Variant report

Variant	rs7337883
Chromosome Location	chr13:48797661-48797662
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	chr13:48796669..48798523-chr13:48852161..48854469,2	K562	blood:
2	chr13:48791747..48798562-chr13:48804762..48808839,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136156	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12100135	0.80[EUR][1000 genomes]
rs3809328	0.80[EUR][1000 genomes]
rs7322987	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7984554	0.80[AMR][1000 genomes]
rs9534996	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	esv3327569	chr13:48743550-48798094	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	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
rs7337883	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 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	chr13:48796800-48798200	Weak transcription	Lung	lung
3	chr13:48797000-48798000	Enhancers	Primary T cells from cord blood	blood
4	chr13:48797000-48798800	Weak transcription	Fetal Kidney	kidney
5	chr13:48797200-48797800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr13:48797200-48797800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:48797200-48798000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr13:48797200-48798400	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr13:48797200-48798600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr13:48797200-48801800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr13:48797200-48806200	Weak transcription	Ovary	ovary
12	chr13:48797400-48798000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:48797400-48798400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr13:48797400-48798400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr13:48797400-48798400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr13:48797400-48798400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr13:48797400-48798400	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr13:48797400-48798600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr13:48797400-48798600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr13:48797400-48798600	Weak transcription	HepG2	liver
21	chr13:48797400-48799200	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr13:48797400-48799600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr13:48797400-48803600	Weak transcription	Fetal Intestine Large	intestine
24	chr13:48797400-48804400	Weak transcription	Fetal Intestine Small	intestine
25	chr13:48797400-48806200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:48797600-48797800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr13:48797600-48798600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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