Variant report

Variant	rs2823135
Chromosome Location	chr21:16570484-16570485
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:16570442..16572661-chr21:16665803..16668621,2	MCF-7	breast:
2	chr21:16506016..16509076-chr21:16569179..16572213,3	MCF-7	breast:
3	chr21:16570410..16572952-chr21:16744868..16746614,2	MCF-7	breast:
4	chr21:16570464..16574427-chr21:16815066..16817993,4	MCF-7	breast:
5	chr21:16564425..16567335-chr21:16570458..16574314,5	MCF-7	breast:
6	chr21:16429926..16439498-chr21:16561851..16585948,113	MCF-7	breast:
7	chr21:16421751..16443998-chr21:16557859..16589610,273	MCF-7	breast:
8	chr21:16569254..16574166-chr21:16662821..16666093,6	MCF-7	breast:
9	chr21:16239516..16243603-chr21:16570212..16573471,3	MCF-7	breast:
10	chr21:16492929..16496497-chr21:16570239..16574662,7	MCF-7	breast:
11	chr21:16569632..16571997-chr9:114245370..114247044,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000136813	Chromatin interaction
ENSG00000180530	Chromatin interaction
ENSG00000236471	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11088317	0.90[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11909473	0.82[ASN][1000 genomes]
rs2205439	1.00[JPT][hapmap]
rs2403907	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2823125	1.00[JPT][hapmap]
rs2823128	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823129	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823131	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823132	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823133	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823134	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2823136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2823137	0.85[CEU][hapmap];0.80[CHB][hapmap];0.84[AMR][1000 genomes]
rs2823138	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs2823139	0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs60893125	0.92[AFR][1000 genomes]
rs7275438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7275695	0.90[CEU][hapmap];0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7276622	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7282349	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs926167	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	nsv1063385	chr21:16521617-16926212	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv913413	chr21:16537728-16621859	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 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	chr21:16565000-16571000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:16565800-16573400	Enhancers	HepG2	liver
3	chr21:16566800-16571800	Weak transcription	K562	blood
4	chr21:16568400-16571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr21:16568400-16571800	Weak transcription	Fetal Kidney	kidney
6	chr21:16569400-16571000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr21:16569400-16572400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr21:16569600-16570800	Enhancers	Adipose Nuclei	Adipose
9	chr21:16569600-16571600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr21:16569800-16573600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:16570200-16573200	Enhancers	Fetal Heart	heart

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