Variant report

Variant	rs73266292
Chromosome Location	chr8:95220765-95220766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16916607	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2613218	0.82[ASN][1000 genomes]
rs4735275	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4735277	0.81[ASN][1000 genomes]
rs57715676	0.96[ASN][1000 genomes]
rs59141736	0.96[ASN][1000 genomes]
rs73266294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1022972	chr8:95189085-95245392	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv518636	chr8:95196794-95233336	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539678	chr8:95197036-95225644	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1030292	chr8:95198982-95231692	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv522024	chr8:95199215-95232449	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1020665	chr8:95199302-95232062	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95217200-95221400	Active TSS	Duodenum Mucosa	Duodenum
2	chr8:95218000-95220800	Active TSS	Colonic Mucosa	Colon
3	chr8:95218000-95220800	Active TSS	Rectal Smooth Muscle	rectum
4	chr8:95218200-95220800	Active TSS	Fetal Intestine Large	intestine
5	chr8:95218200-95220800	Active TSS	Fetal Intestine Small	intestine
6	chr8:95218200-95221600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr8:95218400-95220800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr8:95218800-95221200	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr8:95219600-95220800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:95219600-95220800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr8:95219600-95220800	Active TSS	Sigmoid Colon	Sigmoid Colon
12	chr8:95219600-95221000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr8:95219800-95220800	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr8:95219800-95221000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:95219800-95224200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr8:95219800-95224400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr8:95220000-95224400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:95220200-95224200	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr8:95220200-95224200	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:95220200-95224400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:95220600-95220800	Active TSS	Small Intestine	intestine
22	chr8:95220600-95220800	Flanking Active TSS	A549	lung
23	chr8:95220600-95221000	Enhancers	Stomach Mucosa	stomach

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