Variant report

Variant	rs8074054
Chromosome Location	chr17:46542587-46542588
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46542238..46544770-chr17:46708220..46710707,2	K562	blood:
2	chr17:46541136..46543467-chr17:46547633..46550633,3	K562	blood:
3	chr17:46537181..46540106-chr17:46541268..46543323,2	K562	blood:

Variant related genes	Relation type
ENSG00000210741	Chromatin interaction
ENSG00000264451	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs12150117	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs12449653	0.84[CHB][hapmap]
rs12450081	0.83[CHB][hapmap]
rs12452212	0.84[CHB][hapmap]
rs12938032	0.81[EUR][1000 genomes]
rs12939680	0.87[EUR][1000 genomes]
rs12940162	0.86[EUR][1000 genomes]
rs12940365	0.82[CHB][hapmap]
rs12940931	0.80[EUR][1000 genomes]
rs12941754	0.80[EUR][1000 genomes]
rs12941877	0.86[EUR][1000 genomes]
rs12943082	0.83[EUR][1000 genomes]
rs12944592	0.84[CHB][hapmap]
rs12945780	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12945803	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12946636	0.84[CHB][hapmap]
rs12948017	0.84[CHB][hapmap]
rs12948086	0.87[EUR][1000 genomes]
rs12948128	0.94[CEU][hapmap];0.82[CHB][hapmap];0.83[EUR][1000 genomes]
rs12950325	0.82[EUR][1000 genomes]
rs12952824	0.80[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1396870	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1533057	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1553749	0.84[CHB][hapmap]
rs1553753	0.82[CEU][hapmap];0.84[CHB][hapmap]
rs17621199	0.83[EUR][1000 genomes]
rs17621297	0.83[EUR][1000 genomes]
rs17621707	0.81[EUR][1000 genomes]
rs17623154	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs17623482	0.86[EUR][1000 genomes]
rs17624868	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17694192	0.82[EUR][1000 genomes]
rs17694895	0.86[CEU][hapmap];0.84[CHB][hapmap];0.81[EUR][1000 genomes]
rs17696503	0.86[EUR][1000 genomes]
rs17696640	0.86[EUR][1000 genomes]
rs17697950	1.00[CHB][hapmap]
rs2056458	0.84[CHB][hapmap]
rs2084881	0.82[CHB][hapmap]
rs2175158	0.84[CHB][hapmap]
rs34466582	0.84[EUR][1000 genomes]
rs34771639	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34791545	0.84[ASN][1000 genomes]
rs35003027	0.86[EUR][1000 genomes]
rs35387091	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35509644	0.86[EUR][1000 genomes]
rs35533148	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35680046	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35759756	0.86[EUR][1000 genomes]
rs35767434	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36057069	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4128439	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs4261589	0.81[ASN][1000 genomes]
rs4312351	0.84[CHB][hapmap]
rs4451990	0.84[CHB][hapmap]
rs4556829	0.84[CHB][hapmap]
rs4793846	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5000249	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs55682156	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs56146024	0.89[EUR][1000 genomes]
rs56385452	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56655886	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62067799	0.81[EUR][1000 genomes]
rs6504135	0.80[EUR][1000 genomes]
rs6504145	0.83[EUR][1000 genomes]
rs6504158	0.84[CHB][hapmap]
rs6504172	0.84[CHB][hapmap]
rs6504257	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66529852	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7206951	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.85[EUR][1000 genomes]
rs7207826	1.00[CHB][hapmap];0.89[JPT][hapmap];0.81[ASN][1000 genomes]
rs7209043	0.91[CHB][hapmap];0.81[ASN][1000 genomes]
rs7209855	0.84[CHB][hapmap]
rs7210708	0.83[CHB][hapmap]
rs7211607	0.80[EUR][1000 genomes]
rs7211712	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7212149	0.84[CHB][hapmap]
rs7212930	0.84[CHB][hapmap]
rs7213513	0.84[CHB][hapmap]
rs7214269	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7215143	0.83[EUR][1000 genomes]
rs7216971	0.84[CHB][hapmap]
rs7217025	0.84[CHB][hapmap]
rs7217120	0.84[CHB][hapmap]
rs7218217	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7218345	0.81[ASN][1000 genomes]
rs7218848	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.86[EUR][1000 genomes]
rs7219816	0.84[CHB][hapmap]
rs7220387	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7221770	0.84[CHB][hapmap]
rs7222452	0.84[CHB][hapmap]
rs7222593	0.80[EUR][1000 genomes]
rs7224686	0.86[EUR][1000 genomes]
rs7225998	0.84[CHB][hapmap]
rs8065115	0.80[EUR][1000 genomes]
rs8065385	0.83[CHB][hapmap]
rs8067857	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068128	0.84[CHB][hapmap]
rs8068397	0.84[CHB][hapmap]
rs8069900	0.81[EUR][1000 genomes]
rs8072521	0.86[EUR][1000 genomes]
rs8072770	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8073466	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8074443	0.84[CHB][hapmap]
rs8076655	1.00[CEU][hapmap];0.84[CHB][hapmap];0.89[JPT][hapmap];0.81[EUR][1000 genomes]
rs8078999	0.84[EUR][1000 genomes]
rs9303542	0.81[CHB][hapmap]
rs9891073	0.83[CHB][hapmap]
rs9891635	0.81[ASN][1000 genomes]
rs9894812	0.84[CHB][hapmap]
rs9897162	0.84[CHB][hapmap]
rs9900511	0.81[ASN][1000 genomes]
rs9905961	0.84[CHB][hapmap]
rs9906193	0.84[CHB][hapmap]
rs9907699	0.84[CHB][hapmap]
rs9909002	0.84[CHB][hapmap]
rs9909872	0.84[CHB][hapmap]
rs9910535	0.83[CHB][hapmap]
rs9916227	0.84[CHB][hapmap]

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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8074054	SKAP1	Cis_1M	lymphoblastoid	RTeQTL
rs8074054	HOXB2	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46541600-46543400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:46542200-46549800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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