Variant report

Variant	rs57259770
Chromosome Location	chr12:41636268-41636269
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11392694	0.92[AFR][1000 genomes]
rs11830850	0.88[AFR][1000 genomes]
rs11835868	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1431120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129118	0.95[AFR][1000 genomes]
rs17129138	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17129140	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1897230	0.85[AFR][1000 genomes]
rs58479177	0.88[AFR][1000 genomes]
rs58686550	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58695957	0.88[AFR][1000 genomes]
rs59215090	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59820351	0.90[AFR][1000 genomes]
rs73117069	0.92[AFR][1000 genomes]
rs73117071	0.92[AFR][1000 genomes]
rs73119031	0.90[AFR][1000 genomes]
rs73119042	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73119065	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41623600-41637000	Weak transcription	Ovary	ovary
2	chr12:41635400-41636800	Enhancers	Fetal Lung	lung
3	chr12:41635600-41637000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:41635600-41637000	Enhancers	Colon Smooth Muscle	Colon
5	chr12:41635800-41636800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:41635800-41636800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr12:41635800-41637200	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:41636200-41636600	Weak transcription	Stomach Smooth Muscle	stomach

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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