Variant report

Variant	rs59213790
Chromosome Location	chr8:42872779-42872780
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:42870799..42873308-chr8:42909571..42911361,2	K562	blood:

Variant related genes	Relation type
ENSG00000168522	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:101)

rs_ID	r²[population]
rs10453137	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10675533	0.87[EUR][1000 genomes]
rs11984488	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984550	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11984732	0.81[EUR][1000 genomes]
rs11986255	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11987452	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988102	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988197	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11988227	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11988823	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11990369	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991133	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11991458	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992397	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992567	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11992660	0.96[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11992682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11992987	0.82[AFR][1000 genomes]
rs11993667	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994115	0.82[AFR][1000 genomes]
rs11994318	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995172	0.82[AFR][1000 genomes]
rs11995473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11995810	0.82[AFR][1000 genomes]
rs11996604	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11997992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17622134	0.81[EUR][1000 genomes]
rs2194902	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28799623	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28840077	0.82[AFR][1000 genomes]
rs34489103	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35506493	0.80[AFR][1000 genomes]
rs57363090	1.00[EUR][1000 genomes]
rs57797146	0.95[EUR][1000 genomes]
rs57986156	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58081556	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58641534	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59164172	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59177170	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59531993	0.81[EUR][1000 genomes]
rs60133450	0.82[AFR][1000 genomes]
rs60443202	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60555023	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs60782941	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs61224035	0.92[AFR][1000 genomes]
rs61733908	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6651368	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6651369	0.90[EUR][1000 genomes]
rs7004940	1.00[EUR][1000 genomes]
rs7008140	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7010367	0.90[EUR][1000 genomes]
rs73627229	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73627242	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627249	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627250	0.86[AFR][1000 genomes]
rs73627252	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627261	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627273	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627274	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627276	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627278	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627280	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627282	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627288	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73627294	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73629108	0.84[AFR][1000 genomes]
rs73629110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629152	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629156	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629161	0.90[EUR][1000 genomes]
rs73629163	0.90[EUR][1000 genomes]
rs73629177	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629179	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629182	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629190	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629192	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73629194	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73634652	0.80[AFR][1000 genomes]
rs73634666	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634670	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634673	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634677	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634682	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73634696	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635313	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73635316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73635325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635331	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635345	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635352	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635357	0.84[AFR][1000 genomes]
rs73635362	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635364	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635365	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635368	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73635370	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7820326	0.81[EUR][1000 genomes]
rs7838845	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
8	nsv429912	chr8:42852444-43701143	ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
9	nsv869499	chr8:42858608-43541986	Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv916847	chr8:42858611-43541984	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
11	nsv1027779	chr8:42863024-43729296	Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 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	chr8:42823400-42875600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:42824800-42874800	Weak transcription	Hela-S3	cervix
4	chr8:42844600-42873200	Weak transcription	HMEC	breast
5	chr8:42847000-42889400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:42847200-42886800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:42847400-42875400	Weak transcription	Psoas Muscle	Psoas
8	chr8:42848400-42877200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr8:42848400-42879600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:42856800-42877200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:42859000-42891600	Weak transcription	Small Intestine	intestine
12	chr8:42860400-42883200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr8:42861400-42873800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:42861400-42883200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:42861600-42874800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:42861600-42881800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:42861800-42873200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:42862000-42873800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr8:42862000-42874400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr8:42862200-42877800	Strong transcription	Fetal Muscle Trunk	muscle
21	chr8:42862400-42876600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr8:42862400-42877800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:42862400-42878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:42862400-42881000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:42862400-42883000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:42862400-42883200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr8:42862400-42884600	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr8:42863000-42873800	Strong transcription	Fetal Intestine Large	intestine
29	chr8:42863000-42878000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr8:42863000-42881600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr8:42863000-42883200	Strong transcription	Adipose Nuclei	Adipose
32	chr8:42863000-42883200	Strong transcription	Placenta	Placenta
33	chr8:42863400-42879400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr8:42863600-42873800	Strong transcription	Fetal Muscle Leg	muscle
35	chr8:42864000-42883200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:42864000-42889400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr8:42864200-42873800	Strong transcription	Left Ventricle	heart
38	chr8:42864200-42876000	Strong transcription	Liver	Liver
39	chr8:42864200-42876400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:42864200-42877600	Strong transcription	Primary neutrophils fromperipheralblood	blood
41	chr8:42864200-42877800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr8:42864200-42881400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:42864400-42877600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr8:42864400-42877600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:42864600-42876200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr8:42865200-42877600	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr8:42865400-42877600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr8:42865400-42877600	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:42865800-42873800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr8:42865800-42873800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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