Variant report

Variant	rs1336755
Chromosome Location	chr13:37650485-37650486
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1199951	0.98[EUR][1000 genomes]
rs1199956	1.00[EUR][1000 genomes]
rs1199960	0.88[EUR][1000 genomes]
rs1199962	0.90[EUR][1000 genomes]
rs1199963	0.97[EUR][1000 genomes]
rs1199966	0.86[EUR][1000 genomes]
rs1199972	0.95[EUR][1000 genomes]
rs1199974	0.92[EUR][1000 genomes]
rs1199977	0.91[EUR][1000 genomes]
rs1199978	0.91[EUR][1000 genomes]
rs1199979	0.92[EUR][1000 genomes]
rs1199980	0.91[EUR][1000 genomes]
rs1199981	0.94[EUR][1000 genomes]
rs1199982	0.94[EUR][1000 genomes]
rs1199983	0.86[EUR][1000 genomes]
rs1199984	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1199986	0.98[EUR][1000 genomes]
rs1199987	0.98[EUR][1000 genomes]
rs1199988	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1199989	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12429860	0.82[EUR][1000 genomes]
rs1543738	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1764481	0.88[EUR][1000 genomes]
rs1764483	0.94[EUR][1000 genomes]
rs1764484	0.95[EUR][1000 genomes]
rs1764486	0.98[EUR][1000 genomes]
rs1764487	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1764488	0.90[EUR][1000 genomes]
rs1924418	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1924426	0.94[EUR][1000 genomes]
rs1937760	0.90[EUR][1000 genomes]
rs2093817	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2211618	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2323392	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2669893	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2785620	0.92[EUR][1000 genomes]
rs2801799	0.84[EUR][1000 genomes]
rs2997189	0.95[EUR][1000 genomes]
rs2997190	0.98[EUR][1000 genomes]
rs2997193	0.85[EUR][1000 genomes]
rs3858859	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4943442	0.80[EUR][1000 genomes]
rs6563508	0.94[EUR][1000 genomes]
rs6563509	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73175079	0.88[EUR][1000 genomes]
rs7320899	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7326688	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7339296	0.94[EUR][1000 genomes]
rs7989380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7995098	0.88[EUR][1000 genomes]
rs7997310	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8001662	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9547721	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9547725	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9576162	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	esv3377840	chr13:37631001-37656330	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1336755	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37648800-37651400	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr13:37649800-37650600	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr13:37650000-37651000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr13:37650200-37650600	Enhancers	Primary hematopoietic stem cells	blood
5	chr13:37650200-37650600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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