Variant report

Variant	rs1473066
Chromosome Location	chr12:59438812-59438813
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59431224..59433433-chr12:59436117..59438900,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10506355	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11172875	0.89[AFR][1000 genomes]
rs1155738	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611527	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611557	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11613224	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1474115	0.90[AFR][1000 genomes]
rs17121884	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121944	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1878871	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4570622	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6581226	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6581227	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59431000-59441800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:59436000-59439200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:59436000-59440800	Weak transcription	Fetal Kidney	kidney
4	chr12:59436200-59439800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:59436800-59440200	Weak transcription	HUVEC	blood vessel
6	chr12:59436800-59440600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:59437000-59440000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:59437000-59440600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:59437000-59440600	Weak transcription	Hela-S3	cervix
10	chr12:59437400-59440000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:59437400-59440000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:59437400-59440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:59438000-59439400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr12:59438000-59439400	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:59438000-59439600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr12:59438200-59439600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr12:59438200-59440000	Weak transcription	HMEC	breast
18	chr12:59438400-59440000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr12:59438400-59440000	Weak transcription	NHEK	skin
20	chr12:59438400-59440800	Weak transcription	NHLF	lung
21	chr12:59438600-59439200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr12:59438800-59439800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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