Variant report

Variant	rs28482415
Chromosome Location	chr8:8931625-8931626
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:8931477-8931691	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:8931465-8933806	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr8:8931317-8931644	K562	blood:	n/a	n/a
4	POLR2A	chr8:8931227-8933339	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:8923664..8926379-chr8:8930062..8932773,2	MCF-7	breast:
2	chr8:8928456..8932656-chr8:9005556..9008875,5	MCF-7	breast:
3	chr8:8931416..8936474-chr8:8938271..8941320,7	K562	blood:
4	chr8:8931608..8933862-chr8:9004172..9006310,2	MCF-7	breast:
5	chr8:8930610..8933089-chr8:8960499..8962552,2	MCF-7	breast:
6	chr8:8923309..8925417-chr8:8931144..8934790,3	K562	blood:

No data

Variant related genes	Relation type
RNU7-55P	TF binding region
ENSG00000173281	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10081498	1.00[EUR][1000 genomes]
rs10081588	1.00[EUR][1000 genomes]
rs10095271	1.00[EUR][1000 genomes]
rs10105124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17155175	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57395617	1.00[EUR][1000 genomes]
rs57859383	1.00[EUR][1000 genomes]
rs57935527	1.00[EUR][1000 genomes]
rs59021004	1.00[EUR][1000 genomes]
rs61648635	1.00[EUR][1000 genomes]
rs73520791	1.00[EUR][1000 genomes]
rs73520793	1.00[EUR][1000 genomes]
rs73520798	1.00[EUR][1000 genomes]
rs73522703	1.00[EUR][1000 genomes]
rs73522713	1.00[EUR][1000 genomes]
rs73522718	1.00[EUR][1000 genomes]
rs73526352	1.00[EUR][1000 genomes]
rs73526355	1.00[EUR][1000 genomes]
rs73526356	1.00[EUR][1000 genomes]
rs73526377	1.00[EUR][1000 genomes]
rs73526398	1.00[EUR][1000 genomes]
rs73528107	1.00[EUR][1000 genomes]
rs73528109	1.00[EUR][1000 genomes]
rs920973	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890331	chr8:8093240-8971100	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8916000-8935200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:8923800-8932000	Weak transcription	A549	lung
3	chr8:8924000-8932000	Weak transcription	Right Atrium	heart
4	chr8:8924000-8936200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr8:8924000-8937800	Weak transcription	Lung	lung
6	chr8:8924000-8939600	Weak transcription	Right Ventricle	heart
7	chr8:8924600-8932200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:8925000-8932000	Weak transcription	Fetal Lung	lung
9	chr8:8925200-8932200	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:8925200-8932600	Weak transcription	Liver	Liver
11	chr8:8928400-8932000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:8928400-8932000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:8928600-8931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr8:8928600-8932000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:8928600-8932000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:8928600-8932000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:8928600-8932000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr8:8928600-8932000	Weak transcription	HMEC	breast
19	chr8:8928600-8932000	Weak transcription	NHEK	skin
20	chr8:8928600-8932000	Weak transcription	Osteobl	bone
21	chr8:8928600-8933000	Weak transcription	Left Ventricle	heart
22	chr8:8928600-8933400	Weak transcription	Psoas Muscle	Psoas
23	chr8:8928600-8934200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:8928800-8931800	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr8:8928800-8932000	Weak transcription	NH-A	brain
26	chr8:8929200-8932000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:8929200-8932000	Weak transcription	Adipose Nuclei	Adipose
28	chr8:8929400-8932000	Weak transcription	NHDF-Ad	bronchial
29	chr8:8929400-8932400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr8:8929600-8940000	Weak transcription	Aorta	Aorta
31	chr8:8930000-8932000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:8930200-8932200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr8:8930200-8932400	Enhancers	K562	blood
34	chr8:8930200-8933200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr8:8930200-8940400	Enhancers	Fetal Intestine Large	intestine
36	chr8:8930400-8932000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:8930400-8932000	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:8930800-8931800	Weak transcription	Fetal Intestine Small	intestine
39	chr8:8930800-8932000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr8:8930800-8934200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr8:8930800-8935800	Enhancers	HUVEC	blood vessel
42	chr8:8930800-8936400	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr8:8931000-8932000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr8:8931000-8932000	Weak transcription	Fetal Heart	heart
45	chr8:8931000-8932000	Weak transcription	HSMM	muscle
46	chr8:8931000-8932000	Weak transcription	HSMMtube	muscle
47	chr8:8931000-8932200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr8:8931000-8932400	Weak transcription	Ovary	ovary
49	chr8:8931600-8932200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr8:8931600-8932800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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