Variant report

Variant	rs446470
Chromosome Location	chr8:8775770-8775771
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs184555	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs366099	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs366166	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs371200	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs373204	0.86[ASN][1000 genomes]
rs378636	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs379380	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs380000	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs384707	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs391723	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs403245	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs407830	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs410937	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs418714	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs419658	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs421921	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs427041	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs433724	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs433960	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs440029	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs441131	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs455039	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs777056	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv995047	chr8:8353662-8857913	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking 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	23 gene(s)	inside rSNPs	diseases
3	nsv831228	chr8:8608387-8790790	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv1018828	chr8:8609880-8790660	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1022331	chr8:8610035-8787981	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv831229	chr8:8751523-8926235	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv1017388	chr8:8759494-8826714	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1017238	chr8:8760138-8831662	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1017715	chr8:8766881-8785883	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
11	esv275541	chr8:8766881-8791144	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
12	nsv1026913	chr8:8773659-8838256	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8763200-8783200	Weak transcription	Pancreas	Pancrea
2	chr8:8771200-8776400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:8771800-8777600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:8773800-8777000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr8:8774200-8775800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:8774200-8777200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr8:8774400-8776000	Enhancers	Stomach Mucosa	stomach
8	chr8:8774400-8776600	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr8:8774400-8776800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:8774400-8777200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr8:8774600-8775800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr8:8774600-8777200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:8774600-8777400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:8774600-8777400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr8:8774800-8775800	Enhancers	Fetal Intestine Large	intestine
16	chr8:8774800-8775800	Enhancers	HMEC	breast
17	chr8:8774800-8776400	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr8:8774800-8776400	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:8774800-8777000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:8774800-8777200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr8:8774800-8777800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr8:8774800-8777800	Enhancers	Primary B cells from peripheral blood	blood
23	chr8:8775000-8775800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr8:8775000-8775800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr8:8775000-8775800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:8775000-8775800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:8775000-8775800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr8:8775000-8775800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:8775000-8775800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:8775000-8775800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:8775000-8775800	Enhancers	Brain Anterior Caudate	brain
32	chr8:8775000-8775800	Enhancers	Brain Cingulate Gyrus	brain
33	chr8:8775000-8775800	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr8:8775000-8775800	Active TSS	Duodenum Mucosa	Duodenum
35	chr8:8775000-8775800	Enhancers	Fetal Intestine Small	intestine
36	chr8:8775000-8775800	Enhancers	Spleen	Spleen
37	chr8:8775000-8775800	Enhancers	HUVEC	blood vessel
38	chr8:8775000-8775800	Enhancers	K562	blood
39	chr8:8775000-8775800	Enhancers	NH-A	brain
40	chr8:8775000-8775800	Flanking Active TSS	NHDF-Ad	bronchial
41	chr8:8775000-8775800	Enhancers	NHEK	skin
42	chr8:8775000-8776000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:8775000-8776000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:8775000-8776000	Enhancers	Small Intestine	intestine
45	chr8:8775000-8776800	Enhancers	Dnd41	blood
46	chr8:8775000-8777200	Enhancers	Primary T cells from cord blood	blood
47	chr8:8775000-8777200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr8:8775000-8777800	Enhancers	Primary B cells from cord blood	blood
49	chr8:8775000-8777800	Enhancers	Thymus	Thymus
50	chr8:8775000-8778200	Enhancers	Fetal Thymus	thymus

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