Variant report

Variant	rs73203493
Chromosome Location	chr8:11578280-11578281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11784821	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11785555	0.97[EUR][1000 genomes]
rs11786824	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11994925	1.00[ASN][1000 genomes]
rs28473684	0.81[EUR][1000 genomes]
rs4269498	0.80[EUR][1000 genomes]
rs56936550	1.00[ASN][1000 genomes]
rs57341427	0.94[EUR][1000 genomes]
rs58258057	1.00[ASN][1000 genomes]
rs59035560	1.00[ASN][1000 genomes]
rs59101725	0.92[EUR][1000 genomes]
rs59799643	1.00[ASN][1000 genomes]
rs59946151	1.00[ASN][1000 genomes]
rs60197293	1.00[ASN][1000 genomes]
rs60893253	1.00[ASN][1000 genomes]
rs61277615	0.80[EUR][1000 genomes]
rs7011491	1.00[ASN][1000 genomes]
rs73203475	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73203478	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73203480	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203482	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203488	0.97[EUR][1000 genomes]
rs73203490	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73203500	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73205106	0.95[EUR][1000 genomes]
rs73205108	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73205114	0.94[EUR][1000 genomes]
rs73205120	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73205121	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73537869	1.00[ASN][1000 genomes]
rs73547720	1.00[ASN][1000 genomes]
rs7827193	0.89[EUR][1000 genomes]
rs7837066	0.80[EUR][1000 genomes]
rs7840794	0.94[EUR][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	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1017865	chr8:11377795-11579954	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11574000-11578400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:11575200-11581800	Enhancers	Fetal Heart	heart
3	chr8:11576200-11584800	Enhancers	Liver	Liver
4	chr8:11576800-11578800	Enhancers	HepG2	liver
5	chr8:11577200-11579200	Enhancers	Left Ventricle	heart
6	chr8:11577200-11579400	Enhancers	Right Ventricle	heart
7	chr8:11577400-11578400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
8	chr8:11577400-11578600	Enhancers	Pancreas	Pancrea
9	chr8:11577400-11579200	Flanking Active TSS	Ovary	ovary
10	chr8:11577600-11578400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr8:11577600-11578600	Enhancers	Right Atrium	heart
12	chr8:11577600-11578800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:11577600-11579200	Bivalent Enhancer	Placenta	Placenta
14	chr8:11577600-11579800	Genic enhancers	Fetal Intestine Small	intestine
15	chr8:11577600-11582600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:11577800-11578400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
17	chr8:11577800-11578600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
18	chr8:11577800-11579800	Weak transcription	Stomach Mucosa	stomach
19	chr8:11578000-11578400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
20	chr8:11578000-11578400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:11578000-11578800	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr8:11578200-11578400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:11578200-11578400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr8:11578200-11578400	Weak transcription	Gastric	stomach
25	chr8:11578200-11578600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr8:11578200-11578800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
27	chr8:11578200-11578800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:11578200-11578800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
29	chr8:11578200-11579200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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