Variant report

Variant	rs60858030
Chromosome Location	chr8:125677992-125677993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125621765..125624512-chr8:125677163..125680023,2	MCF-7	breast:
2	chr8:125673153..125675208-chr8:125677038..125679927,4	MCF-7	breast:
3	chr8:125675413..125676979-chr8:125677054..125678727,2	MCF-7	breast:
4	chr8:125676205..125678363-chr8:125679206..125681734,2	MCF-7	breast:
5	chr8:125665987..125668310-chr8:125675466..125678382,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11774868	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870917	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7016031	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125662000-125678400	Weak transcription	Fetal Brain Female	brain
2	chr8:125672600-125679600	Enhancers	Primary B cells from peripheral blood	blood
3	chr8:125672800-125679600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:125673200-125678400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:125673200-125678600	Weak transcription	Placenta	Placenta
7	chr8:125673400-125678200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr8:125673400-125678400	Weak transcription	Small Intestine	intestine
9	chr8:125673400-125680200	Weak transcription	HMEC	breast
10	chr8:125674000-125678200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:125674000-125678200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:125674200-125678200	Weak transcription	Brain Angular Gyrus	brain
13	chr8:125674200-125678200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:125674200-125678200	Weak transcription	Fetal Brain Male	brain
15	chr8:125674200-125678400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:125674400-125678200	Weak transcription	HepG2	liver
17	chr8:125674600-125679000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr8:125675200-125679000	Enhancers	Adipose Nuclei	Adipose
19	chr8:125675200-125679000	Enhancers	Left Ventricle	heart
20	chr8:125675200-125679200	Enhancers	Brain Hippocampus Middle	brain
21	chr8:125675200-125679400	Enhancers	Psoas Muscle	Psoas
22	chr8:125675200-125679600	Enhancers	Fetal Muscle Leg	muscle
23	chr8:125675200-125679600	Enhancers	Gastric	stomach
24	chr8:125675400-125680800	Enhancers	Fetal Heart	heart
25	chr8:125675400-125685000	Weak transcription	Colonic Mucosa	Colon
26	chr8:125675600-125678200	Weak transcription	Fetal Kidney	kidney
27	chr8:125675600-125680000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:125675600-125680200	Weak transcription	NHEK	skin
29	chr8:125675800-125678800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:125675800-125680000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:125675800-125680200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr8:125676000-125680400	Weak transcription	Esophagus	oesophagus
33	chr8:125676000-125681400	Weak transcription	Liver	Liver
34	chr8:125676200-125678200	Weak transcription	Brain Anterior Caudate	brain
35	chr8:125676200-125678200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr8:125676200-125678800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:125676200-125679400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr8:125676400-125678200	Weak transcription	Brain Germinal Matrix	brain
40	chr8:125676400-125680000	Weak transcription	Thymus	Thymus
41	chr8:125676400-125680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr8:125676400-125685200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr8:125676600-125678600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:125676600-125680200	Weak transcription	Lung	lung
45	chr8:125676600-125680800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr8:125676600-125681800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr8:125676600-125683400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:125676600-125685200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr8:125676800-125679000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:125677000-125678400	Weak transcription	Fetal Intestine Small	intestine

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