Variant report

Variant	rs72688580
Chromosome Location	chr8:87396419-87396420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:87396031..87397831-chr8:87399849..87402130,2	K562	blood:
2	chr8:87390217..87391790-chr8:87396412..87399105,2	MCF-7	breast:
3	chr8:87396168..87398417-chr8:87398734..87401130,2	MCF-7	breast:

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]
rs72688572	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688578	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:120 , 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	chr8:87364000-87397400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:87366000-87398200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:87366800-87423800	Weak transcription	Colonic Mucosa	Colon
8	chr8:87375400-87397400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:87375600-87403000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr8:87378600-87402200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:87378600-87402200	Weak transcription	Spleen	Spleen
12	chr8:87378800-87403800	Weak transcription	Psoas Muscle	Psoas
13	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:87379800-87403800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:87380400-87401800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:87380800-87403600	Weak transcription	Stomach Mucosa	stomach
17	chr8:87381000-87398800	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr8:87381000-87403600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:87381000-87404000	Weak transcription	Small Intestine	intestine
20	chr8:87381000-87430800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr8:87381200-87397600	Weak transcription	Fetal Heart	heart
22	chr8:87381200-87425600	Weak transcription	K562	blood
23	chr8:87382400-87401800	Weak transcription	Lung	lung
24	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:87382800-87399000	Weak transcription	Thymus	Thymus
26	chr8:87383000-87399000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:87383000-87403200	Weak transcription	Osteobl	bone
28	chr8:87383000-87406000	Weak transcription	HUVEC	blood vessel
29	chr8:87383000-87415000	Weak transcription	NHDF-Ad	bronchial
30	chr8:87383400-87404400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:87384600-87399000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:87385000-87398800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr8:87385000-87438000	Weak transcription	Fetal Brain Male	brain
34	chr8:87385200-87398600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:87385400-87399000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr8:87385600-87399000	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:87386000-87399000	Weak transcription	Gastric	stomach
38	chr8:87386000-87403800	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr8:87386200-87403600	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:87386400-87401200	Strong transcription	Placenta	Placenta
41	chr8:87387400-87403200	Weak transcription	NH-A	brain
42	chr8:87388200-87397600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr8:87388200-87398800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr8:87388200-87399000	Weak transcription	Fetal Thymus	thymus
45	chr8:87388200-87400000	Weak transcription	NHEK	skin
46	chr8:87388200-87403400	Weak transcription	Colon Smooth Muscle	Colon
47	chr8:87388200-87410600	Weak transcription	HMEC	breast
48	chr8:87388200-87415200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr8:87388400-87398000	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:87388400-87398200	Weak transcription	Cortex derived primary cultured neurospheres	brain

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