Variant report

Variant	rs58532780
Chromosome Location	chr8:19523103-19523104
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	chr8:19521485..19523580-chr8:19526746..19529079,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11989006	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128814	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57167192	0.85[EUR][1000 genomes]
rs60443509	0.88[EUR][1000 genomes]
rs60778959	0.88[EUR][1000 genomes]
rs6985283	0.85[EUR][1000 genomes]
rs6989904	0.85[EUR][1000 genomes]
rs7012082	0.88[EUR][1000 genomes]
rs73214686	0.95[AFR][1000 genomes]
rs73216604	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949636	chr8:18957705-19664732	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv948861	chr8:19199688-19609029	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949304	chr8:19199688-19625912	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv890627	chr8:19389865-19561997	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv610754	chr8:19419494-19525294	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1021575	chr8:19430653-19623452	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1025271	chr8:19435147-19574969	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv6106	chr8:19499554-19544249	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1021731	chr8:19515149-19643313	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19516600-19525000	Enhancers	Placenta	Placenta
2	chr8:19518200-19524000	Enhancers	NHEK	skin
3	chr8:19518200-19524200	Enhancers	Placenta Amnion	Placenta Amnion
4	chr8:19518600-19524000	Enhancers	HMEC	breast
5	chr8:19519800-19523800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:19519800-19524200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:19520000-19524200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:19520200-19523200	Enhancers	Right Atrium	heart
9	chr8:19520200-19523400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:19520200-19529000	Enhancers	Primary B cells from cord blood	blood
11	chr8:19520400-19523800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:19520400-19523800	Enhancers	NH-A	brain
13	chr8:19520400-19527600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:19520400-19528600	Weak transcription	Brain Angular Gyrus	brain
15	chr8:19520400-19530400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr8:19520400-19539000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr8:19520400-19539400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr8:19520400-19539600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:19520600-19523800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:19520600-19523800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:19520600-19525000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr8:19520600-19527200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr8:19520600-19528400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr8:19520600-19528600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:19520600-19528600	Weak transcription	Lung	lung
26	chr8:19520600-19538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:19520600-19538800	Weak transcription	Esophagus	oesophagus
28	chr8:19520600-19538800	Weak transcription	Gastric	stomach
29	chr8:19521200-19523400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:19521200-19523600	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:19521400-19524000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr8:19521600-19524200	Enhancers	Osteobl	bone
33	chr8:19521800-19523800	Enhancers	NHDF-Ad	bronchial
34	chr8:19521800-19524200	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr8:19521800-19527200	Weak transcription	Aorta	Aorta
36	chr8:19521800-19527600	Weak transcription	Right Ventricle	heart
37	chr8:19522000-19523200	Weak transcription	Fetal Heart	heart
38	chr8:19522000-19523400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr8:19522200-19523200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:19522200-19523400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:19522200-19523800	Flanking Active TSS	HepG2	liver
42	chr8:19522200-19524000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:19522200-19524200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:19522200-19524200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:19522200-19524200	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:19522400-19523200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr8:19522400-19523600	Enhancers	NHLF	lung
48	chr8:19522400-19523800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr8:19522400-19524200	Enhancers	Ovary	ovary
50	chr8:19522400-19525200	Enhancers	Primary monocytes fromperipheralblood	blood

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