Variant report

Variant	rs156711
Chromosome Location	chr2:114757932-114757933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10183875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10197726	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1060906	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11123212	1.00[YRI][hapmap]
rs156703	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156704	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156705	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs156709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs156710	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs156712	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs156714	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269836	0.93[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs275416	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs276317	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs276818	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs276820	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs276827	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs418603	0.87[EUR][1000 genomes]
rs467954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55701938	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55748015	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6542185	1.00[YRI][hapmap]
rs6542187	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6705036	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6705687	1.00[YRI][hapmap]
rs72837203	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs904498	1.00[YRI][hapmap]

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	nsv874904	chr2:114751691-115605062	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs156711	NPHP1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114736200-114761000	Weak transcription	HSMMtube	muscle
2	chr2:114741200-114761000	Weak transcription	HSMM	muscle
3	chr2:114755200-114758000	Weak transcription	HepG2	liver
4	chr2:114755600-114768000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:114756800-114758200	Enhancers	Brain Germinal Matrix	brain
6	chr2:114757200-114758800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:114757600-114758000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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