Variant report

Variant	rs501259
Chromosome Location	chr13:30538244-30538245
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	chr13:30538086..30538804-chr13:30688934..30689691,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11147404	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841228	0.93[ASN][1000 genomes]
rs12429187	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12429599	0.98[ASN][1000 genomes]
rs12430579	0.98[ASN][1000 genomes]
rs12584184	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12584938	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2039952	0.98[ASN][1000 genomes]
rs4769789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs481209	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs502203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs502944	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs512583	0.81[CHB][hapmap]
rs533219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs553661	1.00[ASN][1000 genomes]
rs564388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566495	0.80[CHB][hapmap]
rs576712	0.93[ASN][1000 genomes]
rs641826	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs643508	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs644413	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6490436	0.89[ASN][1000 genomes]
rs6490437	0.90[ASN][1000 genomes]
rs649164	0.86[ASN][1000 genomes]
rs655338	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66986978	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73159331	0.94[ASN][1000 genomes]
rs73159342	0.98[ASN][1000 genomes]
rs7327777	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332851	0.90[ASN][1000 genomes]
rs7333780	0.96[ASN][1000 genomes]
rs7334559	0.93[ASN][1000 genomes]
rs7334714	0.93[ASN][1000 genomes]
rs7358905	0.97[ASN][1000 genomes]
rs7982470	0.98[ASN][1000 genomes]
rs7982637	0.97[ASN][1000 genomes]
rs7983558	0.98[ASN][1000 genomes]
rs7990062	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9314992	0.92[ASN][1000 genomes]
rs9551791	0.84[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv510598	chr13:30476386-30542798	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr13:30537800-30538600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr13:30537800-30539200	Enhancers	H1 Cell Line	embryonic stem cell
3	chr13:30537800-30539600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr13:30538000-30538400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr13:30538000-30538400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr13:30538000-30538400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr13:30538000-30539200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr13:30538200-30538400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr13:30538200-30538400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr13:30538200-30538400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr13:30538200-30538400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin

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