Variant report

Variant	rs12521045
Chromosome Location	chr5:124613893-124613894
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10463490	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530450	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs1562125	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1595712	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17152509	0.86[CEU][hapmap];0.85[EUR][1000 genomes]
rs17152529	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2165154	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs719829	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs732776	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882823	chr5:124569471-124639468	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124609000-124614800	Enhancers	HUVEC	blood vessel
2	chr5:124609600-124614200	Enhancers	Hela-S3	cervix
3	chr5:124611600-124617200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:124611600-124617200	Weak transcription	Colon Smooth Muscle	Colon
5	chr5:124611800-124617200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:124612200-124614200	Enhancers	A549	lung
7	chr5:124612400-124614200	Enhancers	HMEC	breast
8	chr5:124612400-124614400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:124612600-124614000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:124612600-124614000	Enhancers	NHEK	skin
11	chr5:124612600-124614200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:124612600-124614400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr5:124612600-124614400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:124612600-124614800	Enhancers	NH-A	brain
15	chr5:124612800-124616800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:124612800-124617200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr5:124613000-124614000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:124613000-124614000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:124613000-124614200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:124613200-124614000	Enhancers	HSMMtube	muscle
21	chr5:124613200-124614000	Enhancers	Osteobl	bone
22	chr5:124613400-124614000	Enhancers	Stomach Mucosa	stomach
23	chr5:124613400-124614800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:124613600-124614000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr5:124613600-124617200	Weak transcription	Fetal Heart	heart
26	chr5:124613800-124614400	Enhancers	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links