Variant report

Variant	rs7150531
Chromosome Location	chr14:78251917-78251918
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 108 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1006038	0.90[CHB][hapmap]
rs1006039	0.90[CHB][hapmap]
rs1006040	0.90[CHB][hapmap]
rs1008988	0.95[CHB][hapmap]
rs10134425	0.90[ASN][1000 genomes]
rs10138747	0.98[ASN][1000 genomes]
rs10139492	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10142722	0.90[CHB][hapmap]
rs10143249	0.83[ASN][1000 genomes]
rs10143294	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10144448	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10146255	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1048147	0.90[CHB][hapmap]
rs10483885	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs114763	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11621719	0.83[ASN][1000 genomes]
rs11622761	0.83[ASN][1000 genomes]
rs11624118	0.82[ASN][1000 genomes]
rs11628888	0.85[CHB][hapmap]
rs11846215	0.93[ASN][1000 genomes]
rs12879880	0.89[ASN][1000 genomes]
rs12880300	0.84[CEU][hapmap];0.83[TSI][hapmap];0.83[EUR][1000 genomes]
rs12885306	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.98[GIH][hapmap];0.84[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs12886631	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs12887313	0.98[ASN][1000 genomes]
rs12890728	0.85[CHB][hapmap]
rs12890828	0.91[ASN][1000 genomes]
rs1477262	0.90[CHB][hapmap]
rs1477263	0.96[ASN][1000 genomes]
rs1477264	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17106157	0.90[CHB][hapmap]
rs176941	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs176943	0.90[CHB][hapmap]
rs176946	0.90[CHB][hapmap]
rs176947	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs176948	0.88[ASN][1000 genomes]
rs176951	0.90[CHB][hapmap]
rs176954	0.88[ASN][1000 genomes]
rs176955	0.90[CHB][hapmap]
rs176956	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs176959	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs176961	0.90[ASN][1000 genomes]
rs176963	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs176964	0.90[CHB][hapmap];0.90[ASN][1000 genomes]
rs176965	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs176968	0.90[ASN][1000 genomes]
rs176969	0.90[ASN][1000 genomes]
rs176970	0.90[ASN][1000 genomes]
rs176972	0.89[ASN][1000 genomes]
rs176975	0.90[ASN][1000 genomes]
rs176976	0.90[ASN][1000 genomes]
rs176977	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs176980	0.90[CHB][hapmap]
rs2080703	0.86[ASN][1000 genomes]
rs2267756	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2267759	0.90[CHB][hapmap]
rs2267760	0.90[CHB][hapmap]
rs2267761	0.90[CHB][hapmap]
rs2267762	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2267763	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2267764	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2277917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2284233	0.85[ASN][1000 genomes]
rs2284234	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2284235	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs2299930	0.90[CHB][hapmap]
rs2299931	0.84[CEU][hapmap];0.81[TSI][hapmap]
rs3759728	0.90[CHB][hapmap]
rs3783980	0.90[CHB][hapmap]
rs3783981	0.86[ASN][1000 genomes]
rs3783982	0.86[ASN][1000 genomes]
rs4632066	0.90[CHB][hapmap]
rs4641655	0.98[ASN][1000 genomes]
rs4899670	1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4899673	0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4899674	0.92[ASN][1000 genomes]
rs4903624	0.80[CEU][hapmap]
rs4903638	0.96[ASN][1000 genomes]
rs6574392	0.93[ASN][1000 genomes]
rs6574394	0.93[ASN][1000 genomes]
rs6574399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6574404	0.86[CHB][hapmap]
rs7142390	0.90[CHB][hapmap]
rs7143926	1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs7145717	0.96[ASN][1000 genomes]
rs7145979	0.80[CEU][hapmap]
rs7148078	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148126	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7151685	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7154571	0.87[ASN][1000 genomes]
rs7160355	0.92[ASN][1000 genomes]
rs717682	0.99[ASN][1000 genomes]
rs759713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8003691	0.90[CHB][hapmap]
rs8010541	0.93[ASN][1000 genomes]
rs8011337	0.90[CHB][hapmap]
rs8015645	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs8016447	0.90[CHB][hapmap]
rs8022516	0.92[ASN][1000 genomes]
rs9323649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs9323650	0.90[CHB][hapmap]
rs9323651	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
5	esv3512735	chr14:78248572-78253007	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3512736	chr14:78248572-78253007	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7150531	RPS6KL1	cis	cerebellum	SCAN
rs7150531	ALDH6A1	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78248800-78252000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr14:78251800-78252800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:78251800-78253000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:78251800-78253000	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links