Variant report

Variant	rs16832765
Chromosome Location	chr2:191468762-191468763
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	chr2:191464759..191466338-chr2:191468193..191471068,2	K562	blood:
2	chr2:191398124..191401338-chr2:191468460..191472195,4	K562	blood:

Variant related genes	Relation type
ENSG00000233654	Chromatin interaction
ENSG00000189362	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10188341	0.80[JPT][hapmap]
rs10190082	0.95[JPT][hapmap]
rs10197348	0.85[JPT][hapmap]
rs10432434	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10931458	0.90[JPT][hapmap]
rs1128723	0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11885992	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12052514	0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12053190	0.81[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12470863	0.97[ASN][1000 genomes]
rs12472081	0.92[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12474531	0.92[ASN][1000 genomes]
rs12476782	1.00[YRI][hapmap];0.96[AFR][1000 genomes]
rs12477369	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2192010	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35818159	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4129082	0.86[JPT][hapmap]
rs4258824	0.90[JPT][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4261750	0.85[JPT][hapmap]
rs4287794	0.85[JPT][hapmap]
rs4340549	0.90[JPT][hapmap]
rs4371384	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4439990	0.81[CEU][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4641969	0.91[JPT][hapmap]
rs4853710	0.85[JPT][hapmap]
rs58568707	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60847675	0.95[ASN][1000 genomes]
rs60915953	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62181016	0.83[EUR][1000 genomes]
rs62181029	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs62181034	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62181052	0.87[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs62182865	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62182885	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62182897	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62182899	0.87[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs6711928	0.97[ASN][1000 genomes]
rs6731287	0.91[JPT][hapmap]
rs7567059	0.81[ASN][1000 genomes]
rs7569128	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7581762	0.85[JPT][hapmap]
rs7581986	0.85[JPT][hapmap]
rs7608839	0.95[CHB][hapmap];0.87[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
rs16832765	INPP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:23 , 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	chr2:191456600-191491800	Weak transcription	Aorta	Aorta
3	chr2:191457000-191471600	Weak transcription	Psoas Muscle	Psoas
4	chr2:191462000-191471600	Weak transcription	Fetal Lung	lung
5	chr2:191462000-191471600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:191463600-191468800	Weak transcription	Brain Anterior Caudate	brain
7	chr2:191463800-191470600	Weak transcription	HMEC	breast
8	chr2:191464800-191471600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:191464800-191471800	Weak transcription	Right Atrium	heart
10	chr2:191464800-191472000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:191465000-191471800	Weak transcription	Right Ventricle	heart
12	chr2:191465400-191468800	Weak transcription	Hela-S3	cervix
13	chr2:191465400-191470000	Weak transcription	Primary T cells from cord blood	blood
14	chr2:191465600-191471600	Weak transcription	HSMMtube	muscle
15	chr2:191467000-191469600	Enhancers	Brain Angular Gyrus	brain
16	chr2:191467200-191469400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr2:191467200-191470000	Enhancers	Brain Cingulate Gyrus	brain
18	chr2:191467200-191470000	Enhancers	Brain Hippocampus Middle	brain
19	chr2:191467400-191469400	Enhancers	A549	lung
20	chr2:191467800-191468800	Weak transcription	Brain Substantia Nigra	brain
21	chr2:191468000-191473200	Enhancers	Fetal Heart	heart
22	chr2:191468200-191471600	Weak transcription	NHLF	lung
23	chr2:191468400-191471200	Weak transcription	Left Ventricle	heart

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