Variant report

Variant	rs56022217
Chromosome Location	chr1:160118612-160118613
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12407381	0.89[EUR][1000 genomes]
rs12408200	0.87[EUR][1000 genomes]
rs12410866	0.89[EUR][1000 genomes]
rs17846717	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17846718	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2070701	0.88[ASN][1000 genomes]
rs41288127	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55843060	0.95[EUR][1000 genomes]
rs55845795	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs55884181	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56003400	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs911229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911230	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3327316	chr1:159985477-160151281	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	esv1820784	chr1:160029416-160159395	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv534165	chr1:160029416-160187302	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv872490	chr1:160083012-160121488	Enhancers Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	esv3453724	chr1:160098374-160136495	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3453725	chr1:160098456-160136351	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:160088000-160146200	Weak transcription	Spleen	Spleen
2	chr1:160106800-160121600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:160107600-160121400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:160112200-160119000	Weak transcription	HSMMtube	muscle
5	chr1:160112200-160119800	Weak transcription	Aorta	Aorta
6	chr1:160115000-160118800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:160117200-160119600	Enhancers	HepG2	liver
8	chr1:160117600-160118800	Enhancers	Left Ventricle	heart
9	chr1:160118400-160119200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:160118400-160120200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:160118600-160119200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:160118600-160119800	Enhancers	Monocytes-CD14+_RO01746	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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