Variant report

Variant	rs12132918
Chromosome Location	chr1:150498138-150498139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:150495842..150498537-chr1:150500315..150501936,2	K562	blood:
2	chr1:150252813..150255302-chr1:150496742..150498399,2	MCF-7	breast:
3	chr1:150498015..150500360-chr1:150515129..150517476,2	K562	blood:

Variant related genes	Relation type
ENSG00000159208	Chromatin interaction

Extended variants
information (count: 117 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs1011546	1.00[CHB][hapmap]
rs1043293	1.00[CHB][hapmap]
rs10788874	1.00[CHB][hapmap]
rs10888582	1.00[CHB][hapmap]
rs11204665	1.00[AFR][1000 genomes]
rs11205361	1.00[ASN][1000 genomes]
rs11205362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs11205366	1.00[CHB][hapmap]
rs11205367	1.00[AFR][1000 genomes]
rs11205369	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs11205374	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11205377	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11205383	1.00[CHB][hapmap]
rs11205386	0.89[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11576289	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11576293	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11577751	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11578585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11579341	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11580234	1.00[ASN][1000 genomes]
rs11580764	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11580810	1.00[CHB][hapmap]
rs11581051	1.00[CHB][hapmap]
rs11582094	1.00[CHB][hapmap]
rs11582835	1.00[ASN][1000 genomes]
rs11584070	1.00[ASN][1000 genomes]
rs11586880	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11587606	1.00[ASN][1000 genomes]
rs11587682	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11587837	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11588221	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11808242	1.00[CHB][hapmap]
rs11811950	1.00[CHB][hapmap]
rs12119250	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs12119320	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12120428	1.00[AFR][1000 genomes]
rs12120683	1.00[ASN][1000 genomes]
rs12120867	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12121966	1.00[CHB][hapmap]
rs12123044	1.00[ASN][1000 genomes]
rs12126312	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12128385	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12128653	1.00[CHB][hapmap]
rs12129037	0.86[EUR][1000 genomes]
rs12129491	1.00[CHB][hapmap]
rs12130082	1.00[CHB][hapmap]
rs12130583	1.00[CHB][hapmap]
rs12131083	1.00[CHB][hapmap]
rs12131376	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134306	1.00[CHB][hapmap]
rs12134634	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12134682	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12138453	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12139770	1.00[ASN][1000 genomes]
rs12140697	1.00[CHB][hapmap]
rs12142196	1.00[CHB][hapmap]
rs12142331	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12142874	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12144958	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs12726415	1.00[CHB][hapmap]
rs12731738	1.00[CHB][hapmap]
rs12738490	1.00[CHB][hapmap]
rs12739019	1.00[CHB][hapmap]
rs12741448	1.00[CHB][hapmap]
rs12757823	1.00[CHB][hapmap]
rs1343965	1.00[CHB][hapmap]
rs16836143	1.00[CHB][hapmap]
rs1980062	0.96[EUR][1000 genomes]
rs2133128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28560019	1.00[ASN][1000 genomes]
rs34355066	1.00[ASN][1000 genomes]
rs34645101	1.00[ASN][1000 genomes]
rs34848955	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850841	1.00[CHB][hapmap]
rs3862206	1.00[CHB][hapmap]
rs41264469	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs41266901	1.00[ASN][1000 genomes]
rs41266927	1.00[ASN][1000 genomes]
rs41273537	1.00[AFR][1000 genomes]
rs41300865	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs41317523	1.00[ASN][1000 genomes]
rs4265470	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55772167	1.00[ASN][1000 genomes]
rs55973252	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66464034	0.98[EUR][1000 genomes]
rs6660291	1.00[ASN][1000 genomes]
rs6672493	1.00[ASN][1000 genomes]
rs66866430	1.00[EUR][1000 genomes]
rs6686809	1.00[CHB][hapmap]
rs72696807	1.00[ASN][1000 genomes]
rs72696808	1.00[ASN][1000 genomes]
rs72696824	1.00[ASN][1000 genomes]
rs72696828	1.00[ASN][1000 genomes]
rs72696841	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72696848	1.00[ASN][1000 genomes]
rs72696852	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72696855	1.00[AFR][1000 genomes]
rs72696859	1.00[ASN][1000 genomes]
rs72696873	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72696880	1.00[AFR][1000 genomes]
rs72696901	1.00[ASN][1000 genomes]
rs72698822	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72698842	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72698892	1.00[AFR][1000 genomes]
rs72700804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700806	0.97[EUR][1000 genomes]
rs72700810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72700813	1.00[AFR][1000 genomes]
rs72700822	1.00[ASN][1000 genomes]
rs7364905	1.00[ASN][1000 genomes]
rs7542068	1.00[CHB][hapmap]
rs7550234	1.00[ASN][1000 genomes]
rs7552883	1.00[CHB][hapmap]
rs9651184	1.00[CHB][hapmap]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12132918	MRPS21	cis	parietal	SCAN
rs12132918	LYSMD1	cis	lymphoblastoid	seeQTL
rs12132918	CTSS	cis	cerebellum	SCAN

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150489000-150505400	Weak transcription	Right Ventricle	heart
2	chr1:150489200-150498200	Weak transcription	Fetal Intestine Small	intestine
3	chr1:150489200-150501800	Weak transcription	Right Atrium	heart
4	chr1:150489400-150500200	Weak transcription	Osteobl	bone
5	chr1:150489400-150500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:150489600-150498400	Weak transcription	Fetal Stomach	stomach
7	chr1:150489600-150501600	Weak transcription	Brain Anterior Caudate	brain
8	chr1:150490600-150500400	Weak transcription	Stomach Mucosa	stomach
9	chr1:150494400-150500400	Weak transcription	HSMMtube	muscle
10	chr1:150495200-150501600	Weak transcription	Psoas Muscle	Psoas
11	chr1:150496800-150500400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links