Variant report

Variant	rs7333360
Chromosome Location	chr13:49133433-49133434
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11148110	0.83[EUR][1000 genomes]
rs12877954	0.84[EUR][1000 genomes]
rs1359688	0.89[EUR][1000 genomes]
rs1536396	0.83[EUR][1000 genomes]
rs1536397	0.84[EUR][1000 genomes]
rs1951775	0.80[EUR][1000 genomes]
rs2104532	0.84[EUR][1000 genomes]
rs2406935	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2407093	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2407095	0.84[EUR][1000 genomes]
rs2897588	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4635233	0.84[EUR][1000 genomes]
rs7139578	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7329065	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7332322	0.80[EUR][1000 genomes]
rs7336379	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8002098	0.84[EUR][1000 genomes]
rs9316382	0.88[EUR][1000 genomes]
rs9316388	0.82[EUR][1000 genomes]
rs9316393	0.82[EUR][1000 genomes]
rs9316394	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9316395	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9316399	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs943278	0.88[EUR][1000 genomes]
rs943280	0.87[EUR][1000 genomes]
rs943283	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9526479	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9526481	0.84[EUR][1000 genomes]
rs9526483	0.83[EUR][1000 genomes]
rs9535032	0.81[EUR][1000 genomes]
rs9535033	0.80[EUR][1000 genomes]
rs9535035	0.88[EUR][1000 genomes]
rs9535038	0.84[EUR][1000 genomes]
rs9535042	0.83[EUR][1000 genomes]
rs9535043	0.81[EUR][1000 genomes]
rs9535045	0.84[EUR][1000 genomes]
rs9535046	0.84[EUR][1000 genomes]
rs9568043	0.87[EUR][1000 genomes]
rs9568047	0.84[EUR][1000 genomes]
rs9568049	0.84[EUR][1000 genomes]
rs9568050	0.84[EUR][1000 genomes]
rs9634680	0.84[EUR][1000 genomes]
rs990814	0.87[EUR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7333360	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49130600-49133800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:49131400-49134000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:49132200-49135000	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr13:49132200-49135000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr13:49132400-49133600	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr13:49133200-49134000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr13:49133200-49134800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr13:49133400-49135600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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