Variant report

Variant	rs11595422
Chromosome Location	chr10:96640715-96640716
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1010570	0.95[JPT][hapmap]
rs10736086	0.81[CHD][hapmap];0.95[JPT][hapmap]
rs10882498	0.84[ASN][1000 genomes]
rs11188093	0.84[ASN][1000 genomes]
rs11188105	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11498525	0.84[ASN][1000 genomes]
rs1200313	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12772884	0.89[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1322181	0.83[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.85[MKK][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs1555474	0.82[ASW][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs1575934	0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[YRI][hapmap]
rs1853208	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1856908	0.82[CHB][hapmap];0.83[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap]
rs1934960	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1934964	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1934965	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1934969	0.90[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap]
rs1998321	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2104161	0.90[CHB][hapmap];0.86[JPT][hapmap];0.88[YRI][hapmap]
rs2104162	0.92[ASN][1000 genomes]
rs2253635	0.82[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap]
rs2281889	0.83[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.88[YRI][hapmap]
rs2860906	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2901783	0.85[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap]
rs34234478	0.86[ASN][1000 genomes]
rs35013847	0.89[ASN][1000 genomes]
rs3740504	0.81[ASN][1000 genomes]
rs4110516	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4362080	0.88[CHB][hapmap];0.88[JPT][hapmap]
rs4466755	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4608002	0.92[ASN][1000 genomes]
rs4617515	0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs4638239	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4917623	0.82[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs4918758	0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs4918766	0.89[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap]
rs6583963	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7073165	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7078102	0.81[ASN][1000 genomes]
rs7079343	0.87[ASN][1000 genomes]
rs7083767	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7084717	0.84[ASN][1000 genomes]
rs7475054	0.83[ASN][1000 genomes]
rs7895223	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7895963	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7899661	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7912502	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7914753	0.83[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.80[MKK][hapmap];0.88[YRI][hapmap]
rs7915414	0.85[CHB][hapmap];0.80[CHD][hapmap];0.95[JPT][hapmap]
rs7916649	0.83[ASW][hapmap];0.95[CHB][hapmap];0.91[CHD][hapmap];0.95[JPT][hapmap];0.86[MKK][hapmap];0.88[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497859	chr10:96058024-97027747	Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3380017	chr10:96439904-96662339	Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3344949	chr10:96443874-96666028	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv551955	chr10:96444249-96690371	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1035409	chr10:96495177-96832057	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	esv3529538	chr10:96522848-96700018	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3529539	chr10:96522848-96700018	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3361914	chr10:96522865-96700024	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv523259	chr10:96534584-96693727	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1052578	chr10:96538082-96641949	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv3336672	chr10:96543010-96711519	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1037973	chr10:96563228-96711744	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv1047782	chr10:96581094-96718479	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1818389	chr10:96620304-96675513	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv529726	chr10:96632494-97106315	Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11595422	PPP1R3C	cis	parietal	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96619200-96652200	Weak transcription	Duodenum Mucosa	Duodenum
2	chr10:96623000-96649600	Weak transcription	Fetal Intestine Large	intestine
3	chr10:96639000-96641800	Weak transcription	Liver	Liver
4	chr10:96639800-96644000	Weak transcription	Gastric	stomach
5	chr10:96639800-96649600	Weak transcription	Fetal Intestine Small	intestine
6	chr10:96640400-96642400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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