Variant report

Variant	rs4583399
Chromosome Location	chr2:142257971-142257972
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142257639..142260616-chr2:142261708..142263676,2	MCF-7	breast:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10169644	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10169745	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10173806	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10184273	0.85[CEU][hapmap]
rs10204321	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10204413	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10204727	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10928105	0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11895715	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12053264	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12053266	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12053452	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12053570	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.94[ASN][1000 genomes]
rs12053574	0.92[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12151429	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12151669	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12467062	0.95[JPT][hapmap]
rs12472514	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12478973	0.87[JPT][hapmap]
rs12611851	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12621499	0.95[JPT][hapmap]
rs12993733	1.00[YRI][hapmap]
rs13007713	0.95[CHB][hapmap];0.91[JPT][hapmap];0.94[ASN][1000 genomes]
rs13013202	0.91[ASN][1000 genomes]
rs13023434	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13391905	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs13411666	0.82[ASN][1000 genomes]
rs13418036	0.89[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13418422	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1483141	0.95[JPT][hapmap]
rs16846151	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs16846362	0.94[YRI][hapmap]
rs2200192	0.82[JPT][hapmap]
rs34333390	0.82[EUR][1000 genomes]
rs4245858	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4264514	0.82[CEU][hapmap]
rs4271710	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs4296374	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4327189	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4338922	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4340449	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4384715	0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs4430882	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4476293	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4507040	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4544370	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs4599051	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4644970	0.92[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4954910	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62166338	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62167876	0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6429887	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.94[ASN][1000 genomes]
rs6429890	0.93[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.93[ASN][1000 genomes]
rs6429891	0.91[ASN][1000 genomes]
rs6429892	0.90[ASN][1000 genomes]
rs6429894	0.91[ASN][1000 genomes]
rs6723276	0.82[CEU][hapmap];0.83[CHB][hapmap]
rs6725282	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6729073	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6729618	0.93[ASN][1000 genomes]
rs6729691	0.91[ASN][1000 genomes]
rs6738081	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6741998	1.00[YRI][hapmap]
rs6759197	0.82[EUR][1000 genomes]
rs68142404	0.83[ASN][1000 genomes]
rs72849086	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7340298	0.92[ASN][1000 genomes]
rs7340300	0.86[ASN][1000 genomes]
rs7340384	0.91[ASN][1000 genomes]
rs7569047	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7583765	0.83[ASN][1000 genomes]
rs7593962	0.95[JPT][hapmap]
rs9287318	0.82[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817518	chr2:141714174-142287302	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
4	nsv875243	chr2:142219033-142259592	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv459607	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv583207	chr2:142226768-142263400	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
7	nsv459618	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv583209	chr2:142246988-142263746	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
9	nsv470491	chr2:142254119-142299923	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
10	nsv821740	chr2:142255019-142259467	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
11	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142247800-142266200	Weak transcription	Brain Anterior Caudate	brain
2	chr2:142256000-142258800	Weak transcription	Dnd41	blood
3	chr2:142256400-142263600	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:142257600-142258000	Enhancers	Brain Substantia Nigra	brain
5	chr2:142257600-142258200	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr2:142257800-142259200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:142257800-142265800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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