Variant report

Variant	rs11953322
Chromosome Location	chr5:112031820-112031821
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11948681	1.00[EUR][1000 genomes]
rs11949316	1.00[AMR][1000 genomes]
rs11949744	1.00[AMR][1000 genomes]
rs11950732	1.00[EUR][1000 genomes]
rs11952365	1.00[AMR][1000 genomes]
rs11955449	1.00[AMR][1000 genomes]
rs13358140	0.94[YRI][hapmap]
rs17134862	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2289485	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3887380	0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs62626346	1.00[EUR][1000 genomes]
rs6867422	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6868149	1.00[EUR][1000 genomes]
rs6876301	1.00[EUR][1000 genomes]
rs6888572	0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7719122	1.00[AMR][1000 genomes]
rs7722209	1.00[AMR][1000 genomes]
rs7724741	1.00[EUR][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	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830450	chr5:111964170-112134510	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112027000-112032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:112030400-112032000	Enhancers	Dnd41	blood
3	chr5:112031400-112032800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:112031400-112033000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:112031400-112033200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:112031400-112034000	Enhancers	K562	blood
7	chr5:112031600-112033600	Weak transcription	Aorta	Aorta

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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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