Variant report

Variant	rs9535002
Chromosome Location	chr13:48846614-48846615
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:48605353..48607010-chr13:48845473..48847893,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10219833	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12100135	0.93[EUR][1000 genomes]
rs12430215	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12871662	0.84[EUR][1000 genomes]
rs12871740	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12875750	0.86[EUR][1000 genomes]
rs1573601	0.84[EUR][1000 genomes]
rs1886795	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1925744	0.86[EUR][1000 genomes]
rs1925745	0.86[EUR][1000 genomes]
rs1981434	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1981435	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs198619	0.82[EUR][1000 genomes]
rs2243461	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2243626	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2248488	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2251813	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2253520	0.92[EUR][1000 genomes]
rs2254423	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2406933	0.92[EUR][1000 genomes]
rs34217484	0.92[EUR][1000 genomes]
rs3803188	0.88[EUR][1000 genomes]
rs3809328	0.93[EUR][1000 genomes]
rs3818455	0.86[EUR][1000 genomes]
rs399413	0.81[EUR][1000 genomes]
rs4151450	0.84[EUR][1000 genomes]
rs4594153	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4600372	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61973349	0.84[EUR][1000 genomes]
rs7322987	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7358982	0.92[EUR][1000 genomes]
rs7984554	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7984795	0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7999447	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8001315	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9316367	0.86[EUR][1000 genomes]
rs9316369	0.86[EUR][1000 genomes]
rs9526465	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9526466	0.86[EUR][1000 genomes]
rs9526470	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9526475	0.81[EUR][1000 genomes]
rs9534996	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9534998	0.86[EUR][1000 genomes]
rs9535000	0.86[EUR][1000 genomes]
rs9535003	0.86[EUR][1000 genomes]
rs9535006	0.86[EUR][1000 genomes]
rs9535007	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535009	0.84[EUR][1000 genomes]
rs9535011	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9535015	0.81[EUR][1000 genomes]
rs9535016	0.83[EUR][1000 genomes]
rs9535018	0.80[EUR][1000 genomes]
rs9568026	0.89[EUR][1000 genomes]
rs9568027	0.84[EUR][1000 genomes]
rs9568028	0.84[EUR][1000 genomes]
rs9568029	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568031	0.82[EUR][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	esv3447831	chr13:48846555-48847023	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9535002	ITM2B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48833800-48851600	Weak transcription	Fetal Heart	heart
2	chr13:48835800-48849400	Weak transcription	NHLF	lung
3	chr13:48837800-48848000	Weak transcription	A549	lung
4	chr13:48837800-48848600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr13:48837800-48848600	Weak transcription	Fetal Brain Female	brain
6	chr13:48837800-48853000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr13:48837800-48856400	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:48838000-48847000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:48838000-48847800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:48838000-48847800	Weak transcription	Psoas Muscle	Psoas
11	chr13:48838000-48849600	Weak transcription	Right Ventricle	heart
12	chr13:48838000-48850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr13:48838000-48850000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:48838000-48852800	Weak transcription	HUVEC	blood vessel
15	chr13:48838200-48849600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:48838400-48847000	Weak transcription	Brain Substantia Nigra	brain
17	chr13:48839800-48848600	Weak transcription	Rectal Smooth Muscle	rectum
18	chr13:48839800-48850200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr13:48840000-48851600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr13:48841800-48852000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr13:48841800-48853200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr13:48843800-48847000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr13:48843800-48849800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr13:48843800-48850400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48844000-48847600	Weak transcription	Fetal Kidney	kidney
26	chr13:48844000-48849800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:48844000-48850600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr13:48844200-48847800	Weak transcription	Brain Angular Gyrus	brain
29	chr13:48844200-48848400	Weak transcription	Fetal Lung	lung
30	chr13:48844200-48850000	Weak transcription	HSMM	muscle
31	chr13:48844200-48850600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr13:48844200-48853000	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr13:48844400-48846800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:48844400-48846800	Weak transcription	Spleen	Spleen
35	chr13:48844400-48847000	Weak transcription	Thymus	Thymus
36	chr13:48844400-48847200	Weak transcription	Adipose Nuclei	Adipose
37	chr13:48844400-48847200	Weak transcription	Lung	lung
38	chr13:48844400-48849600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr13:48844400-48849800	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr13:48844400-48849800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr13:48844400-48850000	Weak transcription	Left Ventricle	heart
42	chr13:48844400-48850200	Weak transcription	Fetal Stomach	stomach
43	chr13:48844400-48850200	Weak transcription	Ovary	ovary
44	chr13:48844400-48851400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr13:48844400-48851600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr13:48844400-48853000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr13:48844400-48853000	Weak transcription	Brain Anterior Caudate	brain
48	chr13:48844400-48853000	Weak transcription	Fetal Muscle Leg	muscle
49	chr13:48844400-48857600	Weak transcription	HSMMtube	muscle
50	chr13:48844400-48877200	Weak transcription	Aorta	Aorta

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