Variant report

Variant	rs62217519
Chromosome Location	chr21:40034390-40034391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:40032723..40034705-chr21:40552796..40555245,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183527	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11088437	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11701577	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11701855	0.90[ASN][1000 genomes]
rs11702165	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212606	0.91[EUR][1000 genomes]
rs2836582	0.88[ASN][1000 genomes]
rs2836597	0.92[EUR][1000 genomes]
rs2836598	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836602	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2836610	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2836611	0.92[ASN][1000 genomes]
rs2836615	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2836621	0.81[EUR][1000 genomes]
rs4143428	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4514962	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs456170	0.80[EUR][1000 genomes]
rs464980	0.81[EUR][1000 genomes]
rs55955614	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58120977	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61085980	0.94[EUR][1000 genomes]
rs61189207	0.88[ASN][1000 genomes]
rs62217513	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62217517	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62217518	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73902704	0.88[ASN][1000 genomes]
rs743444	0.90[ASN][1000 genomes]
rs764482	0.87[EUR][1000 genomes]
rs8128137	0.82[ASN][1000 genomes]
rs8130434	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8132069	0.91[EUR][1000 genomes]
rs9647181	0.82[ASN][1000 genomes]
rs991816	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398749	chr21:40030382-40034780	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	esv3440316	chr21:40031607-40034455	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr21:40028800-40034400	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr21:40029800-40034600	Active TSS	Aorta	Aorta
3	chr21:40031200-40034400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40033200-40034400	Flanking Bivalent TSS/Enh	Osteobl	bone
5	chr21:40033400-40034400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:40033800-40034400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr21:40033800-40034600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr21:40033800-40036200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr21:40033800-40036200	Weak transcription	Gastric	stomach
10	chr21:40034000-40034400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr21:40034000-40034600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr21:40034000-40034600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr21:40034000-40034600	Bivalent Enhancer	Fetal Stomach	stomach
14	chr21:40034200-40034400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
15	chr21:40034200-40034400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
16	chr21:40034200-40034400	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr21:40034200-40034400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr21:40034200-40034400	Bivalent Enhancer	NH-A	brain
19	chr21:40034200-40034800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr21:40034200-40035000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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