Variant report

Variant	rs7649752
Chromosome Location	chr3:55846385-55846386
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs13319885	0.95[AFR][1000 genomes]
rs13327002	0.81[AFR][1000 genomes]
rs6777324	0.89[AFR][1000 genomes]
rs6799647	0.92[AFR][1000 genomes]
rs7628151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9813675	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9813755	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9855277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9861193	0.86[AFR][1000 genomes]
rs9861210	0.86[AFR][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	nsv876814	chr3:55802749-55860526	Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv590361	chr3:55834871-55876104	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1013063	chr3:55835413-56173713	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7649752	HBD	trans	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:55842400-55846400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr3:55846000-55847600	Enhancers	Lung	lung
3	chr3:55846200-55846800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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Input of quick search could be:

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

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