.86[CEU][hapmap];0.84[CHD][hapmap];0.88[JPT][hapmap];0.85[MEX][hapmap];0.82[TSI][hapmap];0.86[ASN][1000 genomes]
rs6898989	0.92[CEU][hapmap];0.85[CHB][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs7445920	0.93[CEU][hapmap];0.86[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11747317	NSA2	cis	cerebellum	SCAN
rs11747317	MAP1B	cis	parietal	SCAN
rs11747317	BTF3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:73948600-73971400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:73966600-73974600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:73966800-73980200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr5:73966800-73980600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:73968200-73969800	Enhancers	Fetal Heart	heart
6	chr5:73968400-73969800	Enhancers	Fetal Brain Male	brain
7	chr5:73968600-73971400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:73968600-73971800	Enhancers	HepG2	liver
9	chr5:73969000-73969800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr5:73969000-73969800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr5:73969000-73969800	Flanking Active TSS	Adipose Nuclei	Adipose
12	chr5:73969000-73969800	Active TSS	Brain Anterior Caudate	brain
13	chr5:73969000-73969800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr5:73969000-73969800	Enhancers	Placenta	Placenta
15	chr5:73969000-73969800	Enhancers	HMEC	breast
16	chr5:73969000-73969800	Enhancers	HSMM	muscle
17	chr5:73969000-73969800	Enhancers	NH-A	brain
18	chr5:73969000-73969800	Enhancers	NHEK	skin
19	chr5:73969200-73969800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:73969200-73969800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:73969200-73969800	Flanking Active TSS	Brain Angular Gyrus	brain
22	chr5:73969400-73969800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:73969400-73969800	Enhancers	Ovary	ovary
24	chr5:73969400-73969800	Enhancers	Right Atrium	heart
25	chr5:73969400-73969800	Enhancers	NHLF	lung
26	chr5:73969400-73971400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:73969400-73972400	Weak transcription	Hela-S3	cervix
28	chr5:73969600-73969800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:73969600-73969800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:73969600-73969800	Active TSS	Brain Cingulate Gyrus	brain
31	chr5:73969600-73969800	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr5:73969600-73969800	Enhancers	Brain Substantia Nigra	brain
33	chr5:73969600-73969800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:73969600-73969800	Enhancers	HSMMtube	muscle
35	chr5:73969600-73970000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:73969600-73970400	Enhancers	Pancreas	Pancrea
37	chr5:73969600-73973200	Weak transcription	Osteobl	bone
38	chr5:73969600-73975400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:73969600-73975800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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