Variant report

Variant	rs1153858
Chromosome Location	chr15:45652703-45652704
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	chr15:45645298..45648263-chr15:45650931..45653328,2	K562	blood:

Variant related genes	Relation type
ENSG00000238941	Chromatin interaction

Extended variants
information (count: 167 )
Associated
traits (count: 22 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs10444821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049503	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1049508	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519018	0.80[MEX][hapmap]
rs10519021	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10519022	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1060896	0.80[MEX][hapmap]
rs11070453	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11070454	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070456	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11070457	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145074	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1145076	0.84[MEX][hapmap]
rs1145077	0.84[MEX][hapmap]
rs1145078	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145079	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145081	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1145085	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1145091	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1153845	0.80[MEX][hapmap]
rs1153847	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1153849	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1153854	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11632752	0.80[MEX][hapmap]
rs11632778	0.80[MEX][hapmap]
rs11632920	0.83[MEX][hapmap]
rs11637920	0.80[MEX][hapmap]
rs11639420	0.84[MEX][hapmap]
rs11852800	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855527	0.84[AMR][1000 genomes]
rs11858495	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12101539	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437887	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12439274	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12439575	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12440038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12441971	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591058	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593230	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593370	0.93[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12593371	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12593402	0.81[CEU][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594857	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595087	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12595153	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1288775	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12904150	0.80[MEX][hapmap]
rs12908818	0.84[MEX][hapmap]
rs12909158	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12913645	0.93[JPT][hapmap];0.88[MEX][hapmap]
rs1346266	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1346267	0.84[MEX][hapmap]
rs1346268	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1365610	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap]
rs1554521	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1613559	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1618874	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1648302	0.86[JPT][hapmap]
rs16941017	0.86[JPT][hapmap]
rs16942000	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16942568	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16943246	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1706824	0.93[JPT][hapmap];0.88[MEX][hapmap]
rs1719231	0.85[CEU][hapmap]
rs1719247	0.93[CEU][hapmap];0.92[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];0.87[TSI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1719250	0.83[MEX][hapmap]
rs1820518	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1890565	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1974981	0.87[EUR][1000 genomes]
rs1980288	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2056493	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2066090	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114501	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2172874	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2413768	0.84[MEX][hapmap]
rs2413769	0.93[JPT][hapmap];0.88[MEX][hapmap]
rs2413772	0.80[MEX][hapmap]
rs2413774	0.80[MEX][hapmap]
rs2413775	0.85[JPT][hapmap]
rs2433228	0.86[JPT][hapmap]
rs2433229	0.85[JPT][hapmap]
rs2433611	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2453541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2461701	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2461702	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2467854	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467858	0.93[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2467864	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2486272	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2668747	0.93[CEU][hapmap];0.92[YRI][hapmap];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28569043	0.88[EUR][1000 genomes]
rs28605551	0.88[EUR][1000 genomes]
rs28679834	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759895	0.86[JPT][hapmap]
rs3759899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4271549	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4395020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4534782	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4572329	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4625670	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4627277	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774550	0.86[JPT][hapmap]
rs4774577	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774578	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774579	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4774580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775895	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4775906	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775907	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4775909	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775911	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4775937	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55885762	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56669689	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56806728	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56850226	0.87[EUR][1000 genomes]
rs59889118	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60476496	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61365925	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524473	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6493144	0.83[MEX][hapmap]
rs66528868	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66714503	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66939267	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67045941	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67461176	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67744121	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67831559	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68087211	1.00[ASN][1000 genomes]
rs7163720	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7164139	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7167146	0.83[MEX][hapmap]
rs7167900	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7168414	0.89[EUR][1000 genomes]
rs7169587	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7169818	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7171163	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7171577	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7179743	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181167	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7182300	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7182723	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7183946	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72623915	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7402632	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7402650	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7494956	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8024620	0.83[MEX][hapmap]
rs8032904	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8038342	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8039354	0.80[MEX][hapmap]
rs8039476	0.83[AMR][1000 genomes]
rs8042786	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs872192	0.84[MEX][hapmap]
rs9783731	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788780	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806699	0.81[CEU][hapmap];0.86[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv469721	chr15:45608881-45788002	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
6	nsv482380	chr15:45608881-45788002	Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv991241	chr15:45651729-45652944	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

Variant related diseases (count:1)

Disease	PMID	Source
Homoarginine levels	24047826	GWAS catalog

mRNA abundance (count:21)

