Variant report

Variant	rs1808450
Chromosome Location	chr16:79691789-79691790
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79691420..79693874-chr16:79695048..79697845,4	MCF-7	breast:
2	chr16:79682792..79686602-chr16:79687950..79693094,4	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10514466	0.80[EUR][1000 genomes]
rs11150182	0.82[EUR][1000 genomes]
rs11150185	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11150186	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1424235	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2348181	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4889005	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6564685	0.86[EUR][1000 genomes]
rs7184694	0.82[ASN][1000 genomes]
rs7204271	0.84[EUR][1000 genomes]
rs8055105	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv833295	chr16:79568878-79726768	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv906992	chr16:79649394-79769790	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr16:79685600-79692600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr16:79685800-79691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr16:79685800-79691800	Weak transcription	NH-A	brain
4	chr16:79687800-79692000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr16:79687800-79692800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:79688200-79691800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr16:79688200-79691800	Weak transcription	Fetal Brain Male	brain
8	chr16:79688200-79692000	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr16:79688200-79698400	Weak transcription	Right Atrium	heart
10	chr16:79688800-79691800	Weak transcription	NHEK	skin
11	chr16:79689400-79692000	Weak transcription	Fetal Thymus	thymus
12	chr16:79690200-79694200	Enhancers	Esophagus	oesophagus
13	chr16:79690400-79692200	Enhancers	Fetal Intestine Small	intestine
14	chr16:79690400-79693200	Enhancers	Fetal Intestine Large	intestine
15	chr16:79690400-79694600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr16:79690600-79693000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:79690600-79693600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr16:79691000-79692000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr16:79691000-79694000	Enhancers	HSMM	muscle
20	chr16:79691200-79692400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr16:79691200-79692400	Weak transcription	Brain Germinal Matrix	brain
22	chr16:79691200-79692400	Weak transcription	Placenta	Placenta
23	chr16:79691200-79692800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:79691200-79698200	Weak transcription	Fetal Lung	lung
25	chr16:79691400-79691800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:79691400-79691800	Weak transcription	Stomach Mucosa	stomach
27	chr16:79691400-79692000	Weak transcription	Gastric	stomach
28	chr16:79691400-79692400	Enhancers	HMEC	breast
29	chr16:79691400-79692600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr16:79691400-79692800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:79691400-79692800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr16:79691400-79692800	Enhancers	Muscle Satellite Cultured Cells	--
33	chr16:79691600-79692400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:79691600-79693000	Enhancers	HSMMtube	muscle
35	chr16:79691600-79693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr16:79691600-79693400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr16:79691600-79695000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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