Variant report

Variant	rs4281594
Chromosome Location	chr13:40033068-40033069
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17060034	0.85[JPT][hapmap]
rs2324330	0.92[JPT][hapmap]
rs3812880	0.85[JPT][hapmap]
rs4281595	1.00[AFR][1000 genomes]
rs7331980	0.92[JPT][hapmap]
rs8002946	0.85[JPT][hapmap]
rs943567	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9576813	0.85[JPT][hapmap]
rs9576814	0.92[JPT][hapmap]
rs9603546	0.92[JPT][hapmap]

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	esv2754118	chr13:39347702-40222644	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1054600	chr13:39801283-40545027	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1011	chr13:40008962-40034177	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv561536	chr13:40015948-40043224	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
2	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:40026600-40033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:40027200-40033200	Weak transcription	HSMMtube	muscle
5	chr13:40027400-40033400	Weak transcription	Fetal Muscle Leg	muscle
6	chr13:40028200-40033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr13:40030400-40033400	Weak transcription	Right Atrium	heart
8	chr13:40030400-40034800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr13:40030400-40036000	Weak transcription	Fetal Lung	lung
10	chr13:40030400-40036200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:40032600-40033800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:40032600-40033800	Enhancers	Left Ventricle	heart
13	chr13:40032600-40035800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:40032600-40038000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr13:40032800-40033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:40032800-40036200	Enhancers	Fetal Heart	heart
17	chr13:40033000-40034000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr13:40033000-40034600	Enhancers	Ovary	ovary

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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