Variant report

Variant	rs7294791
Chromosome Location	chr12:104428612-104428613
allele	C/T
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:11)

rs_ID	r²[population]
rs17035135	1.00[EUR][1000 genomes]
rs58131303	1.00[EUR][1000 genomes]
rs58937971	0.89[EUR][1000 genomes]
rs6539118	1.00[EUR][1000 genomes]
rs6539119	1.00[EUR][1000 genomes]
rs7132060	1.00[EUR][1000 genomes]
rs7303182	1.00[EUR][1000 genomes]
rs7306864	1.00[EUR][1000 genomes]
rs7315363	1.00[EUR][1000 genomes]
rs7315396	1.00[EUR][1000 genomes]
rs7960212	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 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	chr12:104408800-104442200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:104415200-104435200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:104420000-104435200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr12:104421200-104435200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:104424800-104438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104428000-104434200	Weak transcription	Fetal Stomach	stomach
7	chr12:104428400-104439000	Weak transcription	H1 Derived Mesenchymal Stem 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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