Variant report

Variant	rs7985933
Chromosome Location	chr13:37764559-37764560
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11147637	0.86[AMR][1000 genomes]
rs2399397	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4054540	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs56237212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73177068	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9315471	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9594194	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9603141	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9603144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7985933	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37751800-37766000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr13:37761600-37766400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:37761600-37767000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:37761600-37767000	Weak transcription	HMEC	breast
5	chr13:37761800-37767000	Weak transcription	Muscle Satellite Cultured Cells	--

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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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