Variant report

Variant	rs73205121
Chromosome Location	chr8:11598188-11598189
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:11591235..11593958-chr8:11596289..11599028,2	K562	blood:
2	chr8:11422289..11424857-chr8:11598109..11600598,2	MCF-7	breast:
3	chr8:11595827..11599047-chr8:11599477..11602717,3	K562	blood:
4	chr8:11591065..11593958-chr8:11596215..11599028,3	K562	blood:
5	chr8:11539259..11542164-chr8:11597073..11599165,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11784821	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11785555	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11786824	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57341427	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59101725	0.95[EUR][1000 genomes]
rs73203475	1.00[AMR][1000 genomes]
rs73203478	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73203480	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73203482	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73203488	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73203490	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73203493	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73203500	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73205106	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73205108	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73205114	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73205120	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7827193	0.98[EUR][1000 genomes]
rs7840794	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	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
4	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
5	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
6	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
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11593400-11601400	Genic enhancers	Fetal Intestine Small	intestine
2	chr8:11593600-11599200	Enhancers	Liver	Liver
3	chr8:11595200-11599000	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr8:11595200-11600600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:11595400-11600600	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:11596200-11599200	Enhancers	Right Atrium	heart
7	chr8:11596200-11604000	Enhancers	Pancreas	Pancrea
8	chr8:11596400-11599200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:11597600-11598400	Weak transcription	Stomach Mucosa	stomach
10	chr8:11597600-11598600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:11597600-11600400	Enhancers	Right Ventricle	heart
12	chr8:11597600-11601000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr8:11597800-11598200	Weak transcription	Placenta	Placenta
14	chr8:11597800-11599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:11597800-11599200	Enhancers	Ovary	ovary
16	chr8:11597800-11599400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:11597800-11599600	Enhancers	HepG2	liver
18	chr8:11597800-11600400	Enhancers	Gastric	stomach
19	chr8:11597800-11600600	Enhancers	Fetal Heart	heart
20	chr8:11598000-11599200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr8:11598000-11599200	Weak transcription	Left Ventricle	heart

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