Variant report

Variant	rs13413613
Chromosome Location	chr2:145531555-145531556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10181009	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs10200647	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10203655	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10205995	0.87[EUR][1000 genomes]
rs10432351	0.95[ASN][1000 genomes]
rs10496966	0.87[ASN][1000 genomes]
rs10928225	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10928226	0.89[ASN][1000 genomes]
rs10928227	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs11674690	0.94[ASN][1000 genomes]
rs11679253	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11883829	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap]
rs11900456	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11902294	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs12104619	0.82[ASN][1000 genomes]
rs12471698	0.88[ASN][1000 genomes]
rs12478142	0.88[ASN][1000 genomes]
rs12611966	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12623452	0.95[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12991932	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997597	0.84[ASN][1000 genomes]
rs13003467	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13008442	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13015001	0.92[CHB][hapmap];0.82[CHD][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs13016064	0.87[ASN][1000 genomes]
rs13032840	0.90[ASN][1000 genomes]
rs1351734	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1365902	0.85[ASN][1000 genomes]
rs1365905	0.87[ASN][1000 genomes]
rs1384779	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1384783	0.88[ASN][1000 genomes]
rs1427509	0.92[CHB][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs1483491	1.00[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs1483499	0.98[ASN][1000 genomes]
rs1559961	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1559962	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1564697	0.92[CHB][hapmap];0.91[CHD][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs16823955	0.94[LWK][hapmap]
rs1896453	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1896454	0.84[ASN][1000 genomes]
rs1905347	0.95[ASN][1000 genomes]
rs1994155	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2086748	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2195114	0.87[ASN][1000 genomes]
rs2195115	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2254435	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2381651	0.92[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs35099259	0.89[CEU][hapmap];0.92[CHB][hapmap];0.82[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3856364	0.85[ASN][1000 genomes]
rs4458150	0.83[ASN][1000 genomes]
rs4471836	0.88[ASN][1000 genomes]
rs4662231	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4662232	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs4662393	0.91[ASN][1000 genomes]
rs61440197	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6707047	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6728198	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6745079	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72991962	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7575857	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7579453	0.87[ASN][1000 genomes]
rs7580571	0.88[ASN][1000 genomes]
rs900554	0.92[CHB][hapmap];0.87[CHD][hapmap];0.92[JPT][hapmap];0.87[ASN][1000 genomes]
rs958500	0.88[ASN][1000 genomes]
rs958501	0.88[ASN][1000 genomes]
rs980772	0.92[CHB][hapmap];0.92[JPT][hapmap];0.84[ASN][1000 genomes]
rs990847	0.92[CHB][hapmap];0.92[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	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
rs13413613	ACVR2A	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145525600-145535400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:145527800-145532000	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:145528800-145532800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:145529400-145533000	Weak transcription	Brain Anterior Caudate	brain
5	chr2:145530200-145531600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:145531400-145531600	Enhancers	Fetal Brain Male	brain

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