Variant report

Variant	rs17254881
Chromosome Location	chr8:124643075-124643076
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124637761..124639286-chr8:124642361..124644440,2	MCF-7	breast:
2	chr8:124553676..124556595-chr8:124642690..124644811,2	MCF-7	breast:
3	chr8:124635851..124638436-chr8:124639907..124645326,4	MCF-7	breast:
4	chr8:124630537..124633840-chr8:124641197..124643373,3	MCF-7	breast:
5	chr8:124578047..124580676-chr8:124642644..124645333,2	MCF-7	breast:
6	chr8:124642600..124645867-chr8:124673711..124676775,3	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10216826	1.00[CHB][hapmap]
rs10956138	1.00[CHB][hapmap]
rs11991567	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12547295	1.00[CHB][hapmap]
rs12550449	1.00[CEU][hapmap]
rs16898637	0.95[EUR][1000 genomes]
rs17254013	1.00[CHB][hapmap]
rs17255218	0.87[EUR][1000 genomes]
rs35947475	0.93[EUR][1000 genomes]
rs6470148	1.00[CHB][hapmap]
rs7825404	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9297669	1.00[CHB][hapmap]

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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124629200-124645400	Weak transcription	Aorta	Aorta
2	chr8:124640200-124647800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:124640800-124646600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr8:124641400-124646400	Enhancers	HMEC	breast
5	chr8:124641600-124643400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:124641600-124643600	Enhancers	Hela-S3	cervix
7	chr8:124641600-124643600	Enhancers	NHEK	skin
8	chr8:124641600-124643800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr8:124641600-124643800	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr8:124641600-124646000	Enhancers	NHDF-Ad	bronchial
11	chr8:124641800-124643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr8:124641800-124643400	Enhancers	Fetal Heart	heart
13	chr8:124641800-124643400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr8:124641800-124643800	Enhancers	Osteobl	bone
15	chr8:124641800-124646200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
17	chr8:124642200-124643200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr8:124642200-124643200	Flanking Active TSS	A549	lung
19	chr8:124642200-124643200	Enhancers	NHLF	lung
20	chr8:124642200-124643800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr8:124642400-124643200	Enhancers	HSMMtube	muscle
22	chr8:124642400-124643400	Flanking Active TSS	K562	blood
23	chr8:124642400-124643600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:124642400-124643800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:124642400-124643800	Enhancers	HSMM	muscle
26	chr8:124642400-124646800	Enhancers	NH-A	brain
27	chr8:124642600-124643200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr8:124642600-124643200	Enhancers	Esophagus	oesophagus
29	chr8:124642600-124643200	Enhancers	Psoas Muscle	Psoas
30	chr8:124642600-124643800	Enhancers	Left Ventricle	heart
31	chr8:124642600-124644000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr8:124642600-124644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr8:124642800-124643200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr8:124642800-124643200	Enhancers	Placenta	Placenta
35	chr8:124642800-124643200	Enhancers	Right Atrium	heart
36	chr8:124643000-124643200	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr8:124643000-124643400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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