Variant report

Variant	rs12888500
Chromosome Location	chr14:32878062-32878063
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32866943..32869881-chr14:32876415..32878628,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11156742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11624620	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627622	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12436868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12879580	0.90[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12881908	0.87[AFR][1000 genomes]
rs12895473	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17098988	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098990	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1885131	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957000	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957001	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957002	0.81[AFR][1000 genomes]
rs1957004	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2383300	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35534415	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784183	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784184	1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825750	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981154	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981961	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981962	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981965	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61981113	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013938	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs941742	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs941743	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[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	esv2758352	chr14:32858480-33016442	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv2759978	chr14:32858480-33016442	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32867600-32882800	Weak transcription	Fetal Brain Female	brain
2	chr14:32870200-32883000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:32873800-32881600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:32874200-32879200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:32874400-32878400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:32874400-32878600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:32875200-32878600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr14:32876000-32879800	Enhancers	Colon Smooth Muscle	Colon
9	chr14:32876600-32878200	Enhancers	Rectal Smooth Muscle	rectum
10	chr14:32876800-32895800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:32877000-32883200	Weak transcription	Brain Germinal Matrix	brain
12	chr14:32877200-32881200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:32877200-32882400	Weak transcription	Left Ventricle	heart
14	chr14:32877400-32878600	Enhancers	Brain Hippocampus Middle	brain
15	chr14:32877400-32878800	Enhancers	Brain Substantia Nigra	brain
16	chr14:32877400-32881600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:32877400-32882600	Weak transcription	Fetal Heart	heart
18	chr14:32877400-32882800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:32877400-32886000	Weak transcription	HSMMtube	muscle
20	chr14:32877600-32886200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr14:32877800-32878200	Weak transcription	Brain Angular Gyrus	brain
22	chr14:32878000-32880200	Weak transcription	Brain Anterior Caudate	brain
23	chr14:32878000-32880200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr14:32878000-32881200	Weak transcription	Brain Inferior Temporal Lobe	brain

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