Variant report

Variant	rs73120989
Chromosome Location	chr12:41671934-41671935
allele	A/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:7)

rs_ID	r²[population]
rs73120971	1.00[AMR][1000 genomes]
rs73120972	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120981	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73120991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73122845	0.97[AFR][1000 genomes];1.00[AMR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41670600-41672200	Enhancers	Brain Germinal Matrix	brain
2	chr12:41671200-41672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:41671200-41684600	Weak transcription	Ovary	ovary
4	chr12:41671400-41674200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr12:41671600-41672000	Enhancers	Brain Angular Gyrus	brain
6	chr12:41671600-41672600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:41671600-41672800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:41671600-41672800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr12:41671800-41672400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:41671800-41680200	Weak transcription	Colon Smooth Muscle	Colon

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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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