Variant report

Variant	rs4652470
Chromosome Location	chr1:180102084-180102085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180100009..180102157-chr1:180137696..180140629,2	MCF-7	breast:
2	chr1:180102053..180104818-chr1:180123174..180124912,3	MCF-7	breast:
3	chr1:180097431..180099161-chr1:180099863..180102182,2	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]
rs10798729	0.82[TSI][hapmap]
rs10798730	0.82[EUR][1000 genomes]
rs10798732	0.81[CHB][hapmap];0.84[EUR][1000 genomes]
rs10913918	0.82[CHD][hapmap]
rs10913927	0.82[TSI][hapmap]
rs10913931	0.82[EUR][1000 genomes]
rs11810556	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12040314	0.82[EUR][1000 genomes]
rs12040376	0.82[EUR][1000 genomes]
rs12091685	0.93[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12094391	0.93[ASN][1000 genomes]
rs17371566	0.85[CHB][hapmap];0.93[CHD][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs2281805	0.82[CHD][hapmap]
rs2319676	0.83[JPT][hapmap]
rs2319677	0.92[JPT][hapmap]
rs2477118	0.80[TSI][hapmap]
rs2501607	0.82[TSI][hapmap]
rs2501613	0.82[TSI][hapmap]
rs2501617	0.82[TSI][hapmap]
rs2762859	0.80[TSI][hapmap]
rs3753814	1.00[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs3818999	0.82[TSI][hapmap]
rs4147170	0.92[JPT][hapmap]
rs4336810	0.82[TSI][hapmap];0.82[EUR][1000 genomes]
rs4604657	0.94[ASN][1000 genomes]
rs4622030	0.92[JPT][hapmap]
rs4652471	0.82[EUR][1000 genomes]
rs4652472	0.82[EUR][1000 genomes]
rs4652473	0.82[EUR][1000 genomes]
rs4652476	0.88[ASN][1000 genomes]
rs504202	0.82[CHD][hapmap]
rs551607	0.82[CHD][hapmap]
rs55953436	0.94[ASN][1000 genomes]
rs55971224	0.95[ASN][1000 genomes]
rs561233	0.82[CHD][hapmap]
rs56279106	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6425603	0.82[TSI][hapmap]
rs6425606	0.86[CHD][hapmap];0.92[JPT][hapmap]
rs6425607	0.92[JPT][hapmap]
rs6425609	0.81[GIH][hapmap]
rs6657347	0.82[TSI][hapmap]
rs6682558	0.85[JPT][hapmap]
rs6691435	0.84[TSI][hapmap];0.82[EUR][1000 genomes]
rs72710681	0.85[ASN][1000 genomes]
rs7518534	0.84[CHB][hapmap];0.91[JPT][hapmap];0.85[ASN][1000 genomes]
rs7545835	0.94[ASN][1000 genomes]
rs7547954	0.95[ASN][1000 genomes]
rs7548486	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551181	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs9286932	0.82[TSI][hapmap]
rs9425485	0.81[CHB][hapmap];0.86[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs9425489	0.82[EUR][1000 genomes]
rs9425854	0.82[TSI][hapmap]
rs9425861	0.82[TSI][hapmap]
rs9425863	0.82[EUR][1000 genomes]
rs9425866	0.82[EUR][1000 genomes]
rs9425868	0.84[TSI][hapmap]

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:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180086600-180102400	Weak transcription	Pancreas	Pancrea
2	chr1:180096000-180102400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr1:180099400-180103800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr1:180099800-180103000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:180100200-180102600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr1:180101200-180102600	Enhancers	HepG2	liver
7	chr1:180101200-180105400	Weak transcription	NH-A	brain
8	chr1:180101400-180102600	Weak transcription	K562	blood
9	chr1:180101400-180104800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:180101400-180104800	Weak transcription	HUVEC	blood vessel
11	chr1:180101600-180104800	Weak transcription	Osteobl	bone
12	chr1:180101800-180104600	Weak transcription	NHLF	lung
13	chr1:180102000-180102400	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:180102000-180105400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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