Variant report

Variant	rs223293
Chromosome Location	chr6:57109365-57109366
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:56818129..56820327-chr6:57108521..57111266,2	K562	blood:
2	chr6:57086898..57089144-chr6:57109053..57111466,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112210	Chromatin interaction
ENSG00000151917	Chromatin interaction
ENSG00000151914	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10081080	0.93[ASN][1000 genomes]
rs106782	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751737	0.86[ASN][1000 genomes]
rs11752218	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11752964	0.95[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11758642	0.86[ASN][1000 genomes]
rs13193843	0.80[ASN][1000 genomes]
rs13194005	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13194760	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13195089	0.86[ASN][1000 genomes]
rs13196690	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13197168	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13197209	0.80[ASN][1000 genomes]
rs13197224	0.89[AMR][1000 genomes]
rs13197375	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13202171	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13210513	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13210602	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13210603	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13213618	0.93[ASN][1000 genomes]
rs13219670	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1330630	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1330631	0.80[ASN][1000 genomes]
rs1330632	0.80[ASN][1000 genomes]
rs1330633	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17683360	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs223286	0.93[EUR][1000 genomes]
rs223290	0.81[EUR][1000 genomes]
rs223292	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs223295	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34316771	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35060539	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs380307	0.93[ASN][1000 genomes]
rs494410	0.82[EUR][1000 genomes]
rs599227	0.89[EUR][1000 genomes]
rs6901430	0.80[ASN][1000 genomes]
rs6917004	0.80[ASN][1000 genomes]
rs6927231	0.93[ASN][1000 genomes]
rs71564886	0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71566846	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71566847	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs71566848	0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1034095	chr6:57102042-57162808	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv528165	chr6:57104266-57130574	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 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	chr6:57108200-57112000	Weak transcription	Osteobl	bone
2	chr6:57108200-57112200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:57108200-57112200	Weak transcription	NHLF	lung
4	chr6:57108200-57116600	Weak transcription	Colon Smooth Muscle	Colon
5	chr6:57108200-57116600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:57108200-57117400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr6:57108200-57117400	Weak transcription	NHDF-Ad	bronchial
8	chr6:57108400-57109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr6:57108400-57112200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr6:57108400-57117400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:57108600-57111800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:57108800-57114600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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