Variant report

Variant	rs73013315
Chromosome Location	chr1:159440094-159440095
allele	C/T
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	PBX3	chr1:159439748-159440177	SK-N-SH	brain:	n/a	n/a
2	MEF2A	chr1:159439668-159440107	SK-N-SH	brain:	n/a	chr1:159439758-159439766
3	FOS	chr1:159439725-159440338	HUVEC	blood vessel:	n/a	chr1:159439757-159439766
4	POLR2A	chr1:159439650-159440230	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000228560	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs13375571	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375614	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13375812	0.86[AFR][1000 genomes]
rs13376196	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4328070	0.92[AFR][1000 genomes]
rs4584388	0.86[AFR][1000 genomes]
rs4636457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55836400	0.86[AFR][1000 genomes]
rs56376195	0.86[AFR][1000 genomes]
rs57115562	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59594015	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6696020	0.84[AFR][1000 genomes]
rs73013306	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013308	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013312	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013313	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013316	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013323	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013329	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013337	0.92[AFR][1000 genomes]
rs73013340	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013346	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013352	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013355	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013357	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013360	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73013361	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017434	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017437	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017439	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017469	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73017477	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027947	1.00[AMR][1000 genomes]
rs73027965	1.00[AMR][1000 genomes]
rs73029830	1.00[AMR][1000 genomes]
rs73031609	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031611	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031623	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031628	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031644	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031647	0.98[AFR][1000 genomes];1.00[AMR][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	esv3334702	chr1:159415928-159442349	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:159438200-159440200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:159438200-159444600	Enhancers	HUVEC	blood vessel
3	chr1:159439000-159440400	Enhancers	Liver	Liver
4	chr1:159439400-159440200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:159439600-159440200	Enhancers	Right Atrium	heart
6	chr1:159439600-159441200	Weak transcription	Osteobl	bone
7	chr1:159439600-159445400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr1:159440000-159440400	Enhancers	Duodenum Mucosa	Duodenum
9	chr1:159440000-159440400	Enhancers	Left Ventricle	heart

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