Variant report

Variant	rs7821062
Chromosome Location	chr8:42836984-42836985
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1052654	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11986681	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11987893	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11990515	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11997799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13251524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13257298	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs16891663	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34100417	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34864660	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35021392	0.80[EUR][1000 genomes]
rs35252795	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35688388	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs57652067	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57797146	0.92[AFR][1000 genomes]
rs58729413	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs60292433	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs62515942	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62515949	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62517585	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs67575305	0.80[EUR][1000 genomes]
rs6996034	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6999489	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7004940	0.97[AFR][1000 genomes]
rs7014595	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs71521600	0.80[EUR][1000 genomes]
rs71521601	0.82[AMR][1000 genomes]
rs7462864	0.96[AMR][1000 genomes]
rs7829867	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890846	chr8:42625663-43240123	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
2	nsv1024688	chr8:42709414-43333639	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv539563	chr8:42709414-43333639	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1033927	chr8:42748842-43575771	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	nsv533812	chr8:42755447-43528350	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
6	nsv1032781	chr8:42772394-43461484	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv1021281	chr8:42807619-43472678	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:42776000-42874800	Weak transcription	Fetal Heart	heart
2	chr8:42796800-42846000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:42809800-42842600	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr8:42810600-42845200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:42813200-42845800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:42813200-42846000	Weak transcription	Stomach Mucosa	stomach
7	chr8:42813800-42842000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:42813800-42846600	Strong transcription	Placenta	Placenta
9	chr8:42814200-42840400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr8:42814400-42845800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr8:42814400-42846600	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr8:42815200-42845600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr8:42816000-42837600	Weak transcription	K562	blood
14	chr8:42816200-42846000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr8:42819200-42848600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:42819600-42844400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:42819800-42846800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:42821800-42848000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr8:42822000-42837800	Weak transcription	Fetal Kidney	kidney
20	chr8:42822600-42846600	Weak transcription	Psoas Muscle	Psoas
21	chr8:42823400-42844400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
24	chr8:42826000-42845600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:42827000-42844400	Strong transcription	Primary T cells from cord blood	blood
26	chr8:42827000-42845600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr8:42827200-42840000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:42827200-42845200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:42827200-42848000	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr8:42827600-42846600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr8:42827600-42848200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:42828000-42842400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr8:42829000-42841400	Strong transcription	Fetal Stomach	stomach
34	chr8:42829200-42837000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:42829200-42837000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr8:42829200-42838800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr8:42829400-42838600	Strong transcription	Fetal Lung	lung
38	chr8:42830400-42837600	Weak transcription	Colonic Mucosa	Colon
39	chr8:42830600-42837600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr8:42830600-42837600	Weak transcription	Ovary	ovary
41	chr8:42830600-42840800	Weak transcription	NHEK	skin
42	chr8:42830800-42837600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr8:42830800-42837800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr8:42830800-42842800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr8:42830800-42847800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:42830800-42848000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:42830800-42848200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr8:42830800-42865400	Weak transcription	NHLF	lung
49	chr8:42830800-42865800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr8:42831600-42837600	Weak transcription	NHDF-Ad	bronchial

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