Variant report

Variant	rs11683057
Chromosome Location	chr2:20592754-20592755
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:20592640..20602218-chr2:20644635..20652468,15	MCF-7	breast:
2	chr2:20548842..20551553-chr2:20591662..20593267,2	MCF-7	breast:
3	chr2:20591374..20593036-chr2:20595761..20597892,2	K562	blood:
4	chr2:20592207..20594364-chr2:20849434..20851619,2	MCF-7	breast:
5	chr2:20584530..20587951-chr2:20592064..20594504,3	MCF-7	breast:
6	chr2:20579020..20581458-chr2:20591808..20594214,2	MCF-7	breast:
7	chr2:20550053..20554688-chr2:20590086..20593579,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118960	Chromatin interaction
ENSG00000228950	Chromatin interaction
ENSG00000232800	Chromatin interaction
ENSG00000143878	Chromatin interaction
ENSG00000055917	Chromatin interaction
ENSG00000252216	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10856798	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11096661	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11096662	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11675693	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11678068	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11692468	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11692578	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11887662	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12472111	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12472980	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12475795	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17653822	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17670898	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2098293	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35133647	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58495411	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62124611	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62124613	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62124635	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72788926	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72788927	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]

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	nsv873716	chr2:20572094-20621404	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv581165	chr2:20581058-20616990	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20581600-20601000	Weak transcription	Right Atrium	heart
2	chr2:20585800-20593800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:20590800-20595600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr2:20591000-20593600	Weak transcription	Fetal Brain Male	brain
5	chr2:20592000-20592800	Enhancers	Fetal Intestine Large	intestine
6	chr2:20592200-20593200	Bivalent Enhancer	HepG2	liver
7	chr2:20592600-20594000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:20592600-20596000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:20592600-20600200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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