SNP	Gene	Cis/trans	Tissue	Source
rs1153858	SPATA5L1	cis	Adipose Subcutaneous	GTEx
rs1153858	CTD-2651B20.3	cis	Muscle Skeletal	GTEx
rs1153858	SPATA5L1	cis	parietal	SCAN
rs1153858	CTD-2651B20.3	cis	Esophagus Muscularis	GTEx
rs1153858	CTD-2651B20.3	cis	Adipose Subcutaneous	GTEx
rs1153858	CTD-2651B20.4	cis	Nerve Tibial	GTEx
rs1153858	CTD-2651B20.3	cis	Nerve Tibial	GTEx
rs1153858	BMF	cis	parietal	SCAN
rs1153858	CTD-2651B20.3	cis	Thyroid	GTEx
rs1153858	CTD-2651B20.3	cis	Artery Tibial	GTEx
rs1153858	SP4	trans	parietal	SCAN
rs1153858	GATM	cis	cerebellum	SCAN
rs1153858	SPATA5L1	cis	Whole Blood	GTEx
rs1153858	GATM	cis	Muscle Skeletal	GTEx
rs1153858	GATM	cis	multi-tissue	Pritchard
rs1153858	CTD-2651B20.3	cis	lung	GTEx
rs1153858	SHF	cis	parietal	SCAN
rs1153858	SPATA5L1	cis	cerebellum	SCAN
rs1153858	SPATA5L1	cis	multi-tissue	Pritchard
rs1153858	CTD-2651B20.4	cis	Artery Tibial	GTEx
rs1153858	SPATA5L1	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45639200-45664200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:45639600-45661800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr15:45640600-45664200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:45640800-45664200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr15:45641200-45656400	Weak transcription	Gastric	stomach
6	chr15:45642600-45655600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr15:45647600-45657800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:45647800-45661600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr15:45648200-45668600	Weak transcription	Colonic Mucosa	Colon
10	chr15:45648400-45654200	Weak transcription	Brain Angular Gyrus	brain
11	chr15:45648400-45664000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr15:45649600-45656400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr15:45650000-45654000	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:45650000-45657800	Strong transcription	Brain Anterior Caudate	brain
15	chr15:45650000-45659000	Strong transcription	Duodenum Smooth Muscle	Duodenum
16	chr15:45650000-45664200	Weak transcription	HSMMtube	muscle
17	chr15:45650200-45656400	Weak transcription	Brain Germinal Matrix	brain
18	chr15:45650200-45657600	Weak transcription	Aorta	Aorta
19	chr15:45650400-45653200	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:45650600-45653000	Strong transcription	Pancreas	Pancrea
21	chr15:45650600-45654800	Weak transcription	Fetal Stomach	stomach
22	chr15:45650600-45668000	Weak transcription	Right Ventricle	heart
23	chr15:45650800-45662000	Strong transcription	Stomach Smooth Muscle	stomach
24	chr15:45651000-45653000	Strong transcription	Fetal Muscle Leg	muscle
25	chr15:45651400-45653400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:45651400-45653600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr15:45651400-45656400	Strong transcription	Brain Cingulate Gyrus	brain
28	chr15:45651400-45656400	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr15:45651400-45656400	Strong transcription	Psoas Muscle	Psoas
30	chr15:45651600-45653000	Strong transcription	GM12878-XiMat	blood
31	chr15:45651600-45653200	Strong transcription	Adipose Nuclei	Adipose
32	chr15:45651600-45653200	Strong transcription	Left Ventricle	heart
33	chr15:45651600-45656400	Strong transcription	Brain Hippocampus Middle	brain
34	chr15:45651600-45656400	Strong transcription	Ovary	ovary
35	chr15:45651600-45662000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr15:45651600-45665600	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:45651800-45653200	Genic enhancers	Liver	Liver
38	chr15:45651800-45661000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr15:45652000-45653000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr15:45652000-45654200	Weak transcription	Fetal Intestine Small	intestine
41	chr15:45652000-45656000	Strong transcription	Brain Substantia Nigra	brain
42	chr15:45652000-45658400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr15:45652000-45664400	Weak transcription	HSMM	muscle
44	chr15:45652200-45653000	Strong transcription	Placenta	Placenta
45	chr15:45652200-45659400	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:45652400-45658400	Strong transcription	Colon Smooth Muscle	Colon
47	chr15:45652400-45663600	Weak transcription	Small Intestine	intestine
48	chr15:45652600-45652800	Weak transcription	Fetal Intestine Large	intestine
49	chr15:45652600-45653400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:45652600-45668800	Weak transcription	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links