Variant report

Variant	rs11236519
Chromosome Location	chr11:75459015-75459016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75443297..75446374-chr11:75458769..75461045,3	MCF-7	breast:
2	chr11:75456131..75461031-chr11:75477180..75480155,4	MCF-7	breast:
3	chr11:75453248..75454833-chr11:75458597..75461064,2	MCF-7	breast:
4	chr11:75455929..75459319-chr11:75467607..75470163,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062282	Chromatin interaction
ENSG00000247867	Chromatin interaction

Extended variants
information (count: 130 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10160784	0.80[ASN][1000 genomes]
rs10160802	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1017713	0.94[ASN][1000 genomes]
rs10219339	0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10793124	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793125	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793126	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10793127	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10793128	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10793129	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10793130	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10793132	0.91[ASN][1000 genomes]
rs10793133	0.91[ASN][1000 genomes]
rs10899105	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs10899109	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899110	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10899112	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10899113	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10899114	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10899115	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10899116	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10899119	0.94[ASN][1000 genomes]
rs10899120	0.94[ASN][1000 genomes]
rs10899121	0.93[ASN][1000 genomes]
rs10899122	0.93[ASN][1000 genomes]
rs10899123	0.94[ASN][1000 genomes]
rs10899124	0.93[ASN][1000 genomes]
rs10899127	0.93[ASN][1000 genomes]
rs10899128	0.93[ASN][1000 genomes]
rs10899129	0.92[ASN][1000 genomes]
rs10899131	0.91[ASN][1000 genomes]
rs10899132	0.91[ASN][1000 genomes]
rs10899133	0.91[ASN][1000 genomes]
rs10899134	0.91[ASN][1000 genomes]
rs10899135	0.91[ASN][1000 genomes]
rs10899136	0.91[ASN][1000 genomes]
rs10899137	0.91[ASN][1000 genomes]
rs10899138	0.87[ASN][1000 genomes]
rs10899139	0.87[ASN][1000 genomes]
rs10899140	0.87[ASN][1000 genomes]
rs10899141	0.87[ASN][1000 genomes]
rs10899142	0.87[ASN][1000 genomes]
rs10899144	0.84[ASN][1000 genomes]
rs10899145	0.87[ASN][1000 genomes]
rs11236507	0.84[ASN][1000 genomes]
rs11236508	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11236509	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11236511	0.86[ASN][1000 genomes]
rs11236514	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236515	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236516	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236517	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11236518	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11236520	0.91[AMR][1000 genomes]
rs11236525	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11236526	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11236527	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236528	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11236530	0.94[ASN][1000 genomes]
rs11236531	0.93[ASN][1000 genomes]
rs11236533	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11236534	0.94[ASN][1000 genomes]
rs11236537	0.90[ASN][1000 genomes]
rs11236538	0.91[ASN][1000 genomes]
rs11236539	0.91[ASN][1000 genomes]
rs11236540	0.91[ASN][1000 genomes]
rs11236542	0.91[ASN][1000 genomes]
rs11236543	0.91[ASN][1000 genomes]
rs11236545	0.91[ASN][1000 genomes]
rs11236546	0.91[ASN][1000 genomes]
rs11236549	0.87[ASN][1000 genomes]
rs11236551	0.87[ASN][1000 genomes]
rs11236552	0.87[ASN][1000 genomes]
rs11236553	0.87[ASN][1000 genomes]
rs11236554	0.87[ASN][1000 genomes]
rs11236555	0.81[ASN][1000 genomes]
rs11501918	0.93[ASN][1000 genomes]
rs11821808	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11822903	0.92[ASN][1000 genomes]
rs11823869	0.94[ASN][1000 genomes]
rs12222542	0.94[ASN][1000 genomes]
rs12222995	0.94[ASN][1000 genomes]
rs12224062	0.87[ASN][1000 genomes]
rs12278224	0.87[ASN][1000 genomes]
rs12278257	0.87[ASN][1000 genomes]
rs12285853	0.91[ASN][1000 genomes]
rs1458836	0.92[ASN][1000 genomes]
rs17134394	0.81[ASN][1000 genomes]
rs1806895	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2008476	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28802056	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36016715	0.83[ASN][1000 genomes]
rs3740849	0.92[ASN][1000 genomes]
rs3740850	0.92[ASN][1000 genomes]
rs499974	0.80[ASN][1000 genomes]
rs531117	0.80[ASN][1000 genomes]
rs559355	0.80[ASN][1000 genomes]
rs57188913	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58340821	0.94[ASN][1000 genomes]
rs58411334	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59913369	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs600518	0.80[ASN][1000 genomes]
rs600626	0.80[ASN][1000 genomes]
rs60677263	0.94[ASN][1000 genomes]
rs60692776	0.85[ASN][1000 genomes]
rs643884	0.80[ASN][1000 genomes]
rs644361	0.80[ASN][1000 genomes]
rs6592615	0.87[ASN][1000 genomes]
rs66784596	0.81[ASN][1000 genomes]
rs67233017	0.81[ASN][1000 genomes]
rs67268976	0.81[ASN][1000 genomes]
rs7101806	0.87[ASN][1000 genomes]
rs7106736	0.91[ASN][1000 genomes]
rs7108178	0.87[ASN][1000 genomes]
rs7110517	0.91[ASN][1000 genomes]
rs7118039	0.87[ASN][1000 genomes]
rs7118293	0.93[ASN][1000 genomes]
rs7122123	0.87[ASN][1000 genomes]
rs7126727	0.93[ASN][1000 genomes]
rs7128716	0.91[ASN][1000 genomes]
rs72995678	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72997616	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72997623	0.92[ASN][1000 genomes]
rs7933235	0.87[ASN][1000 genomes]
rs7944950	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7947418	0.87[ASN][1000 genomes]
rs7947512	0.94[ASN][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	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
2	nsv897924	chr11:75424546-75678647	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv897925	chr11:75456134-75556323	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11236519	DGAT2	cis	Whole Blood	GTEx
rs11236519	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75455600-75459400	Weak transcription	K562	blood
2	chr11:75458400-75459400	Weak transcription	Stomach Mucosa	stomach
3	chr11:75458400-75459400	Weak transcription	HepG2	liver
4	chr11:75458800-75459200	Weak transcription	Fetal Heart	heart

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