Variant report

Variant	rs55818846
Chromosome Location	chr12:56780658-56780659
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56775481..56777623-chr12:56779776..56782928,3	K562	blood:
2	chr12:56726567..56729110-chr12:56778914..56781855,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259099	Chromatin interaction
ENSG00000135473	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10876883	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11171818	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11171819	1.00[AMR][1000 genomes]
rs11171822	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11171823	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs11830379	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11833064	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12305578	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12311878	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12318887	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12322356	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28828444	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55650630	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55728562	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57387549	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59286728	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61522113	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs7131916	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73324353	1.00[AMR][1000 genomes]
rs73324358	1.00[AMR][1000 genomes]
rs73324365	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73324376	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73324378	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73324389	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73324402	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7954200	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7960824	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7969172	0.85[AFR][1000 genomes];0.91[AMR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56770800-56780800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:56779600-56781600	Enhancers	K562	blood
3	chr12:56779800-56781400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:56780000-56781000	Weak transcription	HepG2	liver
5	chr12:56780000-56781800	Enhancers	Fetal Kidney	kidney
6	chr12:56780200-56781400	Enhancers	Hela-S3	cervix
7	chr12:56780200-56781600	Enhancers	Osteobl	bone
8	chr12:56780200-56781800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr12:56780400-56781600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:56780400-56781600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr12:56780400-56781800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:56780600-56781600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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