Variant report

Variant	rs580123
Chromosome Location	chr7:99460458-99460459
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	chr7:99459096..99460901-chr7:99516939..99518497,2	MCF-7	breast:
2	chr7:99358230..99360940-chr7:99460072..99462897,2	K562	blood:

Variant related genes	Relation type
ENSG00000146833	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10215184	1.00[ASN][1000 genomes]
rs10225908	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10236386	1.00[ASN][1000 genomes]
rs10245581	1.00[ASN][1000 genomes]
rs10272125	1.00[ASN][1000 genomes]
rs11505840	1.00[ASN][1000 genomes]
rs11505841	1.00[ASN][1000 genomes]
rs11977827	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs11980179	1.00[ASN][1000 genomes]
rs11981167	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.87[MKK][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17161997	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28371764	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28449324	1.00[ASN][1000 genomes]
rs28988579	1.00[ASN][1000 genomes]
rs34096782	1.00[ASN][1000 genomes]
rs34288759	1.00[ASN][1000 genomes]
rs34395561	1.00[ASN][1000 genomes]
rs34868357	1.00[ASN][1000 genomes]
rs34967184	1.00[ASN][1000 genomes]
rs35141942	1.00[ASN][1000 genomes]
rs35405904	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35649099	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs472667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs480596	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs487813	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs496000	1.00[CHB][hapmap]
rs501275	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs516481	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs517284	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523407	1.00[ASN][1000 genomes]
rs528144	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs545400	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs549061	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs558002	1.00[ASN][1000 genomes]
rs558112	1.00[ASN][1000 genomes]
rs559239	0.85[CEU][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs565079	1.00[ASN][1000 genomes]
rs568859	1.00[ASN][1000 genomes]
rs57256111	1.00[ASN][1000 genomes]
rs57772941	1.00[ASN][1000 genomes]
rs579424	1.00[ASN][1000 genomes]
rs583353	1.00[ASN][1000 genomes]
rs585071	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs599151	1.00[ASN][1000 genomes]
rs613963	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs620020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs641761	1.00[ASN][1000 genomes]
rs642761	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs646563	1.00[ASN][1000 genomes]
rs648515	1.00[ASN][1000 genomes]
rs660629	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs663476	1.00[ASN][1000 genomes]
rs663493	1.00[ASN][1000 genomes]
rs663495	1.00[ASN][1000 genomes]
rs66629054	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs667660	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs66953435	1.00[ASN][1000 genomes]
rs671673	1.00[ASN][1000 genomes]
rs675644	1.00[ASN][1000 genomes]
rs678040	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs679320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs680055	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs687134	1.00[ASN][1000 genomes]
rs688926	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694924	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs694939	1.00[ASN][1000 genomes]
rs6957718	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6960775	1.00[ASN][1000 genomes]
rs7787525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[ASN][1000 genomes]
rs7798789	1.00[ASN][1000 genomes]
rs800666	1.00[ASN][1000 genomes]
rs800667	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs800673	1.00[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	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	esv3476466	chr7:99459416-99464314	Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	esv3508513	chr7:99460216-99464714	Bivalent Enhancer Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv1814542	chr7:99460458-99463380	Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99433800-99465000	Strong transcription	Liver	Liver
2	chr7:99456600-99460600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr7:99458200-99489600	Weak transcription	Pancreas	Pancrea
4	chr7:99458600-99461600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:99458800-99460600	Enhancers	HepG2	liver

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