Variant report

Variant	rs8130177
Chromosome Location	chr21:15852077-15852078
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12329678	1.00[EUR][1000 genomes]
rs12329818	1.00[EUR][1000 genomes]
rs28579323	1.00[EUR][1000 genomes]
rs6516815	1.00[EUR][1000 genomes]
rs7279926	1.00[EUR][1000 genomes]
rs7282081	1.00[EUR][1000 genomes]
rs8130525	1.00[EUR][1000 genomes]
rs8132024	1.00[EUR][1000 genomes]
rs9305297	1.00[EUR][1000 genomes]
rs9305311	1.00[EUR][1000 genomes]
rs9974277	1.00[EUR][1000 genomes]
rs9975031	1.00[EUR][1000 genomes]
rs9976092	1.00[EUR][1000 genomes]
rs9976969	1.00[EUR][1000 genomes]
rs9977174	1.00[EUR][1000 genomes]
rs9978061	1.00[EUR][1000 genomes]
rs9978892	1.00[EUR][1000 genomes]
rs9980948	1.00[EUR][1000 genomes]
rs9981182	1.00[EUR][1000 genomes]
rs9981787	1.00[EUR][1000 genomes]
rs9982477	1.00[EUR][1000 genomes]
rs9982509	1.00[EUR][1000 genomes]
rs9982684	1.00[EUR][1000 genomes]
rs9982971	1.00[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	nsv1063703	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv544375	chr21:15777995-15882121	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1059591	chr21:15835325-15969195	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1056423	chr21:15838309-15948474	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr21:15847800-15874800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr21:15849200-15854600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr21:15849600-15854200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr21:15850600-15853000	Weak transcription	Brain Substantia Nigra	brain
5	chr21:15851000-15854800	Enhancers	Fetal Brain Male	brain
6	chr21:15851600-15853200	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr21:15851600-15856400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr21:15851800-15855800	Enhancers	K562	blood
9	chr21:15852000-15852600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr21:15852000-15853000	Weak transcription	Fetal Brain Female	brain
11	chr21:15852000-15853400	Enhancers	Brain Germinal Matrix	brain

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Input of quick search could be:

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

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