Variant report

Variant	rs7358982
Chromosome Location	chr13:48845318-48845319
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	chr13:48842870..48845790-chr13:48847077..48849095,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10219833	0.94[EUR][1000 genomes]
rs12100135	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12583516	0.85[ASN][1000 genomes]
rs12871662	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12871740	0.93[EUR][1000 genomes]
rs12875750	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1573601	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1886795	0.92[EUR][1000 genomes]
rs1925744	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1925745	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1981434	0.83[EUR][1000 genomes]
rs198634	0.92[ASN][1000 genomes]
rs2243461	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2243626	0.93[EUR][1000 genomes]
rs2248488	0.93[EUR][1000 genomes]
rs2251813	0.92[EUR][1000 genomes]
rs2253520	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2254423	0.92[EUR][1000 genomes]
rs2406933	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2854345	0.91[ASN][1000 genomes]
rs34217484	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3803188	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3809328	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3818455	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4151520	0.84[ASN][1000 genomes]
rs4594153	0.90[EUR][1000 genomes]
rs4600372	0.87[EUR][1000 genomes]
rs520342	0.92[ASN][1000 genomes]
rs61973349	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7984554	0.93[EUR][1000 genomes]
rs7984795	0.93[EUR][1000 genomes]
rs7999447	0.94[EUR][1000 genomes]
rs8001315	0.93[EUR][1000 genomes]
rs9316367	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9316369	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526465	0.85[EUR][1000 genomes]
rs9526466	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9526470	0.89[EUR][1000 genomes]
rs9534998	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535000	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535002	0.92[EUR][1000 genomes]
rs9535003	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9535006	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9535007	0.90[EUR][1000 genomes]
rs9535009	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9535011	0.94[EUR][1000 genomes]
rs9562815	0.82[ASN][1000 genomes]
rs9568025	0.88[ASN][1000 genomes]
rs9568026	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568027	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9568028	0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9568029	0.90[EUR][1000 genomes]
rs9568032	0.92[ASN][1000 genomes]
rs9568033	0.92[ASN][1000 genomes]
rs9568034	0.92[ASN][1000 genomes]
rs9568035	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7358982	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48828600-48845800	Weak transcription	Stomach Mucosa	stomach
2	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
3	chr13:48835800-48849400	Weak transcription	NHLF	lung
4	chr13:48837800-48848000	Weak transcription	A549	lung
5	chr13:48837800-48848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr13:48837800-48848600	Weak transcription	Fetal Brain Female	brain
7	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
9	chr13:48838000-48845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:48838000-48845600	Weak transcription	HMEC	breast
11	chr13:48838000-48847000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr13:48838000-48847800	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr13:48838000-48847800	Weak transcription	Psoas Muscle	Psoas
14	chr13:48838000-48849600	Weak transcription	Right Ventricle	heart
15	chr13:48838000-48850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr13:48838000-48850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
18	chr13:48838200-48845400	Weak transcription	Fetal Intestine Large	intestine
19	chr13:48838200-48849600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr13:48838400-48846600	Weak transcription	NHDF-Ad	bronchial
21	chr13:48838400-48847000	Weak transcription	Brain Substantia Nigra	brain
22	chr13:48839200-48846200	Weak transcription	Brain Hippocampus Middle	brain
23	chr13:48839800-48845600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:48839800-48845600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr13:48839800-48848600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr13:48840000-48851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:48840200-48846600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr13:48841800-48846200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr13:48841800-48852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr13:48843800-48846000	Weak transcription	Colonic Mucosa	Colon
33	chr13:48843800-48846000	Weak transcription	Gastric	stomach
34	chr13:48843800-48846000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr13:48843800-48847000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr13:48843800-48849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr13:48843800-48850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr13:48844000-48845800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr13:48844000-48845800	Weak transcription	Liver	Liver
40	chr13:48844000-48846400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr13:48844000-48847600	Weak transcription	Fetal Kidney	kidney
42	chr13:48844000-48849800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr13:48844000-48850600	Weak transcription	Primary hematopoietic stem cells	blood
44	chr13:48844200-48845800	Weak transcription	Small Intestine	intestine
45	chr13:48844200-48846000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr13:48844200-48846200	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr13:48844200-48847800	Weak transcription	Brain Angular Gyrus	brain
48	chr13:48844200-48848400	Weak transcription	Fetal Lung	lung
49	chr13:48844200-48850000	Weak transcription	HSMM	muscle
50	chr13:48844200-48850600	Weak transcription	Fetal Muscle Trunk	muscle

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