Variant report

Variant	rs7997987
Chromosome Location	chr13:94075239-94075240
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17234467	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs2813637	0.92[ASN][1000 genomes]
rs57159809	0.81[ASN][1000 genomes]
rs73552642	1.00[AMR][1000 genomes]
rs7983734	1.00[AMR][1000 genomes]
rs9301878	0.83[GIH][hapmap];0.94[JPT][hapmap]
rs9301879	0.83[GIH][hapmap];0.94[JPT][hapmap]
rs9556288	0.83[GIH][hapmap]
rs9556290	0.93[ASN][1000 genomes]
rs9556295	0.92[ASN][1000 genomes]
rs9556298	0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9556302	0.83[CHD][hapmap]
rs9561338	0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs9561341	1.00[CHB][hapmap];0.88[JPT][hapmap];0.96[ASN][1000 genomes]
rs9561343	0.97[ASN][1000 genomes]
rs9561349	0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs9561356	0.84[CHB][hapmap]
rs9561361	0.83[CHD][hapmap];1.00[AMR][1000 genomes]
rs9561374	0.80[CHD][hapmap]
rs9561376	1.00[AMR][1000 genomes]
rs970263	0.86[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:94058600-94077600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr13:94067000-94075400	Weak transcription	Fetal Lung	lung
3	chr13:94070000-94077400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr13:94073400-94081600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr13:94073400-94086000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr13:94073600-94080600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr13:94074800-94076000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:94074800-94076400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:94075000-94076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:94075200-94076600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr13:94075200-94076800	Enhancers	Adipose Nuclei	Adipose
12	chr13:94075200-94076800	Enhancers	Ovary	ovary

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