Variant report

Variant	rs7281074
Chromosome Location	chr21:40512004-40512005
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1041439	1.00[ASW][hapmap]
rs11910971	1.00[ASW][hapmap]
rs1984748	1.00[ASW][hapmap]
rs2142117	1.00[ASW][hapmap]
rs2150410	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs2272577	1.00[ASW][hapmap]
rs2410122	1.00[AFR][1000 genomes]
rs383967	1.00[ASW][hapmap]
rs413078	1.00[ASW][hapmap]
rs447988	1.00[ASW][hapmap]
rs6517528	1.00[ASW][hapmap]
rs6517532	1.00[ASW][hapmap]
rs6517541	1.00[ASW][hapmap]
rs7275773	1.00[ASW][hapmap]
rs8131150	1.00[ASW][hapmap]
rs8132230	1.00[ASW][hapmap]
rs973521	1.00[ASW][hapmap]
rs9982122	1.00[ASW][hapmap]

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	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr21:40509400-40513600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr21:40509600-40513200	Weak transcription	Placenta	Placenta
3	chr21:40509800-40513200	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:40509800-40513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr21:40509800-40513800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr21:40509800-40515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr21:40510200-40513400	Weak transcription	Fetal Lung	lung
8	chr21:40510600-40515000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr21:40511600-40513400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr21:40512000-40512400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:40512000-40514200	Enhancers	Fetal Thymus	thymus

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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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