Variant report

Variant	rs11582423
Chromosome Location	chr1:150493925-150493926
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150487651..150489770-chr1:150493797..150495411,2	MCF-7	breast:
2	chr1:150488026..150490995-chr1:150492284..150496607,5	MCF-7	breast:
3	chr1:150492880..150495279-chr1:150516728..150518247,2	K562	blood:
4	chr1:150486848..150489807-chr1:150493277..150496386,3	K562	blood:
5	chr1:150485402..150490792-chr1:150492621..150497993,6	K562	blood:

Variant related genes	Relation type
ENSG00000228126	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs11205373	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs11205385	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11577600	0.96[CEU][hapmap];0.83[AMR][1000 genomes]
rs11577843	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs11581351	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11587116	0.84[AMR][1000 genomes]
rs11587575	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs11590324	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11590787	0.82[AMR][1000 genomes]
rs12028001	0.83[AMR][1000 genomes]
rs12029359	0.93[CHB][hapmap]
rs12040949	0.89[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12045304	0.82[AMR][1000 genomes]
rs12046899	0.93[CHB][hapmap]
rs1260367	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1260407	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs1260411	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs1260459	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs13294	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1498308	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1625468	0.92[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1694364	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs1694385	0.82[AMR][1000 genomes]
rs17596326	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs17597088	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1815544	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1932934	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs2794679	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs2794681	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2867893	0.84[AMR][1000 genomes]
rs2867894	0.84[AMR][1000 genomes]
rs2873669	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3737240	0.92[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3738487	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4446975	0.93[CHB][hapmap];0.88[JPT][hapmap]
rs4451552	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4926395	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs4926436	0.83[AMR][1000 genomes]
rs4971010	0.88[JPT][hapmap]
rs55742549	0.82[AMR][1000 genomes]
rs55823828	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55996928	0.81[AMR][1000 genomes]
rs59898460	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6662108	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs6703652	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs696616	0.96[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap]
rs696618	0.89[CEU][hapmap];0.88[CHB][hapmap];0.89[JPT][hapmap]
rs698913	0.86[CHB][hapmap];0.94[JPT][hapmap]
rs698916	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs698919	0.82[AMR][1000 genomes]
rs7002	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs72696885	0.83[AMR][1000 genomes]
rs72696900	0.83[AMR][1000 genomes]
rs7513205	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7523428	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap]
rs7538981	0.81[AMR][1000 genomes]
rs7548085	0.92[CHB][hapmap];0.92[JPT][hapmap]
rs7553867	0.83[EUR][1000 genomes]
rs832622	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs834231	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs834232	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs834234	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs834242	0.93[CHB][hapmap];0.94[JPT][hapmap]
rs9436112	0.96[CEU][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes]
rs9436125	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9436127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
2	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
3	esv1814231	chr1:150479528-150540117	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11582423	MRPS21	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150489000-150494800	Weak transcription	Esophagus	oesophagus
2	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
3	chr1:150489200-150494400	Weak transcription	Psoas Muscle	Psoas
4	chr1:150489200-150498200	Weak transcription	Fetal Intestine Small	intestine
5	chr1:150489200-150501800	Weak transcription	Right Atrium	heart
6	chr1:150489400-150497000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr1:150489400-150500200	Weak transcription	Osteobl	bone
8	chr1:150489400-150500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr1:150489600-150498400	Weak transcription	Fetal Stomach	stomach
10	chr1:150489600-150501600	Weak transcription	Brain Anterior Caudate	brain
11	chr1:150490200-150494200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:150490600-150500400	Weak transcription	Stomach Mucosa	stomach
13	chr1:150493800-150495000	Enhancers	Skeletal Muscle Female	skeletal muscle

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