Variant report

Variant	rs769148
Chromosome Location	chr14:72832772-72832773
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10129799	0.83[CEU][hapmap]
rs10136263	0.94[CHD][hapmap];0.87[GIH][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149207	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1072165	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1072166	0.83[CEU][hapmap]
rs11620677	0.86[CEU][hapmap];0.89[GIH][hapmap]
rs1402063	0.85[CEU][hapmap]
rs1402064	0.86[CEU][hapmap]
rs2139596	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.88[MKK][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2190509	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2214965	0.87[CEU][hapmap]
rs2239229	0.82[CEU][hapmap]
rs2250666	0.86[CEU][hapmap]
rs2283385	0.83[CEU][hapmap]
rs2529458	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529459	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2529465	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529467	0.87[CEU][hapmap]
rs2681724	0.87[ASN][1000 genomes]
rs2681729	0.86[CEU][hapmap]
rs2681738	0.86[CEU][hapmap]
rs2681749	0.87[CEU][hapmap]
rs2681750	1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2681751	0.87[CEU][hapmap]
rs2681753	0.83[CEU][hapmap]
rs2681756	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2681758	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681760	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681763	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs847328	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs847329	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs847330	0.85[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs847331	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs847334	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[MKK][hapmap];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs769148	NEK9	cis	cerebellum	SCAN
rs769148	C14orf43	cis	cerebellum	SCAN
rs769148	PCNX	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72829600-72834400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72831600-72833200	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links