Variant report

Variant	rs73203488
Chromosome Location	chr8:11572488-11572489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11569396..11573726-chr8:11575318..11577927,4	MCF-7	breast:
2	chr8:11418474..11420140-chr8:11572245..11574135,2	K562	blood:
3	chr8:11570486..11572575-chr8:11576211..11578134,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11781500	0.80[EUR][1000 genomes]
rs11784821	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11785555	1.00[EUR][1000 genomes]
rs11786824	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2409813	0.83[EUR][1000 genomes]
rs28473684	0.84[EUR][1000 genomes]
rs4269498	0.80[EUR][1000 genomes]
rs4469416	1.00[AFR][1000 genomes]
rs57341427	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59101725	0.89[EUR][1000 genomes]
rs61277615	0.80[EUR][1000 genomes]
rs6990313	0.83[EUR][1000 genomes]
rs73203475	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs73203478	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73203480	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73203482	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73203490	0.97[EUR][1000 genomes]
rs73203493	0.97[EUR][1000 genomes]
rs73203500	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73205106	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205108	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205114	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73205120	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73205121	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7827193	0.86[EUR][1000 genomes]
rs7837066	0.83[EUR][1000 genomes]
rs7840794	0.91[EUR][1000 genomes]

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	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	nsv6079	chr8:11564157-11573046	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11567200-11574400	Enhancers	Liver	Liver
2	chr8:11568000-11577600	Weak transcription	Gastric	stomach
3	chr8:11570000-11574400	Enhancers	HepG2	liver
4	chr8:11570800-11572600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:11571000-11572800	Active TSS	Duodenum Mucosa	Duodenum
6	chr8:11571600-11573200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11572200-11572600	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
8	chr8:11572200-11574000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:11572200-11574000	Weak transcription	Right Ventricle	heart
10	chr8:11572200-11575000	Weak transcription	Pancreas	Pancrea
11	chr8:11572200-11576600	Enhancers	Fetal Intestine Small	intestine
12	chr8:11572400-11574000	Weak transcription	Left Ventricle	heart
13	chr8:11572400-11574000	Active TSS	Ovary	ovary
14	chr8:11572400-11574000	Weak transcription	Right Atrium	heart
15	chr8:11572400-11574000	Weak transcription	Stomach Mucosa	stomach
16	chr8:11572400-11575000	Enhancers	Fetal Heart	heart
17	chr8:11572400-11577400	Weak transcription	Placenta	Placenta

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