Variant report

Variant	rs74091488
Chromosome Location	chr12:59429598-59429599
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17121951	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122004	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122012	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41341248	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60583762	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091473	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094531	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74094541	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7961788	0.89[AFR][1000 genomes]
rs7980955	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59417600-59430200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:59424800-59429800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:59424800-59430800	Weak transcription	HSMM	muscle
4	chr12:59425400-59433800	Weak transcription	Pancreas	Pancrea
5	chr12:59427000-59430200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:59427200-59430200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr12:59427600-59430800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:59427800-59430600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:59428800-59433600	Weak transcription	Esophagus	oesophagus
10	chr12:59429400-59430000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr12:59429400-59430000	Weak transcription	Stomach Mucosa	stomach
12	chr12:59429400-59431600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte 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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