Variant report

Variant	rs5020321
Chromosome Location	chr8:63161829-63161830
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10090048	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs10090129	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10094502	0.98[EUR][1000 genomes]
rs10095168	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs10099748	0.90[EUR][1000 genomes]
rs10101551	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10448028	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1154592	0.91[EUR][1000 genomes]
rs11778470	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs12548234	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs12549042	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12679323	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13249875	0.80[EUR][1000 genomes]
rs13250200	0.81[EUR][1000 genomes]
rs13252919	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13255752	0.91[EUR][1000 genomes]
rs13261910	0.87[EUR][1000 genomes]
rs13262465	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13264993	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13268451	0.89[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs13271280	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13281158	0.86[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs1351702	0.98[EUR][1000 genomes]
rs1384675	0.91[EUR][1000 genomes]
rs1384683	0.98[EUR][1000 genomes]
rs1384684	0.90[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs1483165	0.92[EUR][1000 genomes]
rs1483173	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1483177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552205	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs2272014	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2272015	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2351652	0.89[EUR][1000 genomes]
rs2351653	0.89[EUR][1000 genomes]
rs2882742	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs4262319	0.98[EUR][1000 genomes]
rs4637821	0.90[EUR][1000 genomes]
rs4738948	0.98[EUR][1000 genomes]
rs6983788	0.98[EUR][1000 genomes]
rs7017869	0.92[EUR][1000 genomes]
rs7017975	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7834815	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs900491	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs900492	0.92[EUR][1000 genomes]
rs9298062	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643536	0.92[EUR][1000 genomes]
rs9987255	0.92[AFR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016883	chr8:63110741-63171354	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1019143	chr8:63142202-63390820	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2757277	chr8:63156123-63260182	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv2759621	chr8:63156123-63260182	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3339374	chr8:63160423-63162971	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63159200-63163800	Active TSS	Fetal Brain Female	brain
2	chr8:63159600-63162800	Active TSS	Brain Anterior Caudate	brain
3	chr8:63159800-63163000	Active TSS	Fetal Brain Male	brain
4	chr8:63160000-63162000	Active TSS	Ovary	ovary
5	chr8:63160000-63162000	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr8:63160000-63162200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:63160000-63162400	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr8:63160000-63162400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:63160000-63162400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
10	chr8:63160200-63162000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:63160200-63162000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr8:63160200-63162000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
13	chr8:63160200-63162000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr8:63160200-63162200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr8:63160200-63162200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr8:63160200-63162200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:63160200-63162200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
19	chr8:63160200-63162400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr8:63160200-63162400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr8:63160200-63162400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr8:63160200-63162400	Active TSS	Brain Angular Gyrus	brain
23	chr8:63160200-63162400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
24	chr8:63160200-63162400	Active TSS	Rectal Smooth Muscle	rectum
25	chr8:63160200-63162800	Active TSS	Fetal Kidney	kidney
26	chr8:63160400-63162000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
27	chr8:63160400-63162000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr8:63160400-63162000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:63160400-63162000	Active TSS	Brain Germinal Matrix	brain
30	chr8:63160400-63162000	Bivalent/Poised TSS	Fetal Stomach	stomach
31	chr8:63160400-63162000	Bivalent/Poised TSS	Stomach Mucosa	stomach
32	chr8:63160400-63162000	Active TSS	HSMMtube	muscle
33	chr8:63160400-63162000	Active TSS	NH-A	brain
34	chr8:63160400-63162000	Active TSS	NHDF-Ad	bronchial
35	chr8:63160400-63162200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr8:63160400-63162200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:63160400-63162200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
38	chr8:63160400-63162200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
39	chr8:63160400-63162200	Bivalent/Poised TSS	Colonic Mucosa	Colon
40	chr8:63160400-63162200	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
41	chr8:63160400-63162200	Active TSS	Right Atrium	heart
42	chr8:63160400-63162200	Active TSS	A549	lung
43	chr8:63160400-63162400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr8:63160400-63162600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
45	chr8:63160400-63162600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
46	chr8:63160600-63162000	Active TSS	H9 Cell Line	embryonic stem cell
47	chr8:63160600-63162000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr8:63160600-63162000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr8:63160600-63162000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:63160600-63162000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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