Variant report

Variant	rs17454681
Chromosome Location	chr7:50923571-50923572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10233389	0.85[CEU][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1023633	0.89[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10264737	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10267953	0.81[CEU][hapmap]
rs12718972	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17454517	0.85[CEU][hapmap]
rs2161825	0.89[CEU][hapmap]
rs28626771	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35008384	0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6593249	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6593251	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6593252	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7779063	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9642401	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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	nsv606907	chr7:50899168-51195380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50911400-50925600	Weak transcription	Pancreas	Pancrea
2	chr7:50919200-50924200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:50919800-50924600	Weak transcription	Osteobl	bone
4	chr7:50920200-50924800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:50920200-50924800	Weak transcription	Fetal Heart	heart
6	chr7:50922200-50923600	Enhancers	Esophagus	oesophagus
7	chr7:50922600-50924200	Weak transcription	Right Ventricle	heart
8	chr7:50923400-50923800	Active TSS	Spleen	Spleen

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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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