Variant report

Variant	rs28720946
Chromosome Location	chr8:67632590-67632591
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:67623453..67627888-chr8:67632355..67635067,5	MCF-7	breast:
2	chr8:67349293..67351792-chr8:67631469..67633629,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147576	Chromatin interaction
ENSG00000104205	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16933106	0.92[ASN][1000 genomes]
rs1864606	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357998	0.81[ASN][1000 genomes]
rs28417755	1.00[ASN][1000 genomes]
rs4592015	0.92[ASN][1000 genomes]
rs56810217	0.81[ASN][1000 genomes]
rs59058682	0.81[EUR][1000 genomes]
rs61589642	0.87[EUR][1000 genomes]
rs73253964	0.87[EUR][1000 genomes]
rs7820420	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67625600-67640600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:67625600-67643600	Weak transcription	Gastric	stomach
3	chr8:67625800-67650600	Weak transcription	Aorta	Aorta
4	chr8:67626200-67651200	Weak transcription	Right Ventricle	heart
5	chr8:67626200-67657600	Weak transcription	Lung	lung
6	chr8:67626200-67664400	Weak transcription	Ovary	ovary
7	chr8:67626200-67665200	Weak transcription	Fetal Stomach	stomach
8	chr8:67626400-67633200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:67626400-67633400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr8:67626400-67633600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr8:67626400-67639800	Weak transcription	Right Atrium	heart
12	chr8:67626600-67643800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:67626800-67639400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr8:67626800-67660600	Weak transcription	HSMMtube	muscle
15	chr8:67627000-67632600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr8:67627000-67638000	Weak transcription	Fetal Intestine Small	intestine
17	chr8:67627200-67633400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:67627200-67633400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr8:67627200-67650400	Weak transcription	Adipose Nuclei	Adipose
20	chr8:67627200-67660200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr8:67627200-67665600	Weak transcription	Left Ventricle	heart
22	chr8:67627400-67649600	Weak transcription	Fetal Intestine Large	intestine
23	chr8:67628200-67633400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:67628600-67633200	Weak transcription	Brain Angular Gyrus	brain
25	chr8:67628600-67633200	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:67628600-67633200	Weak transcription	HepG2	liver
27	chr8:67628600-67633400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:67628600-67633400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:67628600-67633400	Weak transcription	Brain Substantia Nigra	brain
30	chr8:67628600-67633400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:67628600-67638000	Weak transcription	Osteobl	bone
32	chr8:67628600-67640000	Weak transcription	Pancreas	Pancrea
33	chr8:67628800-67651200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr8:67629000-67633200	Weak transcription	Primary hematopoietic stem cells	blood
35	chr8:67629000-67633200	Weak transcription	Brain Anterior Caudate	brain
36	chr8:67629000-67633200	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr8:67629000-67650600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr8:67629200-67633800	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr8:67629400-67633200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:67630800-67639600	Weak transcription	Liver	Liver
41	chr8:67631200-67634600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr8:67631600-67632600	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr8:67631800-67632600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:67632000-67632600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr8:67632000-67632600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:67632200-67632600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr8:67632200-67632800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr8:67632400-67632800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr8:67632400-67638200	Weak transcription	NH-A	brain

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