Variant report

Variant	rs6878790
Chromosome Location	chr5:114882201-114882202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10038493	0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10041776	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10053572	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1015812	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13184723	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13356084	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13357862	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2546484	0.80[ASN][1000 genomes]
rs256938	0.80[ASN][1000 genomes]
rs256977	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs372702	0.80[ASN][1000 genomes]
rs6860557	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6892071	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6894123	0.80[ASN][1000 genomes]
rs766454	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9326964	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[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	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
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3428371	chr5:114880442-114882878	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr5:114881000-114886400	Weak transcription	Stomach Mucosa	stomach
2	chr5:114881000-114893200	Weak transcription	Right Ventricle	heart
3	chr5:114881200-114882400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:114881200-114887200	Weak transcription	NH-A	brain
5	chr5:114881400-114886400	Weak transcription	Fetal Lung	lung
6	chr5:114881400-114886800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr5:114882200-114882600	ZNF genes & repeats	H1 Derived Neuronal Progenitor 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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