Variant report

Variant	rs9562835
Chromosome Location	chr13:49222813-49222814
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs1009719	0.80[ASN][1000 genomes]
rs12050047	0.80[ASN][1000 genomes]
rs12583212	0.87[ASN][1000 genomes]
rs12583622	0.87[ASN][1000 genomes]
rs12585234	0.87[ASN][1000 genomes]
rs12864882	0.82[ASN][1000 genomes]
rs12867110	0.87[ASN][1000 genomes]
rs12867640	0.87[ASN][1000 genomes]
rs12870838	0.85[ASN][1000 genomes]
rs12870872	0.84[ASN][1000 genomes]
rs12871411	0.84[ASN][1000 genomes]
rs12871822	0.89[ASN][1000 genomes]
rs12874937	0.82[EUR][1000 genomes]
rs12876715	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1326697	0.84[ASN][1000 genomes]
rs1359107	0.92[ASN][1000 genomes]
rs1359108	0.81[EUR][1000 genomes]
rs1359109	0.81[EUR][1000 genomes]
rs1476406	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs1980838	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1980839	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2146861	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2148516	0.84[ASN][1000 genomes]
rs34119347	0.87[ASN][1000 genomes]
rs36088391	0.87[ASN][1000 genomes]
rs59136233	0.84[ASN][1000 genomes]
rs59927903	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6561474	0.82[EUR][1000 genomes]
rs7331325	0.87[ASN][1000 genomes]
rs7987608	0.94[ASN][1000 genomes]
rs7988330	0.87[ASN][1000 genomes]
rs7989251	0.94[ASN][1000 genomes]
rs7989287	0.81[EUR][1000 genomes]
rs9535055	0.80[ASN][1000 genomes]
rs9535056	0.80[ASN][1000 genomes]
rs9535058	0.82[ASN][1000 genomes]
rs9562836	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568057	0.80[ASN][1000 genomes]
rs9568060	0.80[ASN][1000 genomes]
rs9568063	0.80[ASN][1000 genomes]
rs9568066	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568067	0.84[ASN][1000 genomes]
rs9568068	0.84[ASN][1000 genomes]
rs9568070	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568071	0.84[ASN][1000 genomes]
rs9568072	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9568075	0.87[ASN][1000 genomes]
rs9568077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9595950	0.81[EUR][1000 genomes]
rs9634815	0.87[ASN][1000 genomes]
rs9634816	0.87[ASN][1000 genomes]
rs9634817	0.87[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	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
2	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
3	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
4	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
5	nsv832605	chr13:49171305-49344970	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9562835	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49221400-49226200	Weak transcription	Dnd41	blood
2	chr13:49221600-49223000	Enhancers	Adipose Nuclei	Adipose
3	chr13:49222000-49225200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr13:49222200-49223000	Enhancers	Fetal Stomach	stomach
5	chr13:49222200-49223200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr13:49222400-49223000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr13:49222400-49223400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr13:49222400-49224800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr13:49222400-49224800	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:49222600-49223000	Enhancers	Primary hematopoietic stem cells	blood
11	chr13:49222600-49223000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:49222600-49223000	Enhancers	HepG2	liver
13	chr13:49222600-49223200	Enhancers	HUVEC	blood vessel
14	chr13:49222600-49229400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr13:49222800-49227000	Weak transcription	Fetal Thymus	thymus

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