Variant report

Variant	rs58595525
Chromosome Location	chr8:54876145-54876146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:54870259..54872063-chr8:54876101..54877711,2	K562	blood:
2	chr8:54864473..54868508-chr8:54874228..54876255,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10093311	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093431	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095163	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095164	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095679	0.86[EUR][1000 genomes]
rs10096376	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099080	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101289	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102439	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102726	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112203	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044604	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	0.91[AMR][1000 genomes]
rs1112698	0.91[AMR][1000 genomes]
rs11986605	0.86[AMR][1000 genomes]
rs11988830	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994366	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	0.91[AMR][1000 genomes]
rs11998659	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919750	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397021	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413072	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs28431894	0.86[EUR][1000 genomes]
rs28507589	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533970	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28565202	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28707072	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28736685	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759114	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704212	0.91[AMR][1000 genomes]
rs55781183	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	0.91[AMR][1000 genomes]
rs56087054	0.91[AMR][1000 genomes]
rs56902942	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093383	0.91[AMR][1000 genomes]
rs58515879	0.91[AMR][1000 genomes]
rs59087284	0.91[AMR][1000 genomes]
rs59114404	0.91[AMR][1000 genomes]
rs59277432	0.91[AMR][1000 genomes]
rs59387379	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60186893	0.91[AMR][1000 genomes]
rs60672236	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6473899	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473901	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473902	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473903	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473905	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6981386	0.91[AMR][1000 genomes]
rs6983650	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983958	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984119	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989211	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992073	0.91[AMR][1000 genomes]
rs7001391	0.91[AMR][1000 genomes]
rs7003793	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005653	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007031	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008593	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7014036	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016108	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018355	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589273	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73589277	0.86[EUR][1000 genomes]
rs73589286	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73589295	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590817	0.93[EUR][1000 genomes]
rs73679588	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679589	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679596	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679602	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	0.91[AMR][1000 genomes]
rs73681308	0.91[AMR][1000 genomes]
rs73681309	0.91[AMR][1000 genomes]
rs73681805	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681806	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815998	0.91[AMR][1000 genomes]
rs7822750	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824355	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824979	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7833336	0.91[AMR][1000 genomes]
rs7834757	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836760	0.91[AMR][1000 genomes]
rs7839276	0.86[AMR][1000 genomes]
rs7844291	0.91[AMR][1000 genomes]
rs7844299	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844390	0.86[EUR][1000 genomes]
rs7846650	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9771960	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918912	0.86[AMR][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription 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	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54856400-54889400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr8:54858200-54879000	Weak transcription	Right Atrium	heart
3	chr8:54859600-54881200	Weak transcription	Hela-S3	cervix
4	chr8:54859600-54885400	Weak transcription	K562	blood
5	chr8:54862000-54879200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:54862200-54879200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:54866600-54893600	Weak transcription	Fetal Kidney	kidney
8	chr8:54866800-54885200	Weak transcription	NH-A	brain
9	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
11	chr8:54867000-54884800	Weak transcription	HUVEC	blood vessel
12	chr8:54867600-54877400	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr8:54867800-54876600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr8:54868200-54895600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:54870600-54879400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr8:54870800-54879200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr8:54871000-54878000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:54871000-54879200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:54871400-54891000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr8:54871400-54898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:54871600-54877400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
23	chr8:54871800-54879200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:54871800-54880800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr8:54872000-54879000	Strong transcription	Liver	Liver
26	chr8:54872000-54892400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr8:54872200-54876600	Strong transcription	Primary T cells from cord blood	blood
28	chr8:54872200-54879000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr8:54872200-54879200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:54872200-54881000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr8:54872400-54876800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr8:54872600-54876400	Strong transcription	HSMMtube	muscle
33	chr8:54872600-54877000	Strong transcription	Stomach Smooth Muscle	stomach
34	chr8:54872600-54879200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:54872800-54879200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr8:54872800-54898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr8:54873000-54895600	Weak transcription	Colonic Mucosa	Colon
38	chr8:54873200-54876600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr8:54873400-54893600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr8:54873600-54877400	Weak transcription	Fetal Intestine Large	intestine
41	chr8:54873600-54877600	Weak transcription	Left Ventricle	heart
42	chr8:54873600-54894600	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr8:54873600-54898000	Weak transcription	Brain Substantia Nigra	brain
44	chr8:54873800-54877000	Weak transcription	Placenta	Placenta
45	chr8:54873800-54877800	Weak transcription	Pancreas	Pancrea
46	chr8:54873800-54883800	Weak transcription	Brain Germinal Matrix	brain
47	chr8:54873800-54885200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr8:54873800-54891000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr8:54873800-54891000	Weak transcription	NHLF	lung
50	chr8:54873800-54897400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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