Variant report

Variant	rs2383300
Chromosome Location	chr14:32884437-32884438
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:32730953..32733918-chr14:32882288..32884788,2	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	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624620	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11627622	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12436868	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879580	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12881908	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12888500	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12895473	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17098988	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17098990	0.86[AFR][1000 genomes]
rs1885131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957001	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957002	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1957004	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35534415	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3784184	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3825750	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981154	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981961	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981962	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4981964	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61981113	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8013938	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941742	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941743	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:32876800-32895800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:32877400-32886000	Weak transcription	HSMMtube	muscle
3	chr14:32877600-32886200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:32880200-32884600	Enhancers	Brain Angular Gyrus	brain
5	chr14:32880200-32889000	Enhancers	Brain Cingulate Gyrus	brain
6	chr14:32881600-32887000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr14:32882600-32884600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr14:32882600-32888800	Enhancers	Brain Hippocampus Middle	brain
9	chr14:32882800-32884600	Enhancers	HUVEC	blood vessel
10	chr14:32883200-32884600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:32883200-32884800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:32883400-32886200	Weak transcription	Psoas Muscle	Psoas
13	chr14:32883400-32886400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:32883600-32884800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:32883600-32886000	Weak transcription	Fetal Brain Female	brain
16	chr14:32884200-32886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:32884200-32886600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:32884200-32886600	Weak transcription	HMEC	breast
19	chr14:32884200-32887000	Weak transcription	Brain Germinal Matrix	brain
20	chr14:32884200-32887200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:32884200-32887200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr14:32884200-32887200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:32884400-32884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:32884400-32885400	Weak transcription	Brain Anterior Caudate	brain
25	chr14:32884400-32885400	Weak transcription	Brain Substantia Nigra	brain
26	chr14:32884400-32886200	Weak transcription	Fetal Heart	heart
27	chr14:32884400-32886200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr14:32884400-32886200	Weak transcription	HSMM	muscle
29	chr14:32884400-32886600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr14:32884400-32886600	Weak transcription	NHEK	skin
31	chr14:32884400-32887200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr14:32884400-32887200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:32884400-32887200	Weak transcription	Colon Smooth Muscle	Colon

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