Variant report

Variant	rs60290398
Chromosome Location	chr12:45981953-45981954
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10736028	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11183118	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096106	1.00[EUR][1000 genomes]
rs17121378	1.00[EUR][1000 genomes]
rs2408261	1.00[EUR][1000 genomes]
rs2544098	0.82[ASN][1000 genomes]
rs2712580	0.82[ASN][1000 genomes]
rs61654777	1.00[EUR][1000 genomes]
rs7312766	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73289029	1.00[EUR][1000 genomes]
rs73289049	1.00[EUR][1000 genomes]
rs73289052	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73289060	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73289064	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7980451	1.00[EUR][1000 genomes];0.87[ASN][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	nsv832395	chr12:45841765-46039297	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2751099	chr12:45960118-46043633	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv973061	chr12:45977176-45984724	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45976400-45987000	Weak transcription	Esophagus	oesophagus
2	chr12:45980400-45982400	Enhancers	Fetal Intestine Small	intestine
3	chr12:45980400-45982800	Enhancers	Stomach Mucosa	stomach
4	chr12:45980400-45983000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr12:45980600-45985400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:45980800-45982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:45981000-45982800	Enhancers	Fetal Intestine Large	intestine
8	chr12:45981400-45982000	Weak transcription	Colonic Mucosa	Colon
9	chr12:45981600-45982000	Enhancers	Liver	Liver
10	chr12:45981800-45982000	Enhancers	Duodenum Mucosa	Duodenum
11	chr12:45981800-45982000	Active TSS	Rectal Mucosa Donor 29	rectum

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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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