Variant report

Variant	rs72688572
Chromosome Location	chr8:87383637-87383638
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504824	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17607526	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607671	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17607762	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17682190	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs41374044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688516	0.87[AMR][1000 genomes]
rs72688541	0.81[EUR][1000 genomes]
rs72688543	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688546	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688552	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688554	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688555	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688556	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72688567	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688569	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688571	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932023	chr8:86845979-87490694	Enhancers Weak transcription Active TSS 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	31 gene(s)	inside rSNPs	diseases
2	nsv429926	chr8:87161695-87429872	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	esv3360246	chr8:87200232-87419244	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87355800-87405600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87356800-87403800	Weak transcription	Aorta	Aorta
3	chr8:87357400-87403400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr8:87357800-87413600	Weak transcription	Pancreas	Pancrea
5	chr8:87363800-87393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
9	chr8:87368200-87384600	Weak transcription	Fetal Intestine Large	intestine
10	chr8:87368200-87386600	Weak transcription	Hela-S3	cervix
11	chr8:87369200-87384600	Weak transcription	Primary B cells from cord blood	blood
12	chr8:87369600-87384800	Weak transcription	A549	lung
13	chr8:87370000-87384800	Weak transcription	Fetal Lung	lung
14	chr8:87373000-87394600	Weak transcription	Fetal Intestine Small	intestine
15	chr8:87373600-87385800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr8:87373800-87385000	Weak transcription	HepG2	liver
17	chr8:87374200-87384600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr8:87374800-87387000	Weak transcription	Ovary	ovary
19	chr8:87375000-87387000	Weak transcription	NHEK	skin
20	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr8:87375600-87387000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr8:87375800-87384600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:87375800-87384600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:87377000-87387400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr8:87377200-87385800	Weak transcription	NH-A	brain
27	chr8:87377400-87384000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr8:87378200-87386400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr8:87378400-87386600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:87378600-87386600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr8:87378600-87387000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:87378600-87387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:87378600-87402200	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr8:87378600-87402200	Weak transcription	Spleen	Spleen
35	chr8:87378800-87403800	Weak transcription	Psoas Muscle	Psoas
36	chr8:87379000-87387800	Weak transcription	Left Ventricle	heart
37	chr8:87379600-87384000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
39	chr8:87379800-87384600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr8:87379800-87387600	Weak transcription	Brain Angular Gyrus	brain
41	chr8:87379800-87392800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr8:87379800-87403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr8:87380000-87384800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr8:87380200-87384600	Weak transcription	Fetal Stomach	stomach
45	chr8:87380200-87387800	Weak transcription	Brain Hippocampus Middle	brain
46	chr8:87380200-87387800	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:87380400-87383800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:87380400-87385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:87380400-87386000	Weak transcription	HMEC	breast
50	chr8:87380400-87401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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