Variant report

Variant	rs12303538
Chromosome Location	chr12:41501820-41501821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11179869	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179870	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179892	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11179893	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11180346	1.00[AMR][1000 genomes]
rs11180400	1.00[AMR][1000 genomes]
rs11180403	1.00[AMR][1000 genomes]
rs12297536	1.00[AMR][1000 genomes]
rs12298867	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300315	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12304771	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305793	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12311850	1.00[AMR][1000 genomes]
rs12316685	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317058	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12317880	1.00[AMR][1000 genomes]
rs12319872	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61759481	1.00[AMR][1000 genomes]
rs9805035	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	esv3486219	chr12:41494541-41517945	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3486208	chr12:41494583-41517897	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
7	esv3486230	chr12:41494583-41517897	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
8	esv14849	chr12:41494646-41517821	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a
9	nsv1048124	chr12:41499221-41585315	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	n/a
10	nsv684	chr12:41499912-41545039	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	n/a	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	chr12:41498000-41502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:41498400-41502200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:41501400-41502400	Enhancers	Fetal Stomach	stomach
4	chr12:41501400-41503400	Enhancers	Fetal Brain Male	brain
5	chr12:41501400-41503400	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:41501400-41503600	Enhancers	Colon Smooth Muscle	Colon
7	chr12:41501600-41502400	Enhancers	Stomach Smooth Muscle	stomach
8	chr12:41501800-41502400	Enhancers	Aorta	Aorta
9	chr12:41501800-41502400	Enhancers	Ovary	ovary
10	chr12:41501800-41502600	Enhancers	Fetal Lung	lung

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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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