Variant report

Variant	rs9600565
Chromosome Location	chr13:76441228-76441229
allele	C/T
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	MAFF	chr13:76440967-76441244	HepG2	liver:	n/a	chr13:76441093-76441107 chr13:76441094-76441112
2	MAFK	chr13:76440974-76441228	HepG2	liver:	n/a	chr13:76441092-76441108 chr13:76441095-76441111 chr13:76441093-76441107 chr13:76441095-76441110
3	POLR2A	chr13:76440820-76447842	IMR90	lung:	n/a	n/a
4	POLR2A	chr13:76440729-76441565	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr13:76440700-76441464	ProgFib	skin:	n/a	n/a
6	MAFK	chr13:76440969-76441250	HepG2	liver:	n/a	chr13:76441092-76441108 chr13:76441095-76441111 chr13:76441093-76441107 chr13:76441095-76441110

Variant related genes	Relation type
C13orf45	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7982226	0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.84[MKK][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7982357	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530476	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530480	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9544027	1.00[JPT][hapmap]
rs9544062	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544064	0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.86[MKK][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9593136	0.81[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600564	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9600566	0.86[ASW][hapmap];0.95[CEU][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600569	1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9600570	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9600576	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv832649	chr13:76424872-76657891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76417400-76443800	Weak transcription	Fetal Brain Female	brain
2	chr13:76417600-76444600	Weak transcription	HMEC	breast
3	chr13:76424400-76444200	Weak transcription	Fetal Lung	lung
4	chr13:76428000-76444600	Weak transcription	Fetal Kidney	kidney
5	chr13:76428000-76444800	Weak transcription	Esophagus	oesophagus
6	chr13:76428200-76444400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:76428400-76444600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:76428400-76444600	Weak transcription	Fetal Heart	heart
9	chr13:76429600-76444600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr13:76431000-76444600	Weak transcription	Aorta	Aorta
11	chr13:76431600-76444600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr13:76432000-76444600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:76432200-76443600	Weak transcription	Primary T cells from cord blood	blood
14	chr13:76432200-76444200	Weak transcription	GM12878-XiMat	blood
15	chr13:76432200-76444600	Weak transcription	Fetal Intestine Small	intestine
16	chr13:76432200-76444600	Weak transcription	Fetal Muscle Leg	muscle
17	chr13:76432200-76444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr13:76433000-76444400	Weak transcription	Liver	Liver
19	chr13:76433400-76444200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:76435000-76443800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr13:76435200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr13:76435400-76443200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr13:76435600-76444400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:76436000-76444000	Weak transcription	Fetal Thymus	thymus
25	chr13:76437200-76444600	Weak transcription	HSMMtube	muscle
26	chr13:76438000-76444200	Weak transcription	NHDF-Ad	bronchial
27	chr13:76438200-76444000	Weak transcription	Hela-S3	cervix
28	chr13:76439200-76444200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:76439800-76444400	Weak transcription	A549	lung
30	chr13:76440000-76442000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:76440000-76443800	Weak transcription	Osteobl	bone
32	chr13:76440000-76469200	Weak transcription	HSMM	muscle
33	chr13:76440800-76442400	Enhancers	Ovary	ovary

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