Variant report

Variant	rs4652473
Chromosome Location	chr1:180103166-180103167
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180102053..180104818-chr1:180123174..180124912,3	MCF-7	breast:
2	chr1:180103058..180105624-chr1:180121749..180125496,3	MCF-7	breast:
3	chr1:179799799..179801521-chr1:180102704..180104863,2	K562	blood:
4	chr1:180094976..180098396-chr1:180099565..180103492,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116260	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10753206	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10798729	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10798730	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10798732	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10913927	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10913931	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12027335	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12040314	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12040376	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12080763	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2477116	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2477120	0.82[EUR][1000 genomes]
rs2501607	0.82[EUR][1000 genomes]
rs2501610	0.80[EUR][1000 genomes]
rs2501611	0.80[EUR][1000 genomes]
rs3767200	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3767202	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3818999	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3930305	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4076449	0.82[EUR][1000 genomes]
rs4147169	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4256775	0.84[EUR][1000 genomes]
rs4336810	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4506429	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4651057	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4652462	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4652463	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4652465	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4652470	0.82[EUR][1000 genomes]
rs4652471	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4652472	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4652475	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6425603	0.84[EUR][1000 genomes]
rs6425609	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6657347	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6691060	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6691435	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7525385	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7548486	0.81[EUR][1000 genomes]
rs7551181	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9286932	0.84[EUR][1000 genomes]
rs9425481	0.87[EUR][1000 genomes]
rs9425482	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425483	0.89[ASN][1000 genomes]
rs9425485	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9425486	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425489	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425849	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9425851	0.81[EUR][1000 genomes]
rs9425854	0.84[EUR][1000 genomes]
rs9425855	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9425856	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9425860	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9425861	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9425863	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9425866	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9425868	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv429936	chr1:179790343-180214343	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1003739	chr1:180027760-180483292	Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv535217	chr1:180027760-180483292	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv1012558	chr1:180027960-180217613	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv535218	chr1:180027960-180217613	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv497930	chr1:180031321-180220723	Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv533073	chr1:180031328-180217612	Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription 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 target site	33 gene(s)	inside rSNPs	diseases
8	nsv916937	chr1:180031328-180220685	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers 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	33 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	chr1:180099400-180103800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr1:180101200-180105400	Weak transcription	NH-A	brain
3	chr1:180101400-180104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:180101400-180104800	Weak transcription	HUVEC	blood vessel
5	chr1:180101600-180104800	Weak transcription	Osteobl	bone
6	chr1:180101800-180104600	Weak transcription	NHLF	lung
7	chr1:180102000-180105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:180102400-180105400	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr1:180102600-180103600	Enhancers	K562	blood
10	chr1:180102600-180104200	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr1:180103000-180103400	Enhancers	HepG2	liver
12	chr1:180103000-180105400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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