Variant report

Variant	rs456457
Chromosome Location	chr21:40011916-40011917
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	chr21:40006499..40008943-chr21:40009530..40012188,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs459094	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs460214	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs462507	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs462588	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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	nsv1065541	chr21:40009959-40024976	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv1057719	chr21:40009959-40025433	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1058663	chr21:40009959-40031681	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40003800-40014400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr21:40009200-40014600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr21:40010600-40012200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40010600-40015200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr21:40010800-40012200	Enhancers	Aorta	Aorta
6	chr21:40011400-40012000	Enhancers	Primary B cells from peripheral blood	blood
7	chr21:40011400-40012000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40011400-40012000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr21:40011600-40012000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr21:40011600-40012000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr21:40011600-40012000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
12	chr21:40011600-40012000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr21:40011600-40012000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr21:40011600-40012000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr21:40011600-40012000	Enhancers	Fetal Thymus	thymus
16	chr21:40011600-40012000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr21:40011600-40012000	Flanking Active TSS	HMEC	breast
18	chr21:40011800-40012000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr21:40011800-40012000	Bivalent Enhancer	HSMM	muscle
20	chr21:40011800-40012000	Flanking Active TSS	Osteobl	bone

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