Variant report

Variant	rs12470863
Chromosome Location	chr2:191457506-191457507
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	chr2:191450640..191452200-chr2:191456453..191459189,2	MCF-7	breast:
2	chr2:191454528..191456275-chr2:191456958..191459921,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10084203	0.81[EUR][1000 genomes]
rs10174174	0.81[EUR][1000 genomes]
rs10188341	0.80[JPT][hapmap]
rs10190082	0.91[CEU][hapmap];0.95[JPT][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10197348	0.85[JPT][hapmap]
rs10432434	0.80[ASN][1000 genomes]
rs10931458	0.90[CEU][hapmap];0.90[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1128723	0.90[JPT][hapmap]
rs12052514	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs12053190	0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12472081	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12474531	0.89[ASN][1000 genomes]
rs12477369	0.98[ASN][1000 genomes]
rs12693579	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16832765	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2192010	0.98[ASN][1000 genomes]
rs35818159	0.83[ASN][1000 genomes]
rs4129082	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs4258824	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4261750	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs4287794	0.85[JPT][hapmap]
rs4340549	0.85[CEU][hapmap];0.90[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4371384	0.85[ASN][1000 genomes]
rs4439990	0.80[CHB][hapmap];0.91[JPT][hapmap];0.82[ASN][1000 genomes]
rs4641969	0.91[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4853510	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4853710	0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs4853716	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58568707	0.96[ASN][1000 genomes]
rs60847675	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60915953	0.80[ASN][1000 genomes]
rs62182865	0.85[ASN][1000 genomes]
rs62182885	0.97[ASN][1000 genomes]
rs62182897	0.97[ASN][1000 genomes]
rs62182899	0.89[ASN][1000 genomes]
rs6711928	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6712426	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6727669	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6731287	0.85[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7567059	0.80[ASN][1000 genomes]
rs7569128	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7581762	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs7581986	0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs7593240	0.81[EUR][1000 genomes]
rs7608839	0.90[CHB][hapmap];0.84[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	nsv834492	chr2:191438864-191646621	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12470863	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191448800-191461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:191449000-191457800	Weak transcription	Hela-S3	cervix
3	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
5	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
6	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:191452200-191458000	Weak transcription	Left Ventricle	heart
8	chr2:191454000-191457800	Weak transcription	K562	blood
9	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
11	chr2:191457000-191458800	Enhancers	NHDF-Ad	bronchial
12	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
13	chr2:191457200-191458400	Enhancers	Osteobl	bone
14	chr2:191457200-191458800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:191457200-191461000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain

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