Variant report

Variant	rs2997193
Chromosome Location	chr13:37665732-37665733
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1199951	0.86[EUR][1000 genomes]
rs1199956	0.85[EUR][1000 genomes]
rs1199960	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199963	0.85[EUR][1000 genomes]
rs1199972	0.83[EUR][1000 genomes]
rs1199974	0.81[EUR][1000 genomes]
rs1199977	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199978	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199979	0.86[EUR][1000 genomes]
rs1199980	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1199981	0.82[EUR][1000 genomes]
rs1199982	0.82[EUR][1000 genomes]
rs1199984	0.83[EUR][1000 genomes]
rs1199986	0.86[EUR][1000 genomes]
rs1199987	0.86[EUR][1000 genomes]
rs1199988	0.85[EUR][1000 genomes]
rs1199989	0.85[EUR][1000 genomes]
rs1336755	0.85[EUR][1000 genomes]
rs1764481	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1764483	0.82[EUR][1000 genomes]
rs1764484	0.83[EUR][1000 genomes]
rs1764486	0.86[EUR][1000 genomes]
rs1764487	0.85[EUR][1000 genomes]
rs1764488	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1924418	0.81[EUR][1000 genomes]
rs1924426	0.82[EUR][1000 genomes]
rs1937760	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093817	0.81[EUR][1000 genomes]
rs2211618	0.85[EUR][1000 genomes]
rs2669893	0.85[EUR][1000 genomes]
rs2785620	0.81[EUR][1000 genomes]
rs2997189	0.83[EUR][1000 genomes]
rs2997190	0.86[EUR][1000 genomes]
rs6563508	0.82[EUR][1000 genomes]
rs6563509	0.81[EUR][1000 genomes]
rs73175079	0.82[EUR][1000 genomes]
rs7320899	0.81[EUR][1000 genomes]
rs7326688	0.85[EUR][1000 genomes]
rs7339296	0.82[EUR][1000 genomes]
rs7989380	0.85[EUR][1000 genomes]
rs7995098	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7997310	0.81[EUR][1000 genomes]
rs8001662	0.81[EUR][1000 genomes]
rs9547721	0.82[EUR][1000 genomes]
rs9547725	0.83[EUR][1000 genomes]
rs9576162	0.85[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2997193	SUPT20H	cis	Whole Blood	GTEx
rs2997193	FAM48A	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37660400-37666600	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:37664400-37667400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr13:37665000-37668200	Active TSS	Primary B cells from cord blood	blood
4	chr13:37665200-37666600	Enhancers	Fetal Muscle Leg	muscle
5	chr13:37665400-37666200	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr13:37665400-37667400	Active TSS	Primary hematopoietic stem cells	blood
7	chr13:37665400-37678400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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