Variant report

Variant	rs329477
Chromosome Location	chr2:64256901-64256902
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:64246955..64249358-chr2:64255526..64257239,3	K562	blood:
2	chr2:64256185..64258127-chr2:64260254..64262848,2	K562	blood:
3	chr2:64251335..64255008-chr2:64255786..64259305,3	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10171008	0.90[ASN][1000 genomes]
rs10187013	1.00[CEU][hapmap]
rs10207847	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11125986	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12611543	0.96[ASN][1000 genomes]
rs12612549	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.86[EUR][1000 genomes]
rs12615049	0.96[ASN][1000 genomes]
rs12988868	0.81[ASN][1000 genomes]
rs1362797	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1440004	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2080649	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2165210	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2302809	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2901636	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs329480	0.84[CHB][hapmap]
rs329486	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329487	0.85[AMR][1000 genomes]
rs329490	0.81[ASN][1000 genomes]
rs3980405	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4072113	0.82[EUR][1000 genomes]
rs6546038	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[CHD][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.85[EUR][1000 genomes]
rs6546039	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.97[TSI][hapmap];0.91[EUR][1000 genomes]
rs6546040	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6546042	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6546043	0.82[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6546046	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6705192	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6716322	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6716558	0.82[EUR][1000 genomes]
rs6724024	0.92[ASN][1000 genomes]
rs6727120	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6736556	0.80[ASN][1000 genomes]
rs6746875	0.93[EUR][1000 genomes]
rs6757168	0.91[ASN][1000 genomes]
rs7420396	0.90[ASN][1000 genomes]
rs7560265	0.80[ASN][1000 genomes]
rs7589241	0.87[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7596262	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7602952	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7608885	0.88[AMR][1000 genomes];0.90[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64247600-64262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:64251200-64273200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:64254000-64258000	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:64255400-64257000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:64255400-64257000	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr2:64256200-64257200	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr2:64256400-64257000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:64256400-64257200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr2:64256400-64257400	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr2:64256600-64257400	Enhancers	Stomach Mucosa	stomach
11	chr2:64256800-64262200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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