Variant report

Variant	rs9562811
Chromosome Location	chr13:48760557-48760558
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48759722..48761535-chr13:48765446..48768314,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs12100135	0.81[CHB][hapmap]
rs12870184	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12875750	0.82[CHB][hapmap]
rs12875956	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573601	0.81[CHB][hapmap]
rs2010173	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809328	0.81[CHB][hapmap]
rs520342	0.81[CHB][hapmap]
rs6561441	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6561443	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7320402	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7333467	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9316369	0.82[CHB][hapmap]
rs9526462	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534971	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9534973	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534974	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534976	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534980	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534982	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534987	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9534998	0.81[CHB][hapmap]
rs9535006	0.81[CHB][hapmap]
rs9535009	0.81[CHB][hapmap]
rs9562809	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9568024	0.81[ASN][1000 genomes]
rs9568035	0.88[CHB][hapmap]
rs9634814	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9562811	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48755200-48762800	Enhancers	Primary B cells from cord blood	blood
2	chr13:48755800-48763000	Enhancers	Primary B cells from peripheral blood	blood
3	chr13:48756800-48760800	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr13:48757400-48763200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr13:48758000-48763000	Enhancers	Fetal Thymus	thymus
6	chr13:48758000-48763200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:48758000-48763400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:48758200-48762600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr13:48759200-48763200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr13:48759400-48763200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr13:48759600-48761400	Enhancers	Thymus	Thymus
12	chr13:48760000-48760600	Active TSS	Primary T cells from cord blood	blood
13	chr13:48760000-48760800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr13:48760000-48761000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr13:48760000-48761200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr13:48760000-48761600	Bivalent Enhancer	GM12878-XiMat	blood
17	chr13:48760200-48760800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:48760200-48761000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
19	chr13:48760200-48761000	Flanking Active TSS	Dnd41	blood
20	chr13:48760200-48761600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:48760400-48760600	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr13:48760400-48760600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
23	chr13:48760400-48760600	Enhancers	Small Intestine	intestine
24	chr13:48760400-48760800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:48760400-48760800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr13:48760400-48760800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr13:48760400-48760800	Active TSS	Primary T cells fromperipheralblood	blood
28	chr13:48760400-48760800	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr13:48760400-48760800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:48760400-48760800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr13:48760400-48761000	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr13:48760400-48761000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr13:48760400-48761800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr13:48760400-48762200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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