Variant report

Variant	rs11042106
Chromosome Location	chr11:8896083-8896084
allele	C/T
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	MEF2A	chr11:8895586-8896089	GM12878	blood:	n/a	chr11:8895965-8895986 chr11:8895921-8895935 chr11:8895968-8895979

Variant related genes	Relation type
ST5	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10279	0.91[JPT][hapmap];0.80[EUR][1000 genomes]
rs10840135	0.85[MEX][hapmap];0.81[MKK][hapmap];0.95[YRI][hapmap]
rs10840139	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042104	0.89[LWK][hapmap];0.85[MEX][hapmap];0.80[MKK][hapmap];0.90[YRI][hapmap]
rs11042105	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11042107	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042108	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042114	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042115	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042116	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11042118	1.00[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042127	0.85[CEU][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11042133	0.86[EUR][1000 genomes]
rs11042148	0.84[MEX][hapmap];0.80[TSI][hapmap]
rs1109304	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12049908	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12223690	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs12418190	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1529641	0.83[JPT][hapmap]
rs16906256	0.85[MEX][hapmap];0.89[MKK][hapmap];0.95[YRI][hapmap]
rs2163626	0.81[CEU][hapmap];0.84[EUR][1000 genomes]
rs2455601	0.92[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.98[ASN][1000 genomes]
rs2653559	0.93[GIH][hapmap]
rs3751064	0.86[CEU][hapmap];0.85[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3763913	0.85[ASW][hapmap];0.86[CEU][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3763914	0.90[ASW][hapmap];0.86[CEU][hapmap];0.85[JPT][hapmap];0.94[MEX][hapmap];0.80[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3815991	0.84[MEX][hapmap]
rs56336128	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs56680262	0.87[EUR][1000 genomes]
rs7104661	0.92[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs72632952	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	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

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs11042106	MMP26	cis	cerebellum	SCAN
rs11042106	TMEM9B-AS1	cis	Artery Tibial	GTEx
rs11042106	TMEM9B-AS1	cis	Thyroid	GTEx
rs11042106	TMEM9B-AS1	cis	Skin Sun Exposed Lower leg	GTEx
rs11042106	TMEM9B-AS1	cis	Esophagus Mucosa	GTEx
rs11042106	TMEM9B-AS1	cis	Esophagus Muscularis	GTEx
rs11042106	TMEM9B-AS1	cis	Heart Left Ventricle	GTEx
rs11042106	TMEM9B-AS1	cis	Adipose Subcutaneous	GTEx
rs11042106	TMEM9B-AS1	cis	Muscle Skeletal	GTEx
rs11042106	TMEM9B-AS1	cis	lung	GTEx
rs11042106	TMEM9B-AS1	cis	Stomach	GTEx
rs11042106	DNHD1	cis	cerebellum	SCAN
rs11042106	NRIP3	cis	parietal	SCAN
rs11042106	ZNF143	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8892800-8906600	Weak transcription	Spleen	Spleen
2	chr11:8893400-8896600	Enhancers	Fetal Stomach	stomach
3	chr11:8893800-8896200	Enhancers	NHDF-Ad	bronchial
4	chr11:8894000-8903400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr11:8895200-8896200	Bivalent Enhancer	Primary T cells from cord blood	blood
6	chr11:8895200-8896400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:8895200-8896400	Enhancers	Rectal Smooth Muscle	rectum
8	chr11:8895200-8896600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:8895400-8896200	Enhancers	Fetal Heart	heart
10	chr11:8895400-8896200	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:8895400-8896200	Enhancers	NHLF	lung
12	chr11:8895400-8896400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr11:8895400-8896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:8895400-8896600	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:8895400-8896600	Enhancers	Colon Smooth Muscle	Colon
16	chr11:8895600-8896200	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr11:8895600-8896600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr11:8895800-8896200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:8896000-8896400	Enhancers	Fetal Lung	lung

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