Variant report

Variant	rs11747033
Chromosome Location	chr5:124630921-124630922
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10900775	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11750563	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12657560	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13164435	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1439598	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1439599	0.87[ASN][1000 genomes]
rs1439600	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1439601	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1439614	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1444648	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1444649	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1550371	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1550372	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1898913	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2408380	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35598441	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3898799	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4507483	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs751657	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs930415	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930416	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[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

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:124614400-124631400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:124627800-124633800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr5:124629000-124634000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:124629400-124631600	Enhancers	Fetal Heart	heart
5	chr5:124629600-124634000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr5:124629800-124631200	Weak transcription	Dnd41	blood
7	chr5:124630400-124631800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr5:124630400-124634600	Weak transcription	Fetal Brain Male	brain
9	chr5:124630600-124631000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:124630600-124631000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:124630800-124633800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:124630800-124637200	Weak transcription	Fetal Brain Female	brain

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