Variant report

Variant	rs10793129
Chromosome Location	chr11:75459865-75459866
allele	A/G/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	chr11:75439128..75441333-chr11:75459340..75460882,2	K562	blood:
3	chr11:75456131..75461031-chr11:75477180..75480155,4	MCF-7	breast:
4	chr11:75459388..75460971-chr11:75496714..75498244,2	MCF-7	breast:
5	chr11:75453248..75454833-chr11:75458597..75461064,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000062282	Chromatin interaction
ENSG00000247867	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10160802	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10219339	0.84[AMR][1000 genomes]
rs10793124	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10793125	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10793126	0.87[EUR][1000 genomes]
rs10793127	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10793128	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10793130	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10899109	0.88[EUR][1000 genomes]
rs10899110	0.88[EUR][1000 genomes]
rs10899112	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10899113	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10899114	0.87[EUR][1000 genomes]
rs10899115	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10899116	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236514	0.88[EUR][1000 genomes]
rs11236515	0.88[EUR][1000 genomes]
rs11236516	0.88[EUR][1000 genomes]
rs11236517	0.88[EUR][1000 genomes]
rs11236518	0.88[EUR][1000 genomes]
rs11236519	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236520	0.84[AMR][1000 genomes]
rs11236525	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11236526	0.87[EUR][1000 genomes]
rs11236527	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11236528	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11821808	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1806895	0.87[EUR][1000 genomes]
rs2008476	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28802056	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs57188913	0.87[EUR][1000 genomes]
rs58411334	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59913369	0.87[EUR][1000 genomes]
rs72997616	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7944950	0.82[AMR][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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10793129	RP11-535A19.1	cis	Whole Blood	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75459600-75460200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr11:75459600-75460200	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:75459600-75470200	Weak transcription	Stomach Mucosa	stomach

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