Variant report

Variant	rs7516567
Chromosome Location	chr1:78955879-78955880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11162483	0.85[LWK][hapmap]
rs1265657	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs1265663	1.00[AMR][1000 genomes]
rs1322930	1.00[AMR][1000 genomes]
rs1322932	1.00[AMR][1000 genomes]
rs1322936	0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs1333979	1.00[AMR][1000 genomes]
rs1412846	1.00[AMR][1000 genomes]
rs17101751	1.00[AMR][1000 genomes]
rs17101783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs487376	0.85[LWK][hapmap]
rs494131	1.00[AMR][1000 genomes]
rs559854	1.00[AMR][1000 genomes]
rs564407	1.00[AMR][1000 genomes]
rs569846	1.00[AMR][1000 genomes]
rs581338	1.00[AMR][1000 genomes]
rs599583	1.00[AMR][1000 genomes]
rs601137	1.00[AMR][1000 genomes]
rs602865	1.00[AMR][1000 genomes]
rs640003	1.00[AMR][1000 genomes]
rs645528	0.85[LWK][hapmap];1.00[AMR][1000 genomes]
rs663485	1.00[AMR][1000 genomes]
rs676130	1.00[AMR][1000 genomes]
rs689110	1.00[AMR][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	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78950000-78956200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:78950000-78956200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:78950200-78956200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:78950400-78956600	Weak transcription	Spleen	Spleen
5	chr1:78954000-78956200	Weak transcription	HSMM	muscle
6	chr1:78955600-78956000	Enhancers	NHDF-Ad	bronchial
7	chr1:78955800-78956000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:78955800-78956200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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