Variant report

Variant	rs58244957
Chromosome Location	chr11:62752587-62752588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:62750221..62752970-chr11:62761935..62764857,2	MCF-7	breast:
2	chr11:62687026..62689620-chr11:62751524..62753744,2	K562	blood:

Variant related genes	Relation type
ENSG00000149452	Chromatin interaction
ENSG00000168539	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11568621	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11568628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11568629	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4077137	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56052738	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56057734	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56192530	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56238281	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56306952	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56406487	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs57350702	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67381592	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67406655	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72931384	0.83[ASN][1000 genomes]
rs72931390	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72931399	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72933422	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72933451	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72933455	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs736342	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs947790	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[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	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
2	nsv1041770	chr11:62610353-62871767	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	263 gene(s)	inside rSNPs	diseases
3	esv34011	chr11:62652779-62993702	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62743200-62753600	Weak transcription	Right Atrium	heart
2	chr11:62751200-62753000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:62751200-62753200	Enhancers	Brain Hippocampus Middle	brain
4	chr11:62751400-62753200	Enhancers	Brain Anterior Caudate	brain
5	chr11:62751400-62753800	Enhancers	Brain Cingulate Gyrus	brain
6	chr11:62751400-62753800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:62751400-62754000	Enhancers	Brain Angular Gyrus	brain
8	chr11:62751600-62753200	Enhancers	Brain Germinal Matrix	brain
9	chr11:62751800-62752600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:62752000-62753200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr11:62752000-62753600	Enhancers	Brain Substantia Nigra	brain
12	chr11:62752000-62756000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:62752200-62752600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:62752400-62763600	Weak transcription	Spleen	Spleen

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