Variant report

Variant	rs2144912
Chromosome Location	chr14:33063842-33063843
allele	G/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: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10135025	0.87[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs12432041	0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12435734	0.93[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17099322	0.82[CEU][hapmap]
rs1950701	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs1956209	0.94[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs768787	0.92[CEU][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:49 , 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	chr14:33059400-33064600	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr14:33059400-33072000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:33060200-33064800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr14:33060800-33066400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:33061000-33067400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:33061200-33064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:33061200-33064800	Enhancers	HSMMtube	muscle
10	chr14:33061400-33067200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:33061600-33064800	Enhancers	HSMM	muscle
12	chr14:33061600-33065000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr14:33061600-33067800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr14:33061800-33064600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:33061800-33064600	Enhancers	NH-A	brain
16	chr14:33061800-33067400	Enhancers	HMEC	breast
17	chr14:33062000-33064800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:33062000-33066000	Enhancers	NHLF	lung
19	chr14:33062000-33066200	Enhancers	Osteobl	bone
20	chr14:33062200-33064200	Enhancers	Colon Smooth Muscle	Colon
21	chr14:33062200-33064200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr14:33062200-33064600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:33062200-33064600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr14:33062200-33064600	Enhancers	Psoas Muscle	Psoas
25	chr14:33062200-33064600	Enhancers	NHEK	skin
26	chr14:33062400-33064600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:33062400-33064600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:33062400-33064800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:33062400-33065000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr14:33062400-33066600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:33062600-33064000	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr14:33062600-33064600	Enhancers	Brain Hippocampus Middle	brain
33	chr14:33063000-33064000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:33063200-33064400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:33063200-33064400	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr14:33063400-33064600	Enhancers	Brain Substantia Nigra	brain
37	chr14:33063600-33064000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:33063600-33064000	Enhancers	Aorta	Aorta
39	chr14:33063600-33064600	Enhancers	Brain Anterior Caudate	brain
40	chr14:33063600-33064600	Enhancers	Left Ventricle	heart
41	chr14:33063600-33064600	Enhancers	Right Ventricle	heart
42	chr14:33063600-33064800	Enhancers	Right Atrium	heart
43	chr14:33063600-33067600	Weak transcription	Fetal Heart	heart
44	chr14:33063800-33064600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:33063800-33064600	Enhancers	Brain Angular Gyrus	brain
46	chr14:33063800-33064800	Enhancers	Fetal Muscle Trunk	muscle
47	chr14:33063800-33064800	Enhancers	Fetal Muscle Leg	muscle
48	chr14:33063800-33064800	Enhancers	Fetal Stomach	stomach
49	chr14:33063800-33064800	Enhancers	Rectal Smooth Muscle	rectum

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