Variant report

Variant	rs2192010
Chromosome Location	chr2:191462133-191462134
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10188341	0.80[JPT][hapmap]
rs10190082	0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10197348	0.85[JPT][hapmap]
rs10432434	0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10931458	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs1128723	0.93[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11885992	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12052514	0.93[CEU][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12053190	0.93[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12470863	0.98[ASN][1000 genomes]
rs12472081	0.92[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12474531	0.91[ASN][1000 genomes]
rs12476782	0.84[AFR][1000 genomes]
rs12477369	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16832765	0.93[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35818159	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4129082	0.85[JPT][hapmap]
rs4258824	0.93[CEU][hapmap];0.90[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4261750	0.85[JPT][hapmap]
rs4287794	0.82[CEU][hapmap];0.85[JPT][hapmap];0.81[EUR][1000 genomes]
rs4340549	0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs4371384	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4439990	0.93[CEU][hapmap];0.80[CHB][hapmap];0.91[JPT][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4641969	0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs4853510	0.80[ASN][1000 genomes]
rs4853710	0.85[JPT][hapmap]
rs56342910	0.82[EUR][1000 genomes]
rs58568707	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59929070	0.82[EUR][1000 genomes]
rs60847675	0.96[ASN][1000 genomes]
rs60915953	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62181018	0.81[EUR][1000 genomes]
rs62181019	0.81[EUR][1000 genomes]
rs62181020	0.81[EUR][1000 genomes]
rs62181029	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62181034	0.90[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181052	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62182865	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62182885	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182897	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62182899	0.91[ASN][1000 genomes]
rs6711928	0.97[ASN][1000 genomes]
rs6731287	0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs7567059	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7569128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7581762	0.85[JPT][hapmap]
rs7581986	0.85[JPT][hapmap]
rs7608839	0.90[CHB][hapmap];0.86[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
rs2192010	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:191450400-191469000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:191450600-191464400	Weak transcription	Right Atrium	heart
3	chr2:191450600-191467000	Weak transcription	Brain Substantia Nigra	brain
4	chr2:191450600-191467200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr2:191456600-191465000	Weak transcription	Brain Hippocampus Middle	brain
6	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
7	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
8	chr2:191457200-191467000	Weak transcription	Brain Angular Gyrus	brain
9	chr2:191458400-191463600	Weak transcription	Stomach Mucosa	stomach
10	chr2:191458400-191468200	Weak transcription	Left Ventricle	heart
11	chr2:191458800-191463000	Weak transcription	Hela-S3	cervix
12	chr2:191460400-191464400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr2:191461000-191463800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr2:191461200-191464000	Enhancers	NHEK	skin
15	chr2:191461400-191463800	Enhancers	HMEC	breast
16	chr2:191461400-191464000	Enhancers	NHDF-Ad	bronchial
17	chr2:191461400-191464200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:191461400-191464600	Enhancers	Osteobl	bone
19	chr2:191461600-191462400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:191461600-191462400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:191461600-191462600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:191461600-191462600	Enhancers	Fetal Heart	heart
23	chr2:191461600-191464800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr2:191461600-191464800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:191461800-191462400	Enhancers	Brain Anterior Caudate	brain
26	chr2:191461800-191463000	Enhancers	Ovary	ovary
27	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
28	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle

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