Variant report

Variant	rs73117091
Chromosome Location	chr12:41590819-41590820
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55917050	0.82[ASN][1000 genomes]
rs59740712	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60615123	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60683724	0.82[ASN][1000 genomes]
rs6582304	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6582305	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73117080	0.81[AFR][1000 genomes]
rs73117097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73120909	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73122829	0.82[ASN][1000 genomes]
rs73122851	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7958391	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961153	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7961270	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7971709	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7979212	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7980336	0.82[ASN][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	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

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41585400-41599000	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:41589800-41592400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr12:41590000-41592800	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:41590600-41599000	Weak transcription	Rectal Smooth Muscle	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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