Variant report

Variant	rs73679588
Chromosome Location	chr8:54918620-54918621
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:54913093..54915399-chr8:54918216..54919882,3	K562	blood:
2	chr8:54918491..54920858-chr8:54923659..54925913,2	MCF-7	breast:
3	chr8:54909346..54912136-chr8:54916629..54919127,2	K562	blood:
4	chr8:54916240..54919178-chr8:54929499..54931994,2	K562	blood:
5	chr8:54913084..54915375-chr8:54917317..54918992,2	K562	blood:
6	chr8:54900563..54902086-chr8:54917841..54919775,2	K562	blood:

Extended variants
information (count: 114 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10093311	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10093431	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095163	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095164	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10095679	0.86[EUR][1000 genomes]
rs10096376	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10099080	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10101289	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102439	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102726	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10102905	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112203	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1044604	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1112697	1.00[AMR][1000 genomes]
rs1112698	1.00[AMR][1000 genomes]
rs11986605	0.95[AMR][1000 genomes]
rs11988830	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11988859	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11993180	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11994366	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11998000	1.00[AMR][1000 genomes]
rs11998659	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16919750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16919924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28369337	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28379732	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28397021	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs28412019	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28413072	0.96[AMR][1000 genomes]
rs28431894	0.86[EUR][1000 genomes]
rs28507589	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28533970	0.86[AFR][1000 genomes];1.00[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	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759114	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55704212	1.00[AMR][1000 genomes]
rs55781183	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55864901	1.00[AMR][1000 genomes]
rs56087054	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56902942	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57093383	1.00[AMR][1000 genomes]
rs58515879	1.00[AMR][1000 genomes]
rs58595525	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59087284	1.00[AMR][1000 genomes]
rs59114404	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59277432	1.00[AMR][1000 genomes]
rs59387379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60186893	1.00[AMR][1000 genomes]
rs60672236	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs60805450	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6473899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473902	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473903	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6473905	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473906	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6473910	0.86[AMR][1000 genomes]
rs6981386	1.00[AMR][1000 genomes]
rs6983650	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6983958	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6984119	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6989211	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6992073	1.00[AMR][1000 genomes]
rs7001391	1.00[AMR][1000 genomes]
rs7003793	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7004808	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7005653	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007028	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7007031	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7007176	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008593	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7011032	0.86[AMR][1000 genomes]
rs7014036	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7016108	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7018089	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7018355	0.97[AFR][1000 genomes];0.95[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[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73589295	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73590817	0.93[EUR][1000 genomes]
rs73679589	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73679602	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681304	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681305	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73681307	1.00[AMR][1000 genomes]
rs73681308	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73681309	1.00[AMR][1000 genomes]
rs73681805	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73681806	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7815998	1.00[AMR][1000 genomes]
rs7822750	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7823234	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824355	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7824979	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7833336	1.00[AMR][1000 genomes]
rs7834757	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7836760	1.00[AMR][1000 genomes]
rs7839276	0.95[AMR][1000 genomes]
rs7844291	1.00[AMR][1000 genomes]
rs7844299	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7844390	0.86[EUR][1000 genomes]
rs7846650	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9771960	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9918912	0.95[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
2	chr8:54892200-54932400	Weak transcription	Stomach Mucosa	stomach
3	chr8:54899200-54933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr8:54899800-54932200	Weak transcription	Brain Substantia Nigra	brain
5	chr8:54900600-54922000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:54900800-54928400	Weak transcription	Brain Cingulate Gyrus	brain
7	chr8:54900800-54931200	Weak transcription	Right Ventricle	heart
8	chr8:54900800-54932800	Weak transcription	Fetal Kidney	kidney
9	chr8:54901400-54926600	Weak transcription	Pancreas	Pancrea
10	chr8:54903400-54924800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:54903800-54923800	Weak transcription	Brain Hippocampus Middle	brain
12	chr8:54903800-54931400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:54903800-54932600	Weak transcription	Brain Anterior Caudate	brain
14	chr8:54903800-54933000	Weak transcription	Aorta	Aorta
15	chr8:54903800-54933400	Weak transcription	Esophagus	oesophagus
16	chr8:54904000-54922600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:54904000-54933600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:54904200-54926000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:54905400-54922400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr8:54905400-54926600	Weak transcription	Ovary	ovary
21	chr8:54905600-54922000	Weak transcription	Colon Smooth Muscle	Colon
22	chr8:54908200-54926800	Weak transcription	Osteobl	bone
23	chr8:54908200-54931000	Weak transcription	Thymus	Thymus
24	chr8:54908800-54919200	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:54909000-54921800	Weak transcription	Fetal Heart	heart
26	chr8:54909000-54923800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:54909000-54928800	Weak transcription	Gastric	stomach
28	chr8:54909000-54930800	Weak transcription	HUVEC	blood vessel
29	chr8:54909000-54931800	Weak transcription	Lung	lung
30	chr8:54909200-54922000	Weak transcription	NHDF-Ad	bronchial
31	chr8:54909200-54932200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:54909200-54933000	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr8:54909600-54923800	Weak transcription	Psoas Muscle	Psoas
34	chr8:54909800-54928600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr8:54910400-54920200	Weak transcription	Fetal Intestine Small	intestine
36	chr8:54910400-54921600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:54910400-54932800	Weak transcription	Fetal Brain Female	brain
38	chr8:54910600-54924000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr8:54910600-54926600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr8:54910800-54922000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr8:54911000-54922600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr8:54911000-54923800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:54911000-54926400	Weak transcription	HSMMtube	muscle
44	chr8:54911000-54932800	Weak transcription	NH-A	brain
45	chr8:54911200-54919600	Weak transcription	Fetal Intestine Large	intestine
46	chr8:54911200-54926600	Weak transcription	NHLF	lung
47	chr8:54911400-54920200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr8:54911400-54921400	Weak transcription	HMEC	breast
49	chr8:54911400-54926800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:54911400-54931000	Weak transcription	Brain Inferior Temporal Lobe	brain

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