Variant report

Variant	rs12046343
Chromosome Location	chr1:58603143-58603144
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10493243	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12021839	1.00[EUR][1000 genomes]
rs12022240	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12025951	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12036406	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12037550	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12037749	0.83[ASN][1000 genomes]
rs12040992	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042296	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042368	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12045007	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12046993	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12049240	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17117004	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17117046	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2039733	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2095817	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4912182	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4912308	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59962900	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60227124	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60974573	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs637081	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015057	chr1:57976993-58793962	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv530017	chr1:58002290-58669736	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv431379	chr1:58224212-58802608	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1008968	chr1:58582159-58982440	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv534974	chr1:58582159-58982440	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 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	chr1:58599400-58607200	Weak transcription	Fetal Brain Female	brain
2	chr1:58600600-58604200	Enhancers	Thymus	Thymus
3	chr1:58602200-58603600	Enhancers	Fetal Thymus	thymus
4	chr1:58602200-58610000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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