Variant report

Variant	rs17253058
Chromosome Location	chr8:124559709-124559710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124525454..124527637-chr8:124558520..124561372,2	K562	blood:
2	chr8:124559432..124561596-chr8:124564087..124567565,3	MCF-7	breast:
3	chr8:124559237..124561974-chr8:124607116..124608954,2	MCF-7	breast:
4	chr8:124558876..124561148-chr8:124573181..124575247,2	MCF-7	breast:
5	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
6	chr8:124558984..124560715-chr8:124570075..124571667,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10505433	1.00[ASN][1000 genomes]
rs12549584	0.87[ASN][1000 genomes]
rs16898561	0.87[ASN][1000 genomes]
rs16898583	0.85[CHB][hapmap]
rs35542655	0.88[EUR][1000 genomes];0.92[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	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	nsv525827	chr8:124555235-124565311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124554400-124563600	Weak transcription	Aorta	Aorta
2	chr8:124554600-124560200	Weak transcription	Small Intestine	intestine
3	chr8:124554600-124560200	Weak transcription	NHLF	lung
4	chr8:124554600-124560800	Weak transcription	Esophagus	oesophagus
5	chr8:124554600-124562400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:124554600-124563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:124554600-124563600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:124558600-124559800	Enhancers	Stomach Smooth Muscle	stomach
9	chr8:124558800-124559800	Enhancers	Rectal Smooth Muscle	rectum
10	chr8:124558800-124560000	Enhancers	GM12878-XiMat	blood
11	chr8:124558800-124560200	Enhancers	HMEC	breast
12	chr8:124558800-124560600	Enhancers	HSMM	muscle
13	chr8:124558800-124560800	Enhancers	A549	lung
14	chr8:124558800-124560800	Enhancers	Hela-S3	cervix
15	chr8:124558800-124560800	Enhancers	HSMMtube	muscle
16	chr8:124558800-124561000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr8:124558800-124561000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr8:124558800-124561200	Enhancers	Osteobl	bone
19	chr8:124558800-124561400	Enhancers	NHDF-Ad	bronchial
20	chr8:124558800-124571400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr8:124559000-124560200	Enhancers	NHEK	skin
22	chr8:124559000-124560600	Enhancers	NH-A	brain
23	chr8:124559000-124560800	Enhancers	Duodenum Mucosa	Duodenum
24	chr8:124559000-124561000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:124559000-124561000	Enhancers	Muscle Satellite Cultured Cells	--
26	chr8:124559000-124561000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:124559200-124560400	Enhancers	Ovary	ovary
28	chr8:124559200-124560600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:124559200-124560600	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr8:124559200-124560800	Enhancers	Stomach Mucosa	stomach
31	chr8:124559200-124561000	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr8:124559200-124561200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr8:124559200-124561200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:124559400-124560000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr8:124559400-124560200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr8:124559400-124563400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:124559400-124564800	Weak transcription	Fetal Lung	lung
38	chr8:124559400-124564800	Weak transcription	Fetal Stomach	stomach
39	chr8:124559600-124560000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr8:124559600-124560600	Enhancers	Fetal Heart	heart
41	chr8:124559600-124564800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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