Variant report

Variant	rs41393950
Chromosome Location	chr5:70958845-70958846
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2874177	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34335086	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34529158	0.86[ASN][1000 genomes]
rs35131626	0.86[ASN][1000 genomes]
rs35169009	0.86[ASN][1000 genomes]
rs56355213	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61745953	0.86[ASN][1000 genomes]
rs71624246	0.86[ASN][1000 genomes]
rs73124704	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124706	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73124712	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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	28 gene(s)	inside rSNPs	diseases
2	nsv830340	chr5:70797113-70967110	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv532805	chr5:70916228-71020967	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70953200-70959000	Weak transcription	A549	lung
2	chr5:70954000-70961200	Weak transcription	Esophagus	oesophagus
3	chr5:70954400-70960000	Weak transcription	Fetal Kidney	kidney
4	chr5:70958400-70960200	Enhancers	Hela-S3	cervix
5	chr5:70958800-70960000	Enhancers	HepG2	liver

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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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