Variant report

Variant	rs688280
Chromosome Location	chr13:37503001-37503002
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1199963	0.83[GIH][hapmap]
rs1199982	0.83[GIH][hapmap]
rs12865199	0.81[AMR][1000 genomes]
rs1543738	0.83[GIH][hapmap]
rs1764483	0.83[GIH][hapmap]
rs1924419	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1924420	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1924422	0.81[CEU][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1937761	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2147169	0.81[CEU][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs2181787	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2186157	0.82[EUR][1000 genomes]
rs2323165	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs2769541	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2769543	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs2785620	0.83[GIH][hapmap]
rs4291799	0.81[CEU][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs483304	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4941854	0.81[CEU][hapmap];0.83[GIH][hapmap];0.81[EUR][1000 genomes]
rs4941855	0.81[EUR][1000 genomes]
rs4941856	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs568992	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs587505	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs647421	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6563507	0.81[CEU][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs6563508	0.83[GIH][hapmap]
rs675108	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7317750	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7321129	0.81[CEU][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7329314	0.82[EUR][1000 genomes]
rs7334233	0.83[EUR][1000 genomes]
rs7338929	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs7982674	0.83[EUR][1000 genomes]
rs7983986	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7989205	0.81[CEU][hapmap];0.81[EUR][1000 genomes]
rs7991057	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs7991181	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9315458	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9315459	0.83[EUR][1000 genomes]
rs9531998	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9532001	0.81[CEU][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9532002	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9532004	0.81[CEU][hapmap];0.83[GIH][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9532005	0.81[CEU][hapmap];0.83[GIH][hapmap];0.83[EUR][1000 genomes]
rs9547703	0.91[CEU][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap]
rs9547704	0.91[CEU][hapmap];1.00[JPT][hapmap]
rs9547707	0.81[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9547712	0.82[EUR][1000 genomes]
rs9547715	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs9547717	0.91[CEU][hapmap];0.83[GIH][hapmap];0.88[TSI][hapmap];0.87[EUR][1000 genomes]
rs9547718	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs9576153	0.83[EUR][1000 genomes]
rs9576154	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs9594181	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9603121	0.81[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.93[AMR][1000 genomes];0.82[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	nsv522336	chr13:37305641-37584838	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs688280	FAM48A	Cis_1M	lymphoblastoid	RTeQTL
rs688280	SUPT20H	cis	Whole Blood	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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

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