Variant report

Variant	rs376577
Chromosome Location	chr20:14479074-14479075
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs13036305	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13036870	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13037403	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13037982	1.00[CEU][hapmap]
rs13039094	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13039304	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13040047	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13042875	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13043292	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13043921	0.83[CEU][hapmap]
rs17227062	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17812701	1.00[CEU][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17812707	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17812713	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17812749	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1815494	0.89[YRI][hapmap]
rs1998103	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1998104	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2327859	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2423789	0.94[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423795	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423796	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423797	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423798	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423799	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2423801	0.94[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34202312	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366310	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35658161	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36023726	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs365225	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs365792	1.00[YRI][hapmap]
rs366944	0.90[YRI][hapmap]
rs373874	0.93[CEU][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs376972	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs377610	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs384498	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs391092	0.84[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs398372	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs405620	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs405993	0.81[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs406307	0.81[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs406441	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs407908	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs408176	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs412345	0.94[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs416436	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs420299	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs420629	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs429495	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs429549	0.84[YRI][hapmap]
rs429643	0.89[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs430452	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs436322	0.88[CEU][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs441540	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs441647	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs453013	0.84[YRI][hapmap]
rs475471	0.95[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4814304	0.91[YRI][hapmap]
rs4814307	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6042732	0.91[YRI][hapmap]
rs6079442	0.91[YRI][hapmap]
rs6079476	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6110316	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62202873	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs915076	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833926	chr20:14410153-14572336	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv585442	chr20:14420556-14485947	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1059770	chr20:14432394-14549781	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv544187	chr20:14432394-14549781	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3525012	chr20:14475602-14480050	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3525011	chr20:14476552-14479950	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv3525010	chr20:14476991-14479385	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
11	nsv1064008	chr20:14477895-14540691	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14462600-14488400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14477200-14479200	Enhancers	Hela-S3	cervix
3	chr20:14478000-14479200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:14478200-14479400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:14478400-14479600	Enhancers	Brain Hippocampus Middle	brain
6	chr20:14478400-14479600	Enhancers	HUVEC	blood vessel
7	chr20:14478600-14479600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr20:14478600-14479800	Enhancers	Fetal Kidney	kidney
9	chr20:14478600-14480000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr20:14479000-14479400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr20:14479000-14479800	Enhancers	Fetal Lung	lung

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