Variant report

Variant	rs1199980
Chromosome Location	chr13:37660120-37660121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1199951	0.90[EUR][1000 genomes]
rs1199956	0.91[EUR][1000 genomes]
rs1199960	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199962	0.82[EUR][1000 genomes]
rs1199963	0.94[TSI][hapmap];0.88[EUR][1000 genomes]
rs1199972	0.87[EUR][1000 genomes]
rs1199974	0.84[EUR][1000 genomes]
rs1199977	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199978	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199979	0.90[EUR][1000 genomes]
rs1199981	0.86[EUR][1000 genomes]
rs1199982	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1199984	0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs1199986	0.90[EUR][1000 genomes]
rs1199987	0.90[EUR][1000 genomes]
rs1199988	0.91[EUR][1000 genomes]
rs1199989	0.91[EUR][1000 genomes]
rs1336755	0.91[EUR][1000 genomes]
rs1543738	0.87[TSI][hapmap];0.86[EUR][1000 genomes]
rs17054795	0.81[LWK][hapmap]
rs1764481	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764483	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs1764484	0.87[EUR][1000 genomes]
rs1764486	0.90[EUR][1000 genomes]
rs1764487	0.91[EUR][1000 genomes]
rs1764488	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924418	0.87[EUR][1000 genomes]
rs1924422	0.81[TSI][hapmap]
rs1924426	0.86[EUR][1000 genomes]
rs1937760	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093817	0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2147169	0.87[TSI][hapmap]
rs2211618	0.91[EUR][1000 genomes]
rs2323165	0.87[TSI][hapmap]
rs2323392	0.82[EUR][1000 genomes]
rs2669893	0.91[EUR][1000 genomes]
rs2785620	0.87[TSI][hapmap];0.84[EUR][1000 genomes]
rs2997189	0.87[EUR][1000 genomes]
rs2997190	0.90[EUR][1000 genomes]
rs2997193	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3858859	0.86[EUR][1000 genomes]
rs4291799	0.87[TSI][hapmap]
rs4941854	0.87[TSI][hapmap]
rs4941856	0.87[TSI][hapmap]
rs4943441	0.93[TSI][hapmap]
rs6563507	0.87[TSI][hapmap]
rs6563508	0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs6563509	0.87[EUR][1000 genomes]
rs73175079	0.80[EUR][1000 genomes]
rs7317750	0.87[TSI][hapmap]
rs7320899	0.87[EUR][1000 genomes]
rs7321129	0.81[TSI][hapmap]
rs7326688	0.91[EUR][1000 genomes]
rs7338929	0.87[TSI][hapmap]
rs7339296	0.86[EUR][1000 genomes]
rs7983986	0.87[TSI][hapmap]
rs7989205	0.87[TSI][hapmap]
rs7989380	0.91[EUR][1000 genomes]
rs7995098	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997310	0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs8001662	0.87[EUR][1000 genomes]
rs9532001	0.81[TSI][hapmap]
rs9532004	0.81[TSI][hapmap]
rs9532005	0.87[TSI][hapmap]
rs9547707	0.81[TSI][hapmap]
rs9547715	0.87[TSI][hapmap]
rs9547718	0.87[TSI][hapmap]
rs9547721	0.88[EUR][1000 genomes]
rs9547725	0.90[EUR][1000 genomes]
rs9576162	0.91[EUR][1000 genomes]
rs9603121	0.81[TSI][hapmap]

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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1199980	FAM48A	Cis_1M	lymphoblastoid	RTeQTL
rs1199980	SUPT20H	cis	Whole Blood	GTEx

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37659000-37660600	Enhancers	Fetal Muscle Leg	muscle
2	chr13:37659400-37660600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr13:37659400-37660600	Enhancers	Adipose Nuclei	Adipose
4	chr13:37659600-37660400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr13:37659600-37661200	Enhancers	Fetal Lung	lung
6	chr13:37659800-37663800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr13:37660000-37660400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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