Variant report

Variant	rs12893284
Chromosome Location	chr14:79949920-79949921
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1080128	0.82[ASN][1000 genomes]
rs11849345	0.82[ASN][1000 genomes]
rs2217889	0.82[ASN][1000 genomes]
rs61995180	0.82[ASN][1000 genomes]
rs74070249	0.81[ASN][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	nsv902110	chr14:79624492-79998294	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:79940200-79950000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr14:79946800-79950000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr14:79949000-79950400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr14:79949000-79950600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr14:79949000-79950600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:79949000-79950600	Enhancers	Brain Angular Gyrus	brain
7	chr14:79949200-79950600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:79949200-79950800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:79949200-79951000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr14:79949200-79951000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr14:79949200-79951000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr14:79949200-79951200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr14:79949600-79950400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:79949600-79950600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:79949600-79950600	Enhancers	Brain Substantia Nigra	brain
16	chr14:79949600-79951200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:79949800-79950200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:79949800-79950600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:79949800-79950600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr14:79949800-79950600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:79949800-79950600	Enhancers	NH-A	brain
22	chr14:79949800-79951000	Enhancers	H9 Cell Line	embryonic stem cell

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