Variant report

Variant	rs4706523
Chromosome Location	chr6:73735310-73735311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11963228	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4397191	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6453617	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6918396	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6919016	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830691	chr6:73530978-73743648	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:73710000-73740000	Weak transcription	HMEC	breast
2	chr6:73717800-73737800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr6:73718600-73739400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:73722200-73737000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr6:73722200-73751800	Weak transcription	Primary B cells from cord blood	blood
6	chr6:73731200-73737400	Weak transcription	Primary T cells from cord blood	blood
7	chr6:73734600-73740200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:73734600-73742200	Weak transcription	HSMMtube	muscle
9	chr6:73734800-73739600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr6:73734800-73742200	Weak transcription	Osteobl	bone
11	chr6:73735000-73739800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr6:73735000-73740200	Weak transcription	HSMM	muscle

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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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