Variant report

Variant	rs2762123
Chromosome Location	chr13:94083959-94083960
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1330496	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1373834	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1445274	0.81[ASN][1000 genomes]
rs1900046	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2590505	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2590506	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2590507	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2590556	0.85[ASN][1000 genomes]
rs2762089	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2813622	0.90[ASN][1000 genomes]
rs2813629	0.82[ASN][1000 genomes]
rs2813634	0.81[ASN][1000 genomes]
rs2999499	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4412846	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7317616	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7323827	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7985920	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7992272	0.82[ASN][1000 genomes]
rs920956	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9301882	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9516233	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9516234	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9524068	0.85[ASN][1000 genomes]
rs9524069	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9524071	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9556294	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs973303	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

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	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
6	nsv1048843	chr13:94064931-94103524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
7	nsv562749	chr13:94083352-94263206	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94073400-94086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:94078400-94087400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:94081000-94090800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr13:94082400-94084400	Enhancers	Fetal Lung	lung
5	chr13:94082800-94085600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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