Variant report

Variant	esv32924
Chromosome Location	chr11:36336072-36336295
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562447442	chr11:36336126-36336127	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544311024	chr11:36336197-36336198	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531470125	chr11:36336217-36336218	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551206213	chr11:36336254-36336255	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142877705	chr11:36336262-36336263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2218565	chr11:36336263-36336264	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Thyroid cancer	19087340	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Parathyroid adenoma	22454399	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Aniridia syndrome	21572526	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Retinoblastoma	22278416	CNVD
Denys-drash syndrome	21085971	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
WAGR syndrome	16773131	CNVD
Disorders of sex development	22290220	CNVD
Aniridia syndrome	17204608	CNVD
Mental retardation	17204608	CNVD
WAGR syndrome	19617690	CNVD
genitourinary abnormalities	17204608	CNVD
Breast cancer	16397240	CNVD
Mental retardation	16773131	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Cancer	21183584	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
WAGR syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Denys-drash syndrome	19566914	CNVD
Familial wilms tumor	19566914	CNVD
Frasier syndrome	19566914	CNVD
Non-small cell lung cancer	21829676	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36332000-36338600	Weak transcription	Gastric	stomach
2	chr11:36332800-36336400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr11:36333600-36336400	Enhancers	Fetal Intestine Large	intestine
4	chr11:36333800-36336200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:36333800-36336200	Enhancers	HSMMtube	muscle
6	chr11:36333800-36336400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:36333800-36336800	Enhancers	Fetal Intestine Small	intestine
8	chr11:36333800-36337200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr11:36334000-36336600	Enhancers	Ovary	ovary
10	chr11:36334200-36339800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr11:36334800-36336200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr11:36335000-36336200	Enhancers	Fetal Kidney	kidney
13	chr11:36335000-36337200	Enhancers	Brain Substantia Nigra	brain
14	chr11:36335000-36338000	Enhancers	Adipose Nuclei	Adipose
15	chr11:36335200-36336200	Enhancers	Brain Angular Gyrus	brain
16	chr11:36335200-36336200	Enhancers	Rectal Mucosa Donor 29	rectum
17	chr11:36335200-36339600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr11:36335400-36336200	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr11:36335400-36336200	Enhancers	Pancreas	Pancrea
20	chr11:36335400-36340200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:36335600-36339200	Weak transcription	Colonic Mucosa	Colon
22	chr11:36335800-36336200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:36335800-36336200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:36335800-36337000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr11:36336000-36336200	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr11:36336000-36337800	Enhancers	Brain Hippocampus Middle	brain
27	chr11:36336200-36336600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:36336200-36337400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:36336200-36340000	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr11:36336200-36340200	Weak transcription	Brain Angular Gyrus	brain

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