Variant report

Variant	rs3751058
Chromosome Location	chr11:9051406-9051407
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1025438	0.87[GIH][hapmap]
rs10743097	0.90[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1110216	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12794962	0.84[CHD][hapmap]
rs1960179	0.96[ASN][1000 genomes]
rs1960180	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2056902	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2568047	0.84[CHD][hapmap]
rs3794150	0.82[ASW][hapmap];0.89[CEU][hapmap];0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3829273	0.80[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.96[ASN][1000 genomes]
rs4370967	0.84[CHD][hapmap]
rs66630602	0.87[ASN][1000 genomes]
rs72856020	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856021	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856025	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856027	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72856029	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856037	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856040	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72856076	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72856081	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]

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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3751058	TMEM9B	cis	cerebellum	SCAN
rs3751058	CYB5R2	cis	parietal	SCAN
rs3751058	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9035200-9051800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:9038200-9064000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr11:9039000-9052000	Weak transcription	Spleen	Spleen
4	chr11:9039000-9058800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:9039600-9052000	Weak transcription	Lung	lung
6	chr11:9039600-9057800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr11:9041800-9052400	Weak transcription	Gastric	stomach
8	chr11:9043400-9059200	Weak transcription	Right Atrium	heart
9	chr11:9043800-9051800	Weak transcription	Left Ventricle	heart
10	chr11:9043800-9052400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:9045800-9052000	Weak transcription	Fetal Intestine Small	intestine
12	chr11:9047200-9068600	Weak transcription	Fetal Intestine Large	intestine
13	chr11:9047400-9052200	Weak transcription	Adipose Nuclei	Adipose
14	chr11:9047800-9058400	Weak transcription	HSMMtube	muscle
15	chr11:9049000-9052000	Weak transcription	Pancreas	Pancrea
16	chr11:9049000-9056600	Weak transcription	Fetal Lung	lung
17	chr11:9050200-9052400	Weak transcription	Esophagus	oesophagus
18	chr11:9050200-9052800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr11:9050400-9052800	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:9051000-9051600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:9051000-9052000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr11:9051200-9051600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:9051200-9052200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:9051200-9052600	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:9051200-9053000	Strong transcription	Fetal Stomach	stomach
26	chr11:9051200-9054000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr11:9051400-9059000	Weak transcription	Placenta	Placenta

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