Variant report

Variant	rs6430071
Chromosome Location	chr2:145642709-145642710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:145642528-145642723	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000268580	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs13009019	0.93[ASN][1000 genomes]
rs17407414	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17407477	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1968526	1.00[ASN][1000 genomes]
rs1968527	1.00[ASN][1000 genomes]
rs2118775	0.85[GIH][hapmap]
rs2579022	1.00[ASN][1000 genomes]
rs2579023	1.00[ASN][1000 genomes]
rs2918596	1.00[ASN][1000 genomes]
rs34528635	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35684585	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169571	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6729614	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706626	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs706627	1.00[ASN][1000 genomes]
rs786218	1.00[ASN][1000 genomes]
rs786223	1.00[ASN][1000 genomes]
rs786224	1.00[ASN][1000 genomes]
rs786226	1.00[ASN][1000 genomes]
rs786227	1.00[ASN][1000 genomes]
rs786228	0.82[ASN][1000 genomes]
rs786229	1.00[ASN][1000 genomes]
rs786248	0.87[ASN][1000 genomes]
rs786252	1.00[ASN][1000 genomes]
rs786253	1.00[ASN][1000 genomes]
rs786256	1.00[ASN][1000 genomes]
rs786263	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786264	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786266	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs786267	0.85[ASN][1000 genomes]
rs786268	1.00[ASN][1000 genomes]
rs786272	1.00[ASN][1000 genomes]
rs786273	1.00[ASN][1000 genomes]
rs786274	1.00[ASN][1000 genomes]
rs786279	0.82[EUR][1000 genomes]
rs786280	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs796797	1.00[ASN][1000 genomes]
rs812530	1.00[ASN][1000 genomes]
rs9646680	1.00[ASN][1000 genomes]
rs974755	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
rs6430071	ACVR2A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145635800-145644400	Weak transcription	Psoas Muscle	Psoas

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