Variant report

Variant	rs548780
Chromosome Location	chr15:50012256-50012257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11639118	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11854482	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs60130190	1.00[ASN][1000 genomes]
rs62022673	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs691944	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv569393	chr15:49977687-50012256	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50004400-50014200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr15:50005800-50013200	Weak transcription	Fetal Muscle Leg	muscle
3	chr15:50009200-50014200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:50010000-50014200	Enhancers	NHDF-Ad	bronchial
5	chr15:50010600-50012800	Enhancers	Osteobl	bone
6	chr15:50010600-50014000	Enhancers	Adipose Nuclei	Adipose
7	chr15:50010800-50013000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:50011400-50012600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:50011400-50013600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:50011600-50013400	Enhancers	Monocytes-CD14+_RO01746	blood
11	chr15:50012000-50013200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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