Variant report

Variant	rs2494090
Chromosome Location	chr6:53800626-53800627
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10498795	0.82[AMR][1000 genomes]
rs12196155	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543356	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16884427	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2223617	0.88[EUR][1000 genomes]
rs2473599	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2473601	0.97[EUR][1000 genomes]
rs2473603	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2494087	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2494089	0.97[EUR][1000 genomes]
rs2494091	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2745460	1.00[EUR][1000 genomes]
rs2820217	0.89[EUR][1000 genomes]
rs2820218	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2894816	0.86[EUR][1000 genomes]
rs4272222	0.87[EUR][1000 genomes]
rs4397225	0.82[AMR][1000 genomes]
rs6903532	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6908101	0.80[EUR][1000 genomes]
rs6925165	0.82[AMR][1000 genomes]
rs761135	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs761136	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs763814	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7752800	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7772783	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382261	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382262	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9382264	0.87[EUR][1000 genomes]
rs9464005	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9474672	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830664	chr6:53698021-53825270	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1067663	chr6:53796341-54449718	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv529158	chr6:53796341-54449718	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53772000-53803000	Weak transcription	Lung	lung
2	chr6:53787800-53807800	Weak transcription	Aorta	Aorta
3	chr6:53787800-53810800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:53794600-53801000	Weak transcription	Dnd41	blood
5	chr6:53794600-53807800	Weak transcription	Left Ventricle	heart
6	chr6:53794800-53803200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:53794800-53815600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:53795200-53803800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:53795200-53807400	Weak transcription	Fetal Stomach	stomach
10	chr6:53795600-53826200	Weak transcription	NHEK	skin
11	chr6:53795800-53803000	Weak transcription	Esophagus	oesophagus
12	chr6:53799800-53803200	Weak transcription	HSMMtube	muscle
13	chr6:53799800-53810600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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