Variant report

Variant	rs2203494
Chromosome Location	chr12:20875386-20875387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11045401	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11045402	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs12818243	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs2056136	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2417862	0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs34049586	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34288910	1.00[ASN][1000 genomes]
rs35653399	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[ASN][1000 genomes]
rs61921515	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71581956	1.00[ASN][1000 genomes]
rs7977890	0.82[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	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv557704	chr12:20842041-20893980	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3391629	chr12:20866256-20908722	Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20860000-20881200	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:20874800-20875800	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:20875000-20875400	Enhancers	Hela-S3	cervix
4	chr12:20875000-20875400	Enhancers	HUVEC	blood vessel
5	chr12:20875000-20875600	Enhancers	Dnd41	blood

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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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