Variant report

Variant	rs12318942
Chromosome Location	chr12:11711690-11711691
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10491980	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11054355	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12296206	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12297330	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12304175	1.00[JPT][hapmap]
rs12306671	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12312814	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1641623	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16934780	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16934824	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16935059	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16935084	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1795551	1.00[JPT][hapmap]
rs56717408	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7316082	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73286612	0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7972959	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7975230	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7975331	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[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	esv2758294	chr12:10969620-11714921	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv2759879	chr12:10969620-11714921	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
3	nsv428272	chr12:11069845-11714921	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv469112	chr12:11575570-11711690	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv557573	chr12:11575570-11711690	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11709600-11712200	Weak transcription	GM12878-XiMat	blood
2	chr12:11709600-11712400	Weak transcription	Primary T cells from cord blood	blood
3	chr12:11709800-11714200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:11710000-11714200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:11710000-11714600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:11710200-11713800	Weak transcription	Aorta	Aorta

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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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