Variant report

Variant	rs9573567
Chromosome Location	chr13:76057383-76057384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr13:76054261-76057449	SK-N-SH	brain:	n/a	chr13:76055275-76055284

No.	Distal block	Cell Line	Cell type
1	chr13:76055919..76057695-chr13:76110507..76112437,2	MCF-7	breast:
2	chr13:76055248..76057886-chr13:76110224..76112780,4	MCF-7	breast:
3	chr13:76055434..76058277-chr13:76123047..76126766,3	K562	blood:

Variant related genes	Relation type
TBC1D4	TF binding region
ENSG00000261553	Chromatin interaction
ENSG00000118939	Chromatin interaction
ENSG00000188243	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1323691	0.82[ASN][1000 genomes]
rs1570539	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1570540	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1570541	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328945	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328946	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2328947	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4142591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60343330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6562896	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7318786	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9318349	0.94[ASN][1000 genomes]
rs9543946	0.92[ASN][1000 genomes]
rs9543947	0.83[ASN][1000 genomes]
rs9565165	0.89[ASN][1000 genomes]
rs9565168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9565170	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9573560	0.84[ASN][1000 genomes]
rs9573562	0.85[ASN][1000 genomes]
rs9573563	0.83[ASN][1000 genomes]
rs9573566	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573571	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs961631	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv455987	chr13:75972846-76090084	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv562346	chr13:75972846-76090084	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76052000-76057400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr13:76053200-76057400	Active TSS	Fetal Kidney	kidney
3	chr13:76053600-76057400	Active TSS	Fetal Muscle Leg	muscle
4	chr13:76053600-76057400	Active TSS	NHDF-Ad	bronchial
5	chr13:76053800-76057400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:76054000-76057400	Active TSS	HMEC	breast
7	chr13:76054000-76057400	Active TSS	NHLF	lung
8	chr13:76054200-76057400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr13:76054400-76057400	Active TSS	A549	lung
10	chr13:76054800-76057400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:76055200-76057400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr13:76055200-76057600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr13:76055800-76057400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr13:76055800-76057600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr13:76056600-76057400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:76056800-76057400	Flanking Active TSS	Dnd41	blood
17	chr13:76056800-76060200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:76056800-76060200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr13:76056800-76060200	Weak transcription	Pancreas	Pancrea
20	chr13:76057000-76057400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr13:76057000-76057400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr13:76057000-76057400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:76057000-76057400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr13:76057000-76057400	Enhancers	Rectal Smooth Muscle	rectum
25	chr13:76057000-76057400	Enhancers	GM12878-XiMat	blood
26	chr13:76057000-76057800	Enhancers	Fetal Intestine Small	intestine
27	chr13:76057000-76058200	Weak transcription	Right Atrium	heart
28	chr13:76057000-76059000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr13:76057000-76059000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr13:76057000-76059400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr13:76057000-76059800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:76057000-76060200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr13:76057000-76060200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr13:76057000-76060400	Weak transcription	K562	blood
35	chr13:76057000-76063400	Weak transcription	Hela-S3	cervix
36	chr13:76057000-76064800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr13:76057200-76057400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:76057200-76057400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr13:76057200-76057400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr13:76057200-76057400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr13:76057200-76057400	Enhancers	Primary B cells from cord blood	blood
42	chr13:76057200-76057400	Enhancers	Primary hematopoietic stem cells	blood
43	chr13:76057200-76057400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr13:76057200-76057400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr13:76057200-76057400	Enhancers	Liver	Liver
46	chr13:76057200-76057400	Flanking Active TSS	HUVEC	blood vessel
47	chr13:76057200-76057400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr13:76057200-76057600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr13:76057200-76057600	Enhancers	HepG2	liver
50	chr13:76057200-76057600	Enhancers	Osteobl	bone

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