Variant report

Variant	rs721216
Chromosome Location	chr3:24513279-24513280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:24493025..24495680-chr3:24512509..24514298,2	K562	blood:
2	chr3:24510050..24515409-chr3:24534368..24537620,7	MCF-7	breast:
3	chr3:24510569..24514143-chr3:24516133..24518576,3	K562	blood:
4	chr3:24511789..24514431-chr3:24534388..24537001,3	MCF-7	breast:
5	chr3:24510569..24514476-chr3:24514887..24518486,4	K562	blood:

Variant related genes	Relation type
ENSG00000228791	Chromatin interaction
ENSG00000151090	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs62228829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62228850	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62228852	1.00[EUR][1000 genomes]
rs62228853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62228855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62228856	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62228859	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62230460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62230463	1.00[AMR][1000 genomes]
rs62230464	1.00[AMR][1000 genomes]
rs73036459	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73036460	1.00[AMR][1000 genomes]
rs9845983	1.00[CEU][hapmap];1.00[EUR][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	nsv834641	chr3:24465862-24633738	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
2	nsv834642	chr3:24475558-24640593	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1012975	chr3:24500706-24615644	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24499600-24526800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr3:24503200-24517200	Weak transcription	Colon Smooth Muscle	Colon
3	chr3:24504600-24517400	Weak transcription	Right Ventricle	heart
4	chr3:24509600-24531000	Weak transcription	Fetal Lung	lung
5	chr3:24510000-24517400	Weak transcription	NHDF-Ad	bronchial
6	chr3:24511000-24517400	Weak transcription	Fetal Intestine Small	intestine
7	chr3:24512200-24513400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr3:24512400-24513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:24512600-24514200	Enhancers	Psoas Muscle	Psoas
10	chr3:24512800-24513800	Enhancers	Placenta Amnion	Placenta Amnion
11	chr3:24513000-24513600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:24513000-24513600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr3:24513000-24513600	Enhancers	Adipose Nuclei	Adipose
14	chr3:24513000-24514000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:24513000-24514200	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:24513200-24513600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr3:24513200-24514000	Enhancers	Liver	Liver
18	chr3:24513200-24514000	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr3:24513200-24514200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr3:24513200-24514400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr3:24513200-24514600	Enhancers	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links