Variant report

Variant	rs11242632
Chromosome Location	chr5:106565081-106565082
allele	A/G
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:14)

rs_ID	r²[population]
rs1345637	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1363311	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1422207	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1422208	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1549175	0.80[ASN][1000 genomes]
rs2410979	0.83[ASN][1000 genomes]
rs4143065	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4572985	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs56255936	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6596722	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs6596730	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6881511	0.84[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6888773	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7710569	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv882680	chr5:106493350-106573961	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv882681	chr5:106508913-106573961	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106564800-106565200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:106564800-106566200	Enhancers	Placenta Amnion	Placenta Amnion
3	chr5:106565000-106565400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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