Variant report

Variant	rs57743480
Chromosome Location	chr2:99703389-99703390
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	chr2:99703138..99704885-chr2:99770602..99772136,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135951	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000273155	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10496334	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10496335	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11123760	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11123767	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11123768	0.93[EUR][1000 genomes]
rs11526114	0.86[EUR][1000 genomes]
rs12233087	0.86[EUR][1000 genomes]
rs12620997	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1586434	0.86[EUR][1000 genomes]
rs17022180	0.81[AMR][1000 genomes]
rs17022249	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2277876	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28785294	1.00[EUR][1000 genomes]
rs28794804	0.81[AMR][1000 genomes]
rs34751553	0.81[AMR][1000 genomes]
rs35071324	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35458525	0.81[AMR][1000 genomes]
rs3762472	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3791211	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56691336	0.81[AMR][1000 genomes]
rs56926889	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57273701	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58595226	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58635701	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58745514	1.00[EUR][1000 genomes]
rs59252741	0.81[AMR][1000 genomes]
rs59506582	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60056452	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60516303	0.81[AMR][1000 genomes]
rs60653099	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6719145	0.86[EUR][1000 genomes]
rs6746969	0.86[EUR][1000 genomes]
rs6748497	0.86[EUR][1000 genomes]
rs6749198	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7568749	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9752510	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834310	chr2:99533832-99709999	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99700400-99707400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:99702600-99703800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr2:99703000-99706600	Enhancers	Dnd41	blood

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