Variant report

Variant	rs8001600
Chromosome Location	chr13:94041035-94041036
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11617476	1.00[JPT][hapmap]
rs1323971	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1323975	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1323988	1.00[JPT][hapmap]
rs1373835	1.00[JPT][hapmap]
rs1408209	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1408219	1.00[JPT][hapmap]
rs2762095	1.00[JPT][hapmap]
rs2762097	1.00[JPT][hapmap]
rs2762100	1.00[JPT][hapmap]
rs2762104	0.85[ASN][1000 genomes]
rs2762105	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2762106	1.00[JPT][hapmap]
rs2762107	1.00[JPT][hapmap]
rs2762109	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2762110	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.90[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2762111	1.00[CEU][hapmap];0.82[CHB][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.90[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2762114	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2762116	1.00[CEU][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2762117	1.00[CEU][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2762119	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813596	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813608	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2813609	1.00[JPT][hapmap]
rs2813610	1.00[JPT][hapmap]
rs2813615	1.00[JPT][hapmap]
rs4142601	1.00[JPT][hapmap]
rs4771874	0.91[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4773741	1.00[JPT][hapmap]
rs4773742	1.00[JPT][hapmap]
rs66460753	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7324202	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs7336981	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338959	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7982827	1.00[JPT][hapmap]
rs7992272	0.85[TSI][hapmap];0.80[EUR][1000 genomes]
rs7992679	1.00[JPT][hapmap]
rs9301876	0.86[CEU][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9524017	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs9524021	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9524026	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9524027	0.91[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9524068	0.81[EUR][1000 genomes]
rs9561321	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs995811	0.89[CHD][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869070	chr13:93347616-94286933	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1053035	chr13:93842576-94229732	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541880	chr13:93842576-94229732	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv530636	chr13:93997311-94281707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv916039	chr13:94035909-94191105	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94008800-94042400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:94039400-94042200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:94040800-94041400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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