Variant report

Variant	rs188513
Chromosome Location	chr4:124305596-124305597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10518414	0.94[ASN][1000 genomes]
rs11098709	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13145927	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13150612	0.89[ASN][1000 genomes]
rs28477228	0.89[ASN][1000 genomes]
rs28514996	0.89[ASN][1000 genomes]
rs300555	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs300572	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs300574	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4833277	0.89[ASN][1000 genomes]
rs4833278	0.89[ASN][1000 genomes]
rs9992811	0.89[ASN][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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr4:124288800-124307600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:124299000-124310800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:124300600-124307200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:124301200-124307200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:124302600-124310800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:124303200-124310000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:124303400-124307200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:124303600-124306200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:124303600-124310800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:124304400-124305600	Enhancers	Thymus	Thymus
11	chr4:124305400-124307000	Weak transcription	Fetal Thymus	thymus
12	chr4:124305400-124307600	Weak transcription	Fetal Heart	heart

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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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