Variant report

Variant	rs4918758
Chromosome Location	chr10:96697252-96697253
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	CEBPB	chr10:96697192-96697397	IMR90	lung:	n/a	n/a
2	CEBPB	chr10:96697196-96697461	A549	lung:	n/a	n/a

Variant related genes	Relation type
CYP2C9	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1200313	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12772675	0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12772884	0.90[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs1322181	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1505	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1555474	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs1853208	0.81[ASN][1000 genomes]
rs1856908	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs1934960	0.90[ASN][1000 genomes]
rs1934964	0.92[ASN][1000 genomes]
rs1934965	0.92[ASN][1000 genomes]
rs1934969	0.84[CHB][hapmap];0.95[JPT][hapmap]
rs1998321	0.81[ASN][1000 genomes]
rs2096069	0.81[ASN][1000 genomes]
rs2104161	0.86[JPT][hapmap]
rs2104162	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2253635	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs28371677	0.83[AFR][1000 genomes]
rs2860905	0.80[ASW][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes]
rs2860906	0.92[ASN][1000 genomes]
rs34234478	0.83[ASN][1000 genomes]
rs35013847	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35687798	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3740504	0.85[ASN][1000 genomes]
rs4362080	0.88[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap]
rs4608002	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4617515	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs4917623	0.95[JPT][hapmap]
rs4917641	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4918766	0.93[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];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6583963	0.83[ASN][1000 genomes]
rs7073165	0.92[ASN][1000 genomes]
rs7083767	0.91[ASN][1000 genomes]
rs7475054	0.90[ASN][1000 genomes]
rs7903917	0.82[ASN][1000 genomes]
rs7906871	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7915414	0.90[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.80[YRI][hapmap]
rs7916649	0.80[CHB][hapmap];0.95[JPT][hapmap]
rs9332172	0.80[ASW][hapmap];0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv551962	chr10:96680265-96734339	Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4918758	PPP1R3C	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96695600-96697400	Enhancers	Fetal Intestine Small	intestine
2	chr10:96696800-96697400	Flanking Active TSS	Liver	Liver

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