Variant report

Variant	rs4708013
Chromosome Location	chr6:73749270-73749271
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
KCNQ5	TF binding region
ENSG00000256980	Chromatin interaction
ENSG00000203907	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000235174	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4349773	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4706526	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4708011	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9341398	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9350480	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9350482	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9351965	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73722200-73751800	Weak transcription	Primary B cells from cord blood	blood
2	chr6:73738200-73751600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr6:73743000-73772000	Weak transcription	HSMM	muscle
4	chr6:73746400-73759600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:73748200-73749400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:73749000-73765200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:73749200-73753000	Weak transcription	Primary T cells from cord blood	blood

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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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