Variant report

Variant	rs66795450
Chromosome Location	chr8:62507908-62507909
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	chr8:62502517..62504519-chr8:62506579..62509041,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11984541	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12675597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1574196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2350585	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2882460	0.83[ASN][1000 genomes]
rs60403482	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66516703	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7017995	0.83[ASN][1000 genomes]
rs7822250	0.86[ASN][1000 genomes]
rs7834148	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7836217	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv1029046	chr8:62224341-62535277	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv1032489	chr8:62450784-62555994	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv539635	chr8:62450784-62555994	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62466800-62508600	Weak transcription	Pancreas	Pancrea
2	chr8:62468600-62549000	Weak transcription	Right Ventricle	heart
3	chr8:62489000-62508200	Weak transcription	Left Ventricle	heart
4	chr8:62489200-62528800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr8:62493000-62508400	Weak transcription	Lung	lung
6	chr8:62493000-62508400	Weak transcription	Spleen	Spleen
7	chr8:62493200-62508200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:62493200-62512400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr8:62494200-62508400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr8:62494200-62508600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr8:62494200-62511600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr8:62494200-62511800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr8:62494200-62512400	Weak transcription	Brain Anterior Caudate	brain
14	chr8:62494200-62519400	Weak transcription	Esophagus	oesophagus
15	chr8:62494200-62520400	Weak transcription	Primary hematopoietic stem cells	blood
16	chr8:62494200-62521400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:62494800-62508200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:62495400-62529000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:62495600-62508400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr8:62495600-62525800	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr8:62496800-62508200	Weak transcription	Placenta	Placenta
22	chr8:62497000-62508800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:62498400-62508600	Weak transcription	Gastric	stomach
24	chr8:62498400-62521200	Weak transcription	Ovary	ovary
25	chr8:62499200-62519400	Weak transcription	Liver	Liver
26	chr8:62503000-62509400	Enhancers	NHDF-Ad	bronchial
27	chr8:62503000-62521200	Weak transcription	Aorta	Aorta
28	chr8:62503200-62508800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr8:62503400-62509000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:62504200-62508000	Weak transcription	HSMM	muscle
31	chr8:62504400-62508400	Weak transcription	Fetal Intestine Small	intestine
32	chr8:62504400-62508400	Weak transcription	Fetal Stomach	stomach
33	chr8:62504600-62508000	Weak transcription	Adipose Nuclei	Adipose
34	chr8:62504600-62508000	Weak transcription	HMEC	breast
35	chr8:62504800-62508200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:62504800-62508200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:62504800-62508200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr8:62504800-62509400	Weak transcription	Small Intestine	intestine
39	chr8:62504800-62512600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:62504800-62516600	Weak transcription	NH-A	brain
41	chr8:62504800-62526800	Weak transcription	NHEK	skin
42	chr8:62504800-62536200	Weak transcription	HUVEC	blood vessel
43	chr8:62505400-62509400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr8:62506200-62512400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr8:62506200-62528800	Weak transcription	HepG2	liver
46	chr8:62506400-62508000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:62506400-62508200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:62506400-62509400	Genic enhancers	A549	lung
49	chr8:62506400-62526200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr8:62506600-62541400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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