Variant report

Variant	rs847331
Chromosome Location	chr14:72829075-72829076
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10136263	0.82[ASW][hapmap];0.94[CHD][hapmap];0.81[GIH][hapmap];0.83[LWK][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10141305	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10149207	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1072165	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11620677	0.95[GIH][hapmap]
rs1356842	0.94[CEU][hapmap];0.93[YRI][hapmap];0.84[EUR][1000 genomes]
rs1996661	0.82[ASW][hapmap];0.88[CEU][hapmap];0.82[LWK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.85[EUR][1000 genomes]
rs2090736	0.85[EUR][1000 genomes]
rs2139596	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190509	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2222311	0.81[ASW][hapmap];0.94[CEU][hapmap];0.84[LWK][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.84[EUR][1000 genomes]
rs2238195	0.83[ASW][hapmap];0.82[YRI][hapmap]
rs2238207	0.90[TSI][hapmap]
rs2239246	0.94[CEU][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2529458	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2529459	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2529465	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2529474	0.83[EUR][1000 genomes]
rs2529476	0.85[EUR][1000 genomes]
rs2681724	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681729	0.93[YRI][hapmap]
rs2681732	0.92[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2681739	0.84[EUR][1000 genomes]
rs2681740	0.83[CEU][hapmap];0.89[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs2681750	0.94[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681756	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2681758	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2681760	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2681763	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2681770	0.83[EUR][1000 genomes]
rs4899430	0.93[TSI][hapmap]
rs7151952	0.90[TSI][hapmap]
rs765221	0.88[ASW][hapmap];0.94[CEU][hapmap];0.86[LWK][hapmap];0.80[MKK][hapmap];0.90[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs769148	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs847325	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs847328	1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs847329	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs847330	1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs847334	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs847331	TTC9	cis	parietal	SCAN
rs847331	PI16	trans	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72828000-72831600	Strong transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72829000-72829600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links