Variant report

Variant	rs28859105
Chromosome Location	chr8:124631496-124631497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124539471..124542410-chr8:124630471..124632625,2	MCF-7	breast:
2	chr8:124614662..124616733-chr8:124630973..124633484,2	MCF-7	breast:
3	chr8:124630020..124633411-chr8:124643439..124646269,5	MCF-7	breast:
4	chr8:124630537..124633840-chr8:124641197..124643373,3	MCF-7	breast:
5	chr8:124630464..124632605-chr8:124778589..124780623,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10101723	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11786123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11786342	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16898653	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28522167	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28587740	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28609787	1.00[ASN][1000 genomes]
rs59332090	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62518566	1.00[ASN][1000 genomes]
rs73335895	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73337515	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7821932	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7826158	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7838242	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7838470	0.82[AFR][1000 genomes];1.00[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124624000-124635200	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:124625200-124634800	Weak transcription	Placenta	Placenta
3	chr8:124626000-124632000	Weak transcription	NHEK	skin
4	chr8:124626600-124633200	Enhancers	Fetal Heart	heart
5	chr8:124626800-124632000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:124627400-124632600	Enhancers	HSMM	muscle
7	chr8:124627400-124633000	Enhancers	HSMMtube	muscle
8	chr8:124628200-124632600	Enhancers	Fetal Muscle Leg	muscle
9	chr8:124628400-124632600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:124628400-124633000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr8:124628400-124633800	Enhancers	Osteobl	bone
12	chr8:124628600-124632800	Enhancers	Fetal Stomach	stomach
13	chr8:124629200-124633000	Enhancers	Colon Smooth Muscle	Colon
14	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
15	chr8:124629600-124631600	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr8:124630000-124631600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:124630000-124631600	Enhancers	Left Ventricle	heart
18	chr8:124630000-124632000	Enhancers	Psoas Muscle	Psoas
19	chr8:124630000-124632200	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr8:124630200-124631800	Enhancers	Brain Hippocampus Middle	brain
21	chr8:124630200-124632600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:124630400-124632400	Enhancers	Brain Substantia Nigra	brain
23	chr8:124630400-124635600	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr8:124630600-124633000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:124630600-124633000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:124630800-124631600	Enhancers	Brain Angular Gyrus	brain
27	chr8:124630800-124631600	Enhancers	Brain Anterior Caudate	brain
28	chr8:124630800-124631600	Enhancers	Brain Cingulate Gyrus	brain
29	chr8:124630800-124631600	Enhancers	Rectal Smooth Muscle	rectum
30	chr8:124630800-124632000	Weak transcription	Fetal Lung	lung
31	chr8:124630800-124632000	Weak transcription	Ovary	ovary
32	chr8:124630800-124632000	Weak transcription	Right Ventricle	heart
33	chr8:124630800-124632400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:124630800-124632600	Enhancers	NH-A	brain
35	chr8:124630800-124635400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr8:124631000-124631600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:124631000-124631600	Enhancers	NHDF-Ad	bronchial
38	chr8:124631000-124632000	ZNF genes & repeats	K562	blood
39	chr8:124631200-124631800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:124631200-124631800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr8:124631200-124632800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:124631200-124634200	Enhancers	HMEC	breast
43	chr8:124631200-124643000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr8:124631400-124631600	Enhancers	NHLF	lung
45	chr8:124631400-124632400	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr8:124631400-124633200	Enhancers	HepG2	liver

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