Variant report

Variant	rs9567933
Chromosome Location	chr13:48420218-48420219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1408617	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17085	0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap]
rs1819244	0.83[AMR][1000 genomes]
rs7336029	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7336197	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7993336	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9526401	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9526402	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9526404	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9562770	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][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	esv3510679	chr13:48236624-48498185	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3510680	chr13:48236624-48498185	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv561589	chr13:48251736-48420218	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2383197	chr13:48419735-48420255	Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48419000-48420400	Enhancers	HMEC	breast
2	chr13:48419000-48421400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:48420000-48421800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:48420200-48420600	Enhancers	HepG2	liver
5	chr13:48420200-48422000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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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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