Variant report

Variant	rs59338775
Chromosome Location	chr12:117845439-117845440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11068433	1.00[AMR][1000 genomes]
rs12300042	1.00[AMR][1000 genomes]
rs16947411	1.00[AMR][1000 genomes]
rs41376150	1.00[AMR][1000 genomes]
rs57467298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59461295	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61649589	1.00[AMR][1000 genomes]
rs73395922	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395927	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395945	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395955	1.00[AMR][1000 genomes]
rs73395964	1.00[AMR][1000 genomes]
rs73395966	1.00[AMR][1000 genomes]
rs73395976	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73395979	1.00[AMR][1000 genomes]
rs73395994	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397517	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73409551	1.00[AMR][1000 genomes]
rs73411417	1.00[AMR][1000 genomes]
rs73411437	1.00[AMR][1000 genomes]
rs9658372	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv455724	chr12:117786105-117845806	Bivalent Enhancer Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv560385	chr12:117786105-117845806	Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv560386	chr12:117822187-117991547	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr12:117831800-117845800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr12:117839200-117846200	Weak transcription	Psoas Muscle	Psoas
3	chr12:117843200-117845800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:117843200-117846000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:117844800-117847800	Enhancers	Pancreas	Pancrea
6	chr12:117845000-117846000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:117845400-117845600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr12:117845400-117846200	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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