Variant report

Variant	rs72688595
Chromosome Location	chr8:87438365-87438366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87427506..87429121-chr8:87437907..87440675,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs72688596	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72688597	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688599	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688600	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72688602	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690405	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72690406	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690409	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690411	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690412	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72690413	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72690414	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72690415	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72690418	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690421	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690423	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690424	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690427	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690429	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72690431	0.84[EUR][1000 genomes]
rs72690432	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 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	chr8:87379600-87444000	Weak transcription	Brain Germinal Matrix	brain
2	chr8:87382400-87444000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr8:87388600-87441200	Weak transcription	Right Ventricle	heart
4	chr8:87404200-87440600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:87405400-87443600	Weak transcription	NHLF	lung
6	chr8:87409200-87440800	Weak transcription	Spleen	Spleen
7	chr8:87416400-87443600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:87418200-87440800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:87422200-87440800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:87422200-87441200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:87426000-87446400	Weak transcription	K562	blood
12	chr8:87426400-87438400	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:87426800-87440800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr8:87427400-87452600	Weak transcription	HSMMtube	muscle
15	chr8:87427600-87485600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:87428200-87443800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr8:87428600-87460800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:87429400-87438600	Weak transcription	Left Ventricle	heart
19	chr8:87429400-87440800	Weak transcription	Aorta	Aorta
20	chr8:87429400-87441200	Weak transcription	Gastric	stomach
21	chr8:87429400-87443600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:87429400-87443600	Weak transcription	Small Intestine	intestine
23	chr8:87429400-87443800	Weak transcription	Brain Angular Gyrus	brain
24	chr8:87429400-87453600	Weak transcription	Stomach Mucosa	stomach
25	chr8:87429600-87440000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:87429600-87440800	Weak transcription	Pancreas	Pancrea
27	chr8:87429800-87443800	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:87429800-87444000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:87430000-87440800	Weak transcription	Brain Substantia Nigra	brain
30	chr8:87430200-87440800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr8:87431000-87438600	Weak transcription	Thymus	Thymus
32	chr8:87431200-87440800	Weak transcription	Esophagus	oesophagus
33	chr8:87431400-87439800	Weak transcription	Osteobl	bone
34	chr8:87431600-87438800	Weak transcription	Fetal Stomach	stomach
35	chr8:87431600-87438800	Weak transcription	Lung	lung
36	chr8:87431600-87440800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr8:87431600-87443800	Weak transcription	Colonic Mucosa	Colon
38	chr8:87431800-87443600	Weak transcription	GM12878-XiMat	blood
39	chr8:87432400-87438400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:87432400-87443800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:87432600-87438600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr8:87432600-87438600	Weak transcription	HepG2	liver
43	chr8:87432600-87438800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr8:87432600-87439600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr8:87432600-87451200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr8:87432800-87440800	Weak transcription	Ovary	ovary
47	chr8:87432800-87443800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr8:87433000-87438600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:87433000-87440600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr8:87434800-87440800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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