Variant report

Variant	rs4480663
Chromosome Location	chr13:38189664-38189665
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1006416	0.88[YRI][hapmap]
rs1333355	1.00[AMR][1000 genomes]
rs1333356	1.00[AMR][1000 genomes]
rs1333357	1.00[AMR][1000 genomes]
rs1333363	1.00[AMR][1000 genomes]
rs1413000	1.00[AMR][1000 genomes]
rs1475245	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1570610	1.00[AMR][1000 genomes]
rs1577008	1.00[AMR][1000 genomes]
rs1924282	1.00[AMR][1000 genomes]
rs1924284	1.00[AMR][1000 genomes]
rs1924287	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1924294	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1924297	1.00[AMR][1000 genomes]
rs1924305	1.00[AMR][1000 genomes]
rs1924308	1.00[AMR][1000 genomes]
rs1981057	1.00[AMR][1000 genomes]
rs2031272	1.00[AMR][1000 genomes]
rs2031273	0.82[ASW][hapmap];1.00[AMR][1000 genomes]
rs2957213	1.00[AMR][1000 genomes]
rs2985157	1.00[AMR][1000 genomes]
rs2985158	1.00[AMR][1000 genomes]
rs2985166	1.00[AMR][1000 genomes]
rs2985171	1.00[AMR][1000 genomes]
rs2985172	1.00[AMR][1000 genomes]
rs4343144	1.00[AMR][1000 genomes]
rs4418936	1.00[AMR][1000 genomes]
rs4595666	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4943530	1.00[AMR][1000 genomes]
rs615491	1.00[AMR][1000 genomes]
rs6563568	1.00[AMR][1000 genomes]
rs662478	1.00[AMR][1000 genomes]
rs669862	1.00[AMR][1000 genomes]
rs7334202	1.00[AMR][1000 genomes]
rs7989413	1.00[AMR][1000 genomes]
rs7990804	1.00[AMR][1000 genomes]
rs8002347	1.00[AMR][1000 genomes]
rs912386	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9285117	1.00[AMR][1000 genomes]
rs9547964	0.88[YRI][hapmap]
rs9547965	0.85[YRI][hapmap]
rs9547981	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9547989	1.00[AMR][1000 genomes]
rs9548002	1.00[AMR][1000 genomes]
rs9548019	1.00[AMR][1000 genomes]
rs959269	1.00[AMR][1000 genomes]
rs9603229	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4480663	ANXA5	trans	lymphoblastoid	seeQTL

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38177000-38190400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr13:38188400-38189800	Weak transcription	NHDF-Ad	bronchial
3	chr13:38189000-38189800	Enhancers	NHEK	skin
4	chr13:38189200-38191000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr13:38189400-38189800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:38189400-38189800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:38189400-38189800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:38189400-38189800	Enhancers	HMEC	breast
10	chr13:38189400-38190400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:38189400-38191600	Enhancers	HSMM	muscle
12	chr13:38189400-38191600	Enhancers	Osteobl	bone
13	chr13:38189400-38192800	Enhancers	NH-A	brain
14	chr13:38189600-38189800	Enhancers	HSMMtube	muscle
15	chr13:38189600-38189800	Enhancers	NHLF	lung
16	chr13:38189600-38190600	Enhancers	Fetal Heart	heart
17	chr13:38189600-38191000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr13:38189600-38193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links