Variant report

Variant	rs72690458
Chromosome Location	chr8:87545729-87545730
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	chr8:87528642..87530969-chr8:87544155..87546227,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs17609487	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17609515	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17682647	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2119537	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72688597	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688599	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688600	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72688602	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690405	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72690406	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690409	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690411	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72690412	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690413	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690414	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690415	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690418	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72690421	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690423	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690424	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690427	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690429	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72690431	0.93[EUR][1000 genomes]
rs72690432	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72690438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690440	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690444	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690446	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690456	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72690467	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690468	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690469	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690475	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690477	1.00[AMR][1000 genomes];0.96[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	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
2	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
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87550200	Weak transcription	Aorta	Aorta
3	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
4	chr8:87527600-87568200	Weak transcription	Gastric	stomach
5	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:87527800-87546200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr8:87527800-87546200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr8:87527800-87547400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
10	chr8:87528000-87550800	Weak transcription	Psoas Muscle	Psoas
11	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
12	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
13	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
14	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:87528400-87550400	Weak transcription	HepG2	liver
16	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
17	chr8:87528600-87548600	Weak transcription	Fetal Brain Male	brain
18	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
19	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
20	chr8:87529400-87549000	Weak transcription	Brain Substantia Nigra	brain
21	chr8:87535600-87547800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr8:87535800-87548800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:87536000-87559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:87536200-87550000	Weak transcription	NH-A	brain
25	chr8:87536200-87550400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr8:87536400-87548400	Weak transcription	HUVEC	blood vessel
27	chr8:87536400-87550600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr8:87536600-87556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:87539400-87545800	Strong transcription	NHEK	skin
30	chr8:87539400-87551800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:87539400-87552000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:87539400-87554000	Strong transcription	Fetal Intestine Large	intestine
33	chr8:87539600-87550000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:87539600-87560200	Weak transcription	Lung	lung
35	chr8:87540400-87554800	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr8:87540600-87546600	Strong transcription	Rectal Mucosa Donor 29	rectum
37	chr8:87540800-87546600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:87541000-87546800	Strong transcription	Duodenum Mucosa	Duodenum
39	chr8:87541200-87554800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:87541400-87546400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:87541400-87547400	Strong transcription	Adipose Nuclei	Adipose
42	chr8:87541400-87554800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr8:87541600-87553000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr8:87541600-87563800	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr8:87541600-87570600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr8:87542000-87548400	Weak transcription	HSMM	muscle
47	chr8:87542000-87558800	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr8:87542200-87546800	Strong transcription	Liver	Liver
49	chr8:87542400-87553000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:87542600-87547000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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