Variant report

Variant	rs12461373
Chromosome Location	chr19:42199496-42199497
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10415940	0.80[EUR][1000 genomes]
rs12459934	0.94[EUR][1000 genomes]
rs12460733	0.90[EUR][1000 genomes]
rs12460742	0.91[EUR][1000 genomes]
rs12979109	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3928915	0.94[EUR][1000 genomes]
rs3928918	0.93[EUR][1000 genomes]
rs3928919	0.93[EUR][1000 genomes]
rs55973747	0.88[EUR][1000 genomes]
rs7250222	0.93[EUR][1000 genomes]
rs7256221	0.82[EUR][1000 genomes]
rs7256597	0.92[EUR][1000 genomes]
rs7257798	0.80[EUR][1000 genomes]
rs7257962	0.92[EUR][1000 genomes]
rs7258524	0.85[EUR][1000 genomes]
rs7259215	0.80[EUR][1000 genomes]
rs73045046	0.91[EUR][1000 genomes]
rs889365	0.80[EUR][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	esv3319146	chr19:42082639-42212929	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv3319147	chr19:42082742-42212770	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv3422975	chr19:42106166-42212774	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
5	nsv1061309	chr19:42187716-42228445	Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr19:42192400-42200600	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr19:42195600-42199600	Weak transcription	Pancreas	Pancrea
3	chr19:42198800-42199600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr19:42199400-42203400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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