Variant report

Variant	esv3440153
Chromosome Location	chr2:33732548-33732809
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:33729626..33732550-chr2:33733058..33735608,2	K562	blood:
2	chr2:33732568..33734531-chr2:33737995..33739740,2	K562	blood:

Variant related genes	Relation type
ENSG00000152689	chromatin interactions

Extended variants
information (count: 17 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs143516381	chr2:33732572-33732573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530670466	chr2:33732602-33732603	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs550703237	chr2:33732636-33732637	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs115727911	chr2:33732638-33732639	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs116206275	chr2:33732640-33732641	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs183361419	chr2:33732652-33732653	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs13426535	chr2:33732662-33732663	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs535728866	chr2:33732680-33732681	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs563600503	chr2:33732696-33732697	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568114564	chr2:33732703-33732704	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537009838	chr2:33732747-33732748	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs187600754	chr2:33732751-33732752	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577242352	chr2:33732767-33732768	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539675655	chr2:33732781-33732782	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs553517260	chr2:33732782-33732783	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs573499995	chr2:33732785-33732786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs146749088	chr2:33732808-33732809	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Neurocytoma	17123091	CNVD
Autism	22495309	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:33710400-33775400	Weak transcription	Pancreas	Pancrea
2	chr2:33712200-33747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:33727000-33737000	Weak transcription	Primary B cells from cord blood	blood
4	chr2:33727800-33733600	Enhancers	Brain Hippocampus Middle	brain
5	chr2:33728400-33732600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:33728800-33734200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:33728800-33750800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:33729000-33737400	Enhancers	Brain Substantia Nigra	brain
9	chr2:33729200-33736200	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:33729600-33732600	Enhancers	Brain Anterior Caudate	brain
11	chr2:33729800-33740200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:33730000-33735400	Weak transcription	Right Ventricle	heart
13	chr2:33730000-33751600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:33730200-33734000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:33730200-33735400	Weak transcription	Psoas Muscle	Psoas
16	chr2:33731400-33740200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr2:33731600-33733200	Weak transcription	Fetal Heart	heart
18	chr2:33731800-33732600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:33731800-33733000	Weak transcription	GM12878-XiMat	blood
20	chr2:33731800-33733800	Enhancers	Brain Angular Gyrus	brain
21	chr2:33732000-33735000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:33732200-33734400	Enhancers	Left Ventricle	heart
23	chr2:33732400-33732600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:33732600-33733400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:33732600-33735400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:33732600-33735600	Weak transcription	Brain Anterior Caudate	brain
27	chr2:33732600-33745800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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