Variant report

Variant	rs10411264
Chromosome Location	chr19:41394336-41394337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr19:41394085-41394455	K562	blood:	n/a	n/a
2	ZNF384	chr19:41394098-41394370	K562	blood:	n/a	n/a
3	MAFK	chr19:41394224-41394447	K562	blood:	n/a	n/a
4	MAFF	chr19:41394255-41394444	K562	blood:	n/a	n/a

Variant related genes	Relation type
CYP2G1P	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10406188	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410750	0.92[ASN][1000 genomes]
rs10411877	0.83[ASN][1000 genomes]
rs10414481	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10416968	0.93[ASN][1000 genomes]
rs10418318	0.98[ASN][1000 genomes]
rs10419393	0.91[CHB][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10421888	0.97[ASN][1000 genomes]
rs10423165	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10424691	0.81[ASN][1000 genomes]
rs10424834	0.85[ASN][1000 genomes]
rs10425176	0.95[CHB][hapmap];0.88[JPT][hapmap]
rs11083577	0.87[ASN][1000 genomes]
rs11083580	0.90[ASN][1000 genomes]
rs11083582	0.98[ASN][1000 genomes]
rs11665969	0.97[ASN][1000 genomes]
rs11669113	0.81[ASN][1000 genomes]
rs12973598	0.86[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs12975382	0.85[ASN][1000 genomes]
rs12982395	0.93[ASN][1000 genomes]
rs2316213	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2316215	0.84[ASN][1000 genomes]
rs2644904	0.90[ASN][1000 genomes]
rs28427254	0.81[ASN][1000 genomes]
rs28472879	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28503746	0.96[ASN][1000 genomes]
rs28619553	0.93[ASN][1000 genomes]
rs2935235	0.92[ASN][1000 genomes]
rs3797218	0.93[ASN][1000 genomes]
rs3815714	0.90[ASN][1000 genomes]
rs3852870	0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3865457	0.84[JPT][hapmap];0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3869579	0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs3875159	0.95[CHB][hapmap];0.98[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs3909341	0.97[ASN][1000 genomes]
rs3909342	0.98[ASN][1000 genomes]
rs4105141	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4105142	0.97[ASN][1000 genomes]
rs4105143	0.95[ASN][1000 genomes]
rs4142867	0.93[ASN][1000 genomes]
rs4802095	0.86[CHB][hapmap];0.80[JPT][hapmap];0.89[ASN][1000 genomes]
rs4803389	0.93[ASN][1000 genomes]
rs4803390	0.89[ASN][1000 genomes]
rs4803391	0.92[ASN][1000 genomes]
rs4803393	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs4803400	0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs5007415	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[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];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56081734	0.93[ASN][1000 genomes]
rs61482096	0.87[ASN][1000 genomes]
rs6508953	0.82[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs67421541	0.98[ASN][1000 genomes]
rs7252852	0.91[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7254188	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7258590	0.84[ASN][1000 genomes]
rs7258728	0.88[ASN][1000 genomes]
rs7343061	0.92[ASN][1000 genomes]
rs8103288	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2760509	chr19:41325004-41394336	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1056244	chr19:41329218-41397661	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	esv1827726	chr19:41329872-41395056	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	esv1832156	chr19:41332004-41399077	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv9729	chr19:41337805-41394407	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1065886	chr19:41339857-41397661	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	esv33053	chr19:41340629-41400635	Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	esv1827139	chr19:41348820-41395889	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv1056284	chr19:41360131-41399887	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	nsv1055263	chr19:41360358-41397661	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	esv3337314	chr19:41388910-41534583	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10411264	CYP2G1P	cis	lung	GTEx
rs10411264	HSD17B14	cis	cerebellum	SCAN
rs10411264	SLC17A7	cis	parietal	SCAN
rs10411264	KPTN	cis	parietal	SCAN
rs10411264	CABP5	cis	cerebellum	SCAN
rs10411264	RELB	cis	parietal	SCAN
rs10411264	ZNF541	cis	cerebellum	SCAN
rs10411264	PTH2	cis	parietal	SCAN
rs10411264	NANOS2	cis	parietal	SCAN
rs10411264	APOC4	cis	cerebellum	SCAN
rs10411264	PRKD2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41392800-41394400	Enhancers	A549	lung
2	chr19:41393200-41397600	Weak transcription	Ovary	ovary
3	chr19:41394000-41395200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:41394200-41394600	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links