Variant report

Variant	rs7322987
Chromosome Location	chr13:48802754-48802755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48801755..48804565-chr13:48807877..48810629,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10219833	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12100135	0.86[EUR][1000 genomes]
rs12871740	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1886795	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243461	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2243626	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2248488	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2251813	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2254423	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3809328	0.86[EUR][1000 genomes]
rs4594153	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4600372	0.84[ASN][1000 genomes]
rs7337883	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7984554	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7984795	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7999447	0.89[ASN][1000 genomes]
rs8001315	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9526465	0.89[ASN][1000 genomes]
rs9534996	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9535002	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9535007	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9535011	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9568029	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv1043294	chr13:48762477-48810028	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7322987	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48796000-48806800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr13:48797200-48806200	Weak transcription	Ovary	ovary
3	chr13:48797400-48803600	Weak transcription	Fetal Intestine Large	intestine
4	chr13:48797400-48804400	Weak transcription	Fetal Intestine Small	intestine
5	chr13:48797400-48806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr13:48797800-48806200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:48799200-48804800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr13:48799200-48804800	Weak transcription	Fetal Kidney	kidney
9	chr13:48799400-48805600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr13:48799600-48804400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr13:48799600-48804800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr13:48799600-48805000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:48801400-48805000	Enhancers	HepG2	liver
14	chr13:48802000-48803000	Enhancers	K562	blood
15	chr13:48802600-48806200	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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