Variant report

Variant	rs7297406
Chromosome Location	chr12:46897930-46897931
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11183519	0.85[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12301825	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12311952	0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12318944	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17097091	0.85[CHB][hapmap];0.81[JPT][hapmap]
rs1946174	0.88[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4768124	0.85[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4768740	0.85[JPT][hapmap]
rs59408501	0.91[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7132144	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7136117	0.83[AMR][1000 genomes]
rs7310614	0.84[JPT][hapmap]
rs7487359	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7487705	0.89[AMR][1000 genomes]
rs7976785	0.93[AMR][1000 genomes];0.96[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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 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	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46890800-46899600	Weak transcription	NH-A	brain
3	chr12:46893400-46911600	Weak transcription	Osteobl	bone
4	chr12:46897200-46899600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46897600-46898200	Flanking Active TSS	NHEK	skin
6	chr12:46897600-46899000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:46897800-46899600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:46897800-46899600	Weak transcription	Primary B cells from peripheral blood	blood

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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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