Variant report

Variant	rs56283216
Chromosome Location	chr1:159443603-159443604
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	GATA2	chr1:159442264-159443611	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr1:159442321-159443704	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:159442321-159443624	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr1:159442403-159443760	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr1:159442967-159443635	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000228560	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11265215	0.89[ASN][1000 genomes]
rs12564019	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12565926	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12566875	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12760402	0.89[ASN][1000 genomes]
rs13375812	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34940390	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35089781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4128726	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4147228	0.91[ASN][1000 genomes]
rs4584388	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4587563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55638552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55685457	1.00[AFR][1000 genomes]
rs55700503	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55836400	1.00[EUR][1000 genomes]
rs55893685	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55985148	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56178928	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56244009	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56276965	0.88[EUR][1000 genomes]
rs56376195	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56380934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56381216	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57256834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57914415	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58463446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60751305	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs60909440	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6689142	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73013349	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532282	0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432975	chr1:159431927-159461927	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159438200-159444600	Enhancers	HUVEC	blood vessel
2	chr1:159439600-159445400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr1:159440400-159456600	Weak transcription	Liver	Liver
4	chr1:159443400-159444400	Weak transcription	HMEC	breast

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