Variant report

Variant	rs9530461
Chromosome Location	chr13:76259118-76259119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs7322210	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73225927	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7336032	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7338461	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530458	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530459	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530460	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9530462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9544017	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544020	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544021	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544022	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544023	0.92[AMR][1000 genomes]
rs9544024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9544026	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9565181	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573612	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv2751152	chr13:76144199-76288418	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv900579	chr13:76244056-76307981	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76213400-76267800	Weak transcription	Primary T cells from cord blood	blood
2	chr13:76236800-76267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:76250200-76262800	Weak transcription	Fetal Brain Male	brain
4	chr13:76251400-76259600	Weak transcription	Aorta	Aorta
5	chr13:76251600-76259200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr13:76254000-76259200	Weak transcription	HepG2	liver
7	chr13:76257600-76259400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:76257800-76260400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:76258000-76259200	Enhancers	HSMM	muscle
10	chr13:76258000-76260000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:76258000-76260400	Enhancers	Placenta Amnion	Placenta Amnion
12	chr13:76258200-76259200	Enhancers	HMEC	breast
13	chr13:76258200-76259800	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:76258200-76259800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr13:76258200-76260400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:76258200-76260400	Enhancers	Placenta	Placenta
17	chr13:76258400-76259400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr13:76258400-76259600	Enhancers	HSMMtube	muscle
19	chr13:76258600-76259600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:76258600-76260000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr13:76258800-76259200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:76258800-76259400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:76258800-76259400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr13:76258800-76259400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr13:76258800-76259600	Enhancers	Fetal Heart	heart
26	chr13:76258800-76259600	Enhancers	Ovary	ovary
27	chr13:76258800-76259600	Flanking Active TSS	NHLF	lung
28	chr13:76258800-76259600	Flanking Active TSS	Osteobl	bone
29	chr13:76258800-76259800	Flanking Active TSS	NHDF-Ad	bronchial
30	chr13:76258800-76260000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr13:76258800-76260000	Flanking Active TSS	NH-A	brain
32	chr13:76258800-76261400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr13:76259000-76259200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr13:76259000-76259400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr13:76259000-76259400	Enhancers	Fetal Lung	lung
36	chr13:76259000-76259800	Enhancers	H1 Cell Line	embryonic stem cell
37	chr13:76259000-76259800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr13:76259000-76259800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr13:76259000-76259800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr13:76259000-76259800	Enhancers	A549	lung
41	chr13:76259000-76260000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:76259000-76260000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:76259000-76260000	Enhancers	NHEK	skin

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