Variant report

Variant	rs1548480
Chromosome Location	chr7:26787343-26787344
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1024454	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10255249	0.83[AFR][1000 genomes]
rs10807834	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs11764558	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11770043	0.83[AFR][1000 genomes]
rs11770344	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700754	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12700756	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12700757	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12700759	0.82[AFR][1000 genomes]
rs12700762	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1548022	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2023821	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs212845	0.93[EUR][1000 genomes]
rs212851	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs212854	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299101	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2893256	0.81[ASN][1000 genomes]
rs3801872	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4722628	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4722632	0.93[ASN][1000 genomes]
rs4722637	0.84[ASN][1000 genomes]
rs5012512	0.82[AFR][1000 genomes]
rs6461964	0.83[AFR][1000 genomes]
rs6461971	0.82[AFR][1000 genomes]
rs687254	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs687603	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7784257	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7795313	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7802771	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7810179	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs934410	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018125	chr7:26745074-26789814	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1548480	SKAP2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26750400-26812000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr7:26776200-26800000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:26779600-26810600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:26779800-26798600	Weak transcription	Primary B cells from cord blood	blood
5	chr7:26779800-26809000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr7:26780800-26797400	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:26781000-26809200	Weak transcription	Monocytes-CD14+_RO01746	blood

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