Variant report

Variant	rs2113071
Chromosome Location	chr5:59504470-59504471
allele	A/G
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:24)

rs_ID	r²[population]
rs10939838	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10939839	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11743928	0.87[EUR][1000 genomes]
rs12186826	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12187669	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12188020	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13157125	0.82[EUR][1000 genomes]
rs17385322	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17450732	0.86[EUR][1000 genomes]
rs35381370	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35415111	0.87[EUR][1000 genomes]
rs4270654	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4513649	0.82[EUR][1000 genomes]
rs4577666	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6868695	0.82[EUR][1000 genomes]
rs6868850	0.82[EUR][1000 genomes]
rs6889641	0.82[EUR][1000 genomes]
rs70975372	0.89[AFR][1000 genomes]
rs71627994	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71627995	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71627996	0.96[EUR][1000 genomes]
rs71627997	0.80[EUR][1000 genomes]
rs71627998	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7709269	0.82[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	nsv1018015	chr5:58889470-59532667	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv537766	chr5:58889470-59532667	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv1025856	chr5:59188419-59928852	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv830316	chr5:59480269-59689829	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59499000-59504600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:59500400-59505200	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:59501000-59505800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:59503000-59505600	Enhancers	Fetal Brain Male	brain
5	chr5:59503200-59504600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr5:59503200-59506600	Weak transcription	HepG2	liver
7	chr5:59503800-59506000	Enhancers	HUVEC	blood vessel
8	chr5:59504000-59505000	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr5:59504000-59506600	Weak transcription	Primary B cells from cord blood	blood
10	chr5:59504200-59505200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:59504200-59505600	Enhancers	Adipose Nuclei	Adipose
12	chr5:59504400-59504600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:59504400-59504800	Enhancers	Aorta	Aorta
14	chr5:59504400-59504800	Enhancers	Left Ventricle	heart
15	chr5:59504400-59504800	Enhancers	Right Atrium	heart
16	chr5:59504400-59505600	Enhancers	Fetal Brain Female	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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