Variant report

Variant	rs73290364
Chromosome Location	chr12:46900704-46900705
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46897498..46899915-chr12:46900125..46903070,2	MCF-7	breast:
2	chr12:46780011..46782697-chr12:46900139..46902948,3	MCF-7	breast:
3	chr12:46894664..46897223-chr12:46898115..46901985,3	MCF-7	breast:
4	chr12:46762419..46768660-chr12:46899477..46903825,13	MCF-7	breast:
5	chr12:46895836..46897418-chr12:46900604..46903513,2	K562	blood:

Variant related genes	Relation type
ENSG00000257496	Chromatin interaction
ENSG00000258096	Chromatin interaction
ENSG00000134294	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10785631	0.96[EUR][1000 genomes]
rs10880975	0.96[EUR][1000 genomes]
rs10880976	0.96[EUR][1000 genomes]
rs10880977	0.96[EUR][1000 genomes]
rs10880980	0.81[EUR][1000 genomes]
rs11183497	0.84[EUR][1000 genomes]
rs11183507	0.96[EUR][1000 genomes]
rs11504523	0.96[EUR][1000 genomes]
rs11831177	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11836915	0.81[EUR][1000 genomes]
rs12303824	0.84[EUR][1000 genomes]
rs12305921	0.83[EUR][1000 genomes]
rs12578813	0.84[AMR][1000 genomes]
rs12579089	0.84[AMR][1000 genomes]
rs12580121	0.92[EUR][1000 genomes]
rs12580356	0.84[AMR][1000 genomes]
rs12580488	0.84[AMR][1000 genomes]
rs12581205	0.84[AMR][1000 genomes]
rs12581366	0.84[AMR][1000 genomes]
rs12582013	0.84[AMR][1000 genomes]
rs12582476	0.84[AMR][1000 genomes]
rs17594275	0.84[AMR][1000 genomes]
rs17611638	0.84[AMR][1000 genomes]
rs2471581	0.81[EUR][1000 genomes]
rs2471583	0.81[EUR][1000 genomes]
rs4073924	0.81[EUR][1000 genomes]
rs4768731	0.92[EUR][1000 genomes]
rs56399247	0.81[EUR][1000 genomes]
rs57158113	0.81[EUR][1000 genomes]
rs57439008	0.96[EUR][1000 genomes]
rs59521025	0.96[EUR][1000 genomes]
rs60432604	0.81[EUR][1000 genomes]
rs6582666	0.96[EUR][1000 genomes]
rs7295471	0.96[EUR][1000 genomes]
rs73290381	0.81[EUR][1000 genomes]
rs74085431	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs766794	0.84[AMR][1000 genomes]
rs9783500	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46888600-46909200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:46893400-46911600	Weak transcription	Osteobl	bone
3	chr12:46899200-46901400	ZNF genes & repeats	NHEK	skin
4	chr12:46899600-46901200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46899600-46901200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr12:46899600-46901600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:46899800-46901000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:46900000-46901800	Weak transcription	NH-A	brain
9	chr12:46900400-46900800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:46900600-46901600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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