Variant report

Variant	rs17393664
Chromosome Location	chr5:114837748-114837749
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11740361	0.95[EUR][1000 genomes]
rs1427860	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17137978	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17393505	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17395548	0.86[TSI][hapmap];0.80[EUR][1000 genomes]
rs17395582	0.80[EUR][1000 genomes]
rs17472256	0.95[EUR][1000 genomes]
rs17472710	0.95[EUR][1000 genomes]
rs17473792	0.80[EUR][1000 genomes]
rs17474216	0.80[EUR][1000 genomes]
rs3776801	1.00[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][1000 genomes]
rs3776802	0.95[EUR][1000 genomes]
rs7712026	1.00[GIH][hapmap];0.93[TSI][hapmap];0.95[EUR][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	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114830600-114838800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114835600-114838600	Enhancers	Fetal Heart	heart
3	chr5:114835800-114837800	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr5:114837000-114838200	Enhancers	Stomach Smooth Muscle	stomach
5	chr5:114837200-114838000	Enhancers	Fetal Stomach	stomach
6	chr5:114837600-114842800	Weak transcription	HSMMtube	muscle

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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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