Variant report

Variant	rs329486
Chromosome Location	chr2:64267203-64267204
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64245315..64247719-chr2:64265223..64268057,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143952	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10171008	0.88[ASN][1000 genomes]
rs10207847	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125986	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11679748	0.85[CHB][hapmap]
rs12611543	0.95[ASN][1000 genomes]
rs12612549	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes]
rs12615049	0.95[ASN][1000 genomes]
rs1362797	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1440004	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1837484	0.80[CHB][hapmap]
rs2080649	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2164735	0.80[ASN][1000 genomes]
rs2165210	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2302809	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2576837	0.85[CHB][hapmap]
rs2901636	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2901645	0.85[CHB][hapmap]
rs329477	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329480	0.81[CHB][hapmap]
rs329483	0.80[ASN][1000 genomes]
rs329487	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs329490	0.82[ASN][1000 genomes]
rs329497	0.85[CHB][hapmap]
rs329498	0.85[CHB][hapmap]
rs3980405	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4671548	0.85[CHB][hapmap]
rs6546038	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs6546039	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes]
rs6546040	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6546042	0.80[ASN][1000 genomes]
rs6546043	0.83[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6546046	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6705192	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716322	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6716558	0.80[EUR][1000 genomes]
rs6724024	0.90[ASN][1000 genomes]
rs6727120	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6736556	0.80[ASN][1000 genomes]
rs6746875	0.91[EUR][1000 genomes]
rs6757168	0.89[ASN][1000 genomes]
rs7420396	0.88[ASN][1000 genomes]
rs7558544	0.85[CHB][hapmap]
rs7558568	0.85[CHB][hapmap]
rs7559410	0.85[CHB][hapmap]
rs7560265	0.80[ASN][1000 genomes]
rs7572397	0.85[CHB][hapmap]
rs7574193	0.85[CHB][hapmap]
rs7577356	0.85[CHB][hapmap]
rs7589241	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7596262	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602952	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7608885	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2763643	chr2:64219887-64281337	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
4	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:64263800-64267400	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr2:64263800-64267600	Weak transcription	HMEC	breast
4	chr2:64264000-64267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:64264000-64267600	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr2:64266000-64268400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr2:64266200-64268000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr2:64266400-64268200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr2:64266600-64267400	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr2:64266600-64267800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:64266600-64268000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr2:64266600-64268000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:64266800-64267800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:64266800-64268000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr2:64266800-64268000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:64266800-64268200	Enhancers	Fetal Thymus	thymus
17	chr2:64267000-64267800	Enhancers	Dnd41	blood
18	chr2:64267000-64268000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:64267000-64268000	Enhancers	HUVEC	blood vessel
20	chr2:64267000-64268200	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr2:64267000-64268200	Enhancers	Primary T killer memory cells from peripheral blood	blood

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