Variant report

Variant	rs13072026
Chromosome Location	chr3:42752061-42752062
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	chr3:42721179..42722806-chr3:42750603..42753565,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11079	0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs12485678	0.81[CEU][hapmap];0.97[EUR][1000 genomes]
rs12486439	0.97[EUR][1000 genomes]
rs12487055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12490743	0.93[CEU][hapmap];0.95[EUR][1000 genomes]
rs12492886	0.93[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs12493321	0.96[EUR][1000 genomes]
rs12495805	0.93[CEU][hapmap];0.81[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs13061576	0.80[CEU][hapmap];0.81[GIH][hapmap]
rs13085272	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes]
rs13090185	0.81[CEU][hapmap];0.81[GIH][hapmap]
rs13095730	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[TSI][hapmap];0.95[EUR][1000 genomes]
rs2240860	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290973	0.95[JPT][hapmap]
rs2372114	0.90[EUR][1000 genomes]
rs339681	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs339694	0.94[JPT][hapmap];0.85[ASN][1000 genomes]
rs339697	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs34025253	0.95[EUR][1000 genomes]
rs34188562	0.97[EUR][1000 genomes]
rs34378441	0.86[ASN][1000 genomes]
rs34482203	0.93[EUR][1000 genomes]
rs34510173	0.95[EUR][1000 genomes]
rs35389123	0.97[EUR][1000 genomes]
rs35659560	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35697625	0.96[EUR][1000 genomes]
rs36061398	0.96[EUR][1000 genomes]
rs3846062	0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs3912102	0.93[CEU][hapmap];0.97[EUR][1000 genomes]
rs3912103	0.95[EUR][1000 genomes]
rs3916333	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4488806	0.81[CEU][hapmap]
rs55799024	0.97[EUR][1000 genomes]
rs56232384	0.97[EUR][1000 genomes]
rs56978598	0.97[EUR][1000 genomes]
rs62246602	0.97[EUR][1000 genomes]
rs62246607	0.95[EUR][1000 genomes]
rs62250122	0.97[EUR][1000 genomes]
rs6765740	0.81[CEU][hapmap]
rs6779396	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617368	0.93[CEU][hapmap];0.80[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013578	chr3:42747858-42817321	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv999713	chr3:42749022-42817321	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13072026	CCDC13-AS1	cis	Thyroid	GTEx
rs13072026	CCDC13	cis	Thyroid	GTEx

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42745600-42753000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:42745800-42752800	Weak transcription	Brain Angular Gyrus	brain
3	chr3:42746200-42753000	Weak transcription	Brain Anterior Caudate	brain
4	chr3:42746600-42752800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:42746800-42752800	Weak transcription	Brain Substantia Nigra	brain
6	chr3:42747400-42752800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:42747800-42760200	Weak transcription	Right Atrium	heart
8	chr3:42751800-42753000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:42751800-42753800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr3:42752000-42753400	Enhancers	Skeletal Muscle Female	skeletal muscle

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