Variant report

Variant	rs28450634
Chromosome Location	chr15:50219830-50219831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2413983	0.92[ASN][1000 genomes]
rs2413995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57630985	0.90[AMR][1000 genomes]
rs58688343	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59508756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7171530	0.82[ASN][1000 genomes]
rs7175946	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73396998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7495057	0.92[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	nsv833003	chr15:50100372-50273309	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr15:50205400-50234400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr15:50210200-50232400	Strong transcription	Primary hematopoietic stem cells	blood
3	chr15:50210800-50226400	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr15:50211000-50227200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:50211400-50232400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr15:50217600-50226400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr15:50218000-50224000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:50218200-50220600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:50218600-50227200	Weak transcription	Liver	Liver
10	chr15:50219000-50220800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:50219400-50220200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr15:50219400-50220400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr15:50219600-50220000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr15:50219600-50220000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:50219600-50220400	Enhancers	NHLF	lung
16	chr15:50219800-50220200	Flanking Active TSS	NHDF-Ad	bronchial
17	chr15:50219800-50222800	Weak transcription	Placenta	Placenta
18	chr15:50219800-50223800	Weak transcription	Brain Substantia Nigra	brain

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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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