Variant report

Variant	rs59264807
Chromosome Location	chr1:193295288-193295289
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10737623	0.81[EUR][1000 genomes]
rs10754054	0.88[EUR][1000 genomes]
rs10754055	0.90[EUR][1000 genomes]
rs10801194	0.90[EUR][1000 genomes]
rs10921336	0.87[EUR][1000 genomes]
rs10921343	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12025186	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12025393	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12032958	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12034095	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12037055	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12040365	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12040832	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041558	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12041893	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12047390	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12048579	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12124282	1.00[ASN][1000 genomes]
rs1221502	0.93[EUR][1000 genomes]
rs1339961	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361405	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1616234	0.90[EUR][1000 genomes]
rs1632444	0.90[EUR][1000 genomes]
rs16835282	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16835304	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16835319	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16835320	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16835338	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1749424	0.83[EUR][1000 genomes]
rs1749429	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749430	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1749431	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1749432	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1769999	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1770000	1.00[ASN][1000 genomes]
rs1972344	0.87[EUR][1000 genomes]
rs1972345	0.93[EUR][1000 genomes]
rs2050799	0.86[AMR][1000 genomes]
rs2078083	0.82[EUR][1000 genomes]
rs2254646	0.90[EUR][1000 genomes]
rs2275506	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2477549	0.91[EUR][1000 genomes]
rs2486842	0.86[EUR][1000 genomes]
rs2486843	1.00[ASN][1000 genomes]
rs4379660	0.82[EUR][1000 genomes]
rs4428863	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4657854	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657855	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4657856	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4657858	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs475163	0.84[EUR][1000 genomes]
rs497362	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs503265	0.90[EUR][1000 genomes]
rs515964	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523402	0.87[EUR][1000 genomes]
rs524701	0.87[EUR][1000 genomes]
rs531327	0.88[ASN][1000 genomes]
rs543788	0.90[EUR][1000 genomes]
rs560900	0.93[EUR][1000 genomes]
rs569656	0.91[EUR][1000 genomes]
rs571029	0.88[EUR][1000 genomes]
rs578639	0.93[EUR][1000 genomes]
rs6428159	0.87[EUR][1000 genomes]
rs6428160	0.81[EUR][1000 genomes]
rs6428163	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6428166	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662104	0.99[ASN][1000 genomes]
rs6671476	0.90[EUR][1000 genomes]
rs6693734	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6697195	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6702762	0.99[ASN][1000 genomes]
rs693519	0.85[EUR][1000 genomes]
rs7528595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7543029	0.99[ASN][1000 genomes]
rs7550521	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs817136	0.87[EUR][1000 genomes]
rs817138	0.85[EUR][1000 genomes]
rs817140	0.85[EUR][1000 genomes]
rs817142	0.87[EUR][1000 genomes]
rs817143	0.87[EUR][1000 genomes]
rs843844	0.85[EUR][1000 genomes]
rs942680	0.83[EUR][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	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv1001174	chr1:193186758-193363372	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv997891	chr1:193271839-193566441	Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	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	chr1:193294800-193295800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:193294800-193296200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:193295200-193295800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:193295200-193297600	Weak transcription	HSMM	muscle

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