Variant report

Variant	rs198954
Chromosome Location	chr5:114723099-114723100
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2416405	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs269508	0.82[EUR][1000 genomes]
rs2963761	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73255968	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73255995	0.82[EUR][1000 genomes]
rs73261275	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73261279	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs897479	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs897480	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats 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	esv2757132	chr5:114697260-114737583	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2759370	chr5:114697260-114737583	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv882733	chr5:114702503-114726351	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114718000-114723200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr5:114718000-114723400	Weak transcription	NHLF	lung
3	chr5:114718000-114725200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:114720800-114724200	Weak transcription	Fetal Kidney	kidney
5	chr5:114721200-114725200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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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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