Variant report

Variant	rs11042154
Chromosome Location	chr11:9029700-9029701
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:9029459-9030697	PBDE	blood:	n/a	chr11:9029786-9029793 chr11:9029786-9029793 chr11:9030369-9030390 chr11:9029786-9029793 chr11:9029784-9029793 chr11:9030377-9030394 chr11:9030375-9030385 chr11:9030376-9030385 chr11:9030372-9030388 chr11:9029779-9029800 chr11:9029784-9029794 chr11:9030376-9030383 chr11:9029781-9029797

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9029342..9032817-chr11:9034823..9038616,4	K562	blood:

Variant related genes	Relation type
NRIP3	TF binding region

Extended variants
information (count: 71 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs10743093	0.92[CEU][hapmap];0.81[JPT][hapmap]
rs10743095	0.80[EUR][1000 genomes]
rs10769967	0.93[CEU][hapmap]
rs10769970	0.93[CEU][hapmap];0.81[JPT][hapmap]
rs10769971	0.81[JPT][hapmap]
rs10769973	0.93[CEU][hapmap];0.81[JPT][hapmap]
rs10769978	0.81[EUR][1000 genomes]
rs10769979	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769980	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10769981	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10840130	0.84[CEU][hapmap]
rs10840134	0.92[CEU][hapmap]
rs10840141	0.93[CEU][hapmap];0.81[JPT][hapmap]
rs10840142	0.93[CEU][hapmap];0.81[JPT][hapmap]
rs10840147	0.89[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs10840148	0.93[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap]
rs10840157	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840158	0.89[ASN][1000 genomes]
rs10840160	0.83[CHB][hapmap];0.85[CHD][hapmap];0.81[MEX][hapmap];0.92[TSI][hapmap]
rs11042103	0.93[CEU][hapmap];0.80[JPT][hapmap]
rs11042125	0.81[CEU][hapmap];0.85[JPT][hapmap];0.95[MEX][hapmap]
rs11042149	0.89[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs11042151	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs11042152	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1109305	0.85[EUR][1000 genomes]
rs1123936	0.93[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs11603841	0.88[CEU][hapmap]
rs1529641	0.91[CEU][hapmap]
rs1560569	1.00[CEU][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs1980428	0.93[CEU][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap]
rs1980429	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1984791	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[ASN][1000 genomes]
rs2012680	0.87[ASN][1000 genomes]
rs2012690	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2012696	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2016942	1.00[CEU][hapmap];0.85[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.81[EUR][1000 genomes]
rs2568020	0.89[ASN][1000 genomes]
rs2568043	0.92[CEU][hapmap]
rs2568045	0.93[CEU][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs2568061	0.93[CEU][hapmap];0.87[MEX][hapmap]
rs2568065	0.93[CEU][hapmap];0.87[MEX][hapmap]
rs2568090	0.93[CEU][hapmap]
rs2653570	0.89[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.88[TSI][hapmap];0.89[ASN][1000 genomes]
rs2653605	0.93[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.85[TSI][hapmap];0.89[ASN][1000 genomes]
rs2742471	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2742474	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2742480	0.92[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2742537	0.83[CEU][hapmap]
rs2742540	0.85[CEU][hapmap]
rs2742545	0.85[CEU][hapmap]
rs2742552	0.85[CEU][hapmap];0.83[MEX][hapmap]
rs4909952	1.00[CEU][hapmap];0.84[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4910062	0.92[CEU][hapmap]
rs4910156	0.80[EUR][1000 genomes]
rs4910200	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4910442	0.91[CEU][hapmap];0.91[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4929922	0.85[CEU][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.86[MEX][hapmap];0.82[AMR][1000 genomes]
rs6486060	0.92[CEU][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes]
rs7119939	0.92[CEU][hapmap]
rs7123429	0.93[CEU][hapmap]
rs7479407	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7482838	0.90[ASN][1000 genomes]
rs7484180	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7925728	1.00[CEU][hapmap];0.83[CHB][hapmap];0.93[CHD][hapmap];0.94[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7930026	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7937298	0.93[CEU][hapmap]
rs7945705	0.93[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv896985	chr11:9013002-9152463	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11042154	RPL27A	cis	parietal	SCAN
rs11042154	OR52A1	cis	parietal	SCAN
rs11042154	TMEM9B-AS1	cis	lung	GTEx
rs11042154	C11orf17	cis	multi-tissue	Pritchard
rs11042154	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs11042154	TMEM9B	cis	parietal	SCAN
rs11042154	WEE1	cis	parietal	SCAN
rs11042154	RRP8	cis	parietal	SCAN
rs11042154	AKIP1	cis	Thyroid	GTEx
rs11042154	NRIP3	cis	parietal	SCAN
rs11042154	ST5	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9026200-9034800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:9026200-9038800	Weak transcription	Right Atrium	heart
3	chr11:9026400-9037400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:9029600-9029800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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