Variant report

Variant	rs17217147
Chromosome Location	chr3:160418082-160418083
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	chr3:160411138..160414125-chr3:160416765..160419218,2	K562	blood:
2	chr3:160416444..160418891-chr3:160428224..160429921,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10433459	0.96[CEU][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11707740	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs12638557	0.84[EUR][1000 genomes]
rs13062999	0.82[EUR][1000 genomes]
rs13092981	0.82[EUR][1000 genomes]
rs1378659	0.96[CEU][hapmap];0.87[CHB][hapmap];0.86[CHD][hapmap];0.85[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1378661	0.84[EUR][1000 genomes]
rs1455872	0.85[CEU][hapmap];0.95[GIH][hapmap];0.84[JPT][hapmap];0.83[MEX][hapmap];0.92[TSI][hapmap];0.87[EUR][1000 genomes]
rs16831361	0.85[CEU][hapmap];0.89[JPT][hapmap];0.87[EUR][1000 genomes]
rs2366967	0.84[EUR][1000 genomes]
rs34275580	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35355599	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6441331	0.81[ASN][1000 genomes]
rs6791128	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7633816	0.88[CEU][hapmap];0.82[JPT][hapmap]
rs7649322	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7651855	0.96[CEU][hapmap];0.87[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs7651941	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs7652749	0.85[ASN][1000 genomes]
rs959826	0.82[EUR][1000 genomes]
rs9820796	0.92[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9835634	0.92[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9874183	0.85[ASN][1000 genomes]
rs994966	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532666	chr3:159777847-160703202	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17217147	ARL14	cis	cerebellum	SCAN
rs17217147	PPM1L	cis	cerebellum	SCAN
rs17217147	IFT80	cis	parietal	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:160416600-160419400	Weak transcription	NHLF	lung
2	chr3:160416600-160421800	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr3:160416800-160418800	Enhancers	Hela-S3	cervix
4	chr3:160416800-160421600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:160417000-160421400	Weak transcription	NH-A	brain

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