Variant report

Variant	rs17506512
Chromosome Location	chr14:33063767-33063768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:33046699..33049313-chr14:33061563..33064082,2	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10144948	0.94[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10151427	0.94[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10483413	1.00[YRI][hapmap]
rs1155069	0.94[CEU][hapmap];0.82[JPT][hapmap];0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11626416	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12880113	0.91[CEU][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12887176	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17099322	1.00[JPT][hapmap]
rs17415416	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28401565	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981990	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981991	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71419918	0.91[AMR][1000 genomes]
rs751688	1.00[YRI][hapmap]

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	nsv1045035	chr14:32986003-33543227	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv542021	chr14:32986003-33543227	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:33057800-33078200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:33058200-33067400	Enhancers	NHDF-Ad	bronchial
3	chr14:33058600-33063800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:33058600-33063800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:33059400-33064600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:33059400-33072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:33060200-33064800	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr14:33060800-33066400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:33061000-33067400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr14:33061200-33064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:33061200-33064800	Enhancers	HSMMtube	muscle
12	chr14:33061400-33067200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:33061600-33064800	Enhancers	HSMM	muscle
14	chr14:33061600-33065000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:33061600-33067800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:33061800-33064600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr14:33061800-33064600	Enhancers	NH-A	brain
18	chr14:33061800-33067400	Enhancers	HMEC	breast
19	chr14:33062000-33064800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:33062000-33066000	Enhancers	NHLF	lung
21	chr14:33062000-33066200	Enhancers	Osteobl	bone
22	chr14:33062200-33064200	Enhancers	Colon Smooth Muscle	Colon
23	chr14:33062200-33064200	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:33062200-33064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:33062200-33064600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:33062200-33064600	Enhancers	Psoas Muscle	Psoas
27	chr14:33062200-33064600	Enhancers	NHEK	skin
28	chr14:33062400-33064600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:33062400-33064600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:33062400-33064800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:33062400-33065000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:33062400-33066600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:33062600-33064000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr14:33062600-33064600	Enhancers	Brain Hippocampus Middle	brain
35	chr14:33062800-33063800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:33063000-33064000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:33063200-33064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr14:33063200-33064400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr14:33063400-33063800	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:33063400-33064600	Enhancers	Brain Substantia Nigra	brain
41	chr14:33063600-33064000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr14:33063600-33064000	Enhancers	Aorta	Aorta
43	chr14:33063600-33064600	Enhancers	Brain Anterior Caudate	brain
44	chr14:33063600-33064600	Enhancers	Left Ventricle	heart
45	chr14:33063600-33064600	Enhancers	Right Ventricle	heart
46	chr14:33063600-33064800	Enhancers	Right Atrium	heart
47	chr14:33063600-33067600	Weak transcription	Fetal Heart	heart

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