Variant report

Variant	rs654776
Chromosome Location	chr11:119346737-119346738
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:119338931..119342259-chr11:119346107..119349803,3	K562	blood:
2	chr11:119252341..119254091-chr11:119344729..119346901,2	K562	blood:
3	chr11:119344891..119347210-chr11:119349502..119351029,2	MCF-7	breast:
4	chr11:119187492..119189176-chr11:119345752..119348208,2	K562	blood:
5	chr11:119341330..119343728-chr11:119345375..119347336,2	MCF-7	breast:
6	chr11:119227301..119229062-chr11:119346080..119347995,2	K562	blood:

Variant related genes	Relation type
ENSG00000076706	Chromatin interaction
ENSG00000245248	Chromatin interaction
ENSG00000036672	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1002179	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10750144	0.92[EUR][1000 genomes]
rs10750146	0.92[EUR][1000 genomes]
rs1785899	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs531273	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs531280	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs532150	0.84[EUR][1000 genomes]
rs533053	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs534839	0.84[EUR][1000 genomes]
rs535831	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs587069	0.95[EUR][1000 genomes]
rs587521	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs593061	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs601842	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs609530	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611279	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs611719	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs613018	0.91[EUR][1000 genomes]
rs613406	0.92[EUR][1000 genomes]
rs613442	0.90[EUR][1000 genomes]
rs618827	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs620236	0.90[EUR][1000 genomes]
rs634838	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs642896	0.84[EUR][1000 genomes]
rs644613	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs647369	0.95[EUR][1000 genomes]
rs649197	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs649557	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs650969	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs658187	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs662646	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs672499	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs673841	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7932906	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	nsv832284	chr11:119237650-119408625	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1054222	chr11:119295063-119406369	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv1831688	chr11:119346590-119387267	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:119337800-119359600	Weak transcription	Right Atrium	heart
2	chr11:119345200-119346800	Enhancers	NHDF-Ad	bronchial
3	chr11:119345400-119347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:119345600-119346800	Enhancers	NHLF	lung
5	chr11:119346000-119347600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:119346400-119346800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:119346400-119347200	Enhancers	Hela-S3	cervix
8	chr11:119346600-119350200	Weak transcription	K562	blood

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