Variant report

Variant	rs930415
Chromosome Location	chr5:124632005-124632006
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10900775	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11747033	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11750563	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12657560	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13164435	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1439598	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1439599	0.84[ASN][1000 genomes]
rs1439600	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1439601	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1439614	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1444648	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1444649	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1550371	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1550372	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1898913	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2408380	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35598441	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3898799	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4507483	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs751657	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs930416	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv1034696	chr5:124616571-124654771	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs930415	PHAX	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124627800-124633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr5:124629000-124634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:124629600-124634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:124630400-124634600	Weak transcription	Fetal Brain Male	brain
5	chr5:124630800-124633800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:124630800-124637200	Weak transcription	Fetal Brain Female	brain
7	chr5:124631400-124632400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:124631400-124633200	Enhancers	Spleen	Spleen
9	chr5:124631400-124639400	Weak transcription	Fetal Kidney	kidney
10	chr5:124631600-124633400	Weak transcription	Fetal Heart	heart
11	chr5:124631600-124633800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:124631600-124634000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:124631600-124634000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:124631600-124634000	Weak transcription	HSMM	muscle
15	chr5:124631800-124632400	Weak transcription	HUVEC	blood vessel
16	chr5:124631800-124633400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:124631800-124633600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:124631800-124633800	Weak transcription	HMEC	breast
19	chr5:124631800-124634000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:124631800-124634600	Weak transcription	NHDF-Ad	bronchial
21	chr5:124632000-124633800	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links