Variant report

Variant	rs6546747
Chromosome Location	chr2:72380823-72380824
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:72372897..72375533-chr2:72379087..72381066,2	K562	blood:
2	chr2:72371800..72374684-chr2:72379552..72382497,3	MCF-7	breast:
3	chr2:72377204..72379877-chr2:72380463..72383459,3	MCF-7	breast:
4	chr2:72378701..72381631-chr2:72382002..72385410,3	K562	blood:

Variant related genes	Relation type
ENSG00000003137	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1002415	0.88[CEU][hapmap]
rs10166057	0.85[ASN][1000 genomes]
rs10202129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs10490039	0.88[CEU][hapmap]
rs10490040	0.88[CEU][hapmap]
rs13339845	0.88[CEU][hapmap]
rs13407599	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007927	0.88[CEU][hapmap]
rs17007929	0.88[CEU][hapmap]
rs17007933	0.88[CEU][hapmap]
rs17007934	0.88[CEU][hapmap]
rs17007937	0.88[CEU][hapmap]
rs2192012	0.88[CEU][hapmap]
rs2901091	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3768638	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3768639	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3768641	1.00[JPT][hapmap]
rs62150093	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62150094	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62150096	0.90[EUR][1000 genomes]
rs6546745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6546746	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6546748	1.00[ASN][1000 genomes]
rs6705261	0.88[CEU][hapmap]
rs6705347	0.88[CEU][hapmap]
rs6710195	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738598	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6738942	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6748698	0.88[CEU][hapmap]
rs7557210	0.92[ASN][1000 genomes]
rs7596302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9309462	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv582207	chr2:72329603-72389334	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv963919	chr2:72372956-72830387	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:72377600-72381400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:72378000-72382600	Weak transcription	Fetal Heart	heart
3	chr2:72380200-72381600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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