Variant report

Variant	rs13426054
Chromosome Location	chr2:111477966-111477967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111474993..111476670-chr2:111477962..111480362,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10175974	1.00[CEU][hapmap]
rs10203271	1.00[CEU][hapmap]
rs11900983	1.00[CEU][hapmap]
rs11903773	1.00[CEU][hapmap]
rs12474907	1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs13386878	1.00[CEU][hapmap]
rs13388313	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs13398617	1.00[CEU][hapmap]
rs13410685	1.00[CEU][hapmap]
rs13415981	1.00[CEU][hapmap]
rs13421709	1.00[EUR][1000 genomes]
rs13430683	1.00[CEU][hapmap]
rs17041539	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17041553	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17041554	1.00[CHB][hapmap]
rs17041555	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17464100	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs34026418	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs3817265	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4255970	1.00[CEU][hapmap]
rs56146538	0.83[ASN][1000 genomes]
rs56260092	0.83[ASN][1000 genomes]
rs57862073	0.83[ASN][1000 genomes]
rs66616139	0.84[ASN][1000 genomes]
rs6728168	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6752335	0.88[EUR][1000 genomes]
rs68130860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72828843	1.00[ASN][1000 genomes]
rs72828844	1.00[ASN][1000 genomes]
rs72828845	1.00[ASN][1000 genomes]
rs72828846	0.87[ASN][1000 genomes]
rs72828847	1.00[EUR][1000 genomes]
rs72828848	1.00[EUR][1000 genomes]
rs72828849	0.83[ASN][1000 genomes]
rs72828850	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72828851	0.83[ASN][1000 genomes]
rs72828852	0.83[ASN][1000 genomes]
rs7419932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7581640	1.00[CEU][hapmap]
rs7592058	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs7609252	1.00[CEU][hapmap]
rs977406	1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv1008581	chr2:110826262-111487021	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13426054	AC013268.5	cis	Artery Aorta	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111474600-111478000	Enhancers	Ovary	ovary
2	chr2:111475000-111478400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:111475200-111479600	Weak transcription	Aorta	Aorta
4	chr2:111475800-111481000	Weak transcription	GM12878-XiMat	blood
5	chr2:111476400-111478400	Enhancers	Placenta	Placenta
6	chr2:111477200-111478400	Enhancers	Liver	Liver
7	chr2:111477400-111478400	Enhancers	Left Ventricle	heart
8	chr2:111477600-111478000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:111477800-111478000	Enhancers	Right Ventricle	heart
10	chr2:111477800-111478400	Enhancers	Pancreas	Pancrea
11	chr2:111477800-111478400	Enhancers	Right Atrium	heart

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