Variant report

Variant	rs9809591
Chromosome Location	chr3:112533579-112533580
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:112359489..112361837-chr3:112533181..112535560,3	MCF-7	breast:
2	chr3:112453334..112454209-chr3:112532709..112533764,9	MCF-7	breast:
3	chr3:112524734..112528848-chr3:112531352..112536071,5	MCF-7	breast:
4	chr3:112453464..112454625-chr3:112532432..112533580,5	MCF-7	breast:
5	chr3:112361571..112362571-chr3:112533058..112533791,3	K562	blood:
6	chr3:112527413..112529549-chr3:112531085..112533830,2	MCF-7	breast:
7	chr3:112361676..112362437-chr3:112532636..112533651,5	MCF-7	breast:
8	chr3:112361525..112362326-chr3:112533114..112533631,2	MCF-7	breast:
9	chr3:112355777..112361345-chr3:112530635..112535712,9	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000091986	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13064268	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13064475	0.94[ASN][1000 genomes]
rs13064496	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1387015	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1387021	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2399432	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682434	0.80[EUR][1000 genomes]
rs6773083	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6784658	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7614868	0.87[ASN][1000 genomes]
rs9835599	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv877343	chr3:112470586-112597706	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:112528800-112533600	Enhancers	Placenta Amnion	Placenta Amnion
2	chr3:112529200-112533600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:112529600-112533600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:112529800-112534000	Enhancers	A549	lung
5	chr3:112530200-112533600	Enhancers	NHDF-Ad	bronchial
6	chr3:112530200-112533800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr3:112530200-112538800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr3:112530400-112534000	Enhancers	Primary B cells from peripheral blood	blood
9	chr3:112530600-112533600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:112531800-112533600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:112532200-112533600	Enhancers	Primary hematopoietic stem cells	blood
12	chr3:112532800-112533800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
13	chr3:112533000-112535200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:112533000-112536200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr3:112533200-112534000	Enhancers	Primary B cells from cord blood	blood
16	chr3:112533200-112534400	Weak transcription	NHLF	lung
17	chr3:112533200-112536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:112533200-112537200	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:112533200-112543200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr3:112533400-112533600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr3:112533400-112533600	Flanking Active TSS	GM12878-XiMat	blood

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