Variant report

Variant	esv3385966
Chromosome Location	chr11:36325688-36326104
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	chr11:36319061..36322401-chr11:36325495..36327520,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533648627	chr11:36325710-36325711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs539131503	chr11:36325713-36325714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372188889	chr11:36325747-36325748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12294763	chr11:36325764-36325765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540063771	chr11:36325771-36325772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371204367	chr11:36325807-36325808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144616658	chr11:36325820-36325821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541602071	chr11:36325843-36325844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs558279240	chr11:36325933-36325934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554983720	chr11:36325943-36325944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs148468904	chr11:36325964-36325965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543061684	chr11:36325977-36325978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563288114	chr11:36325987-36325988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs377718121	chr11:36325993-36325994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532125543	chr11:36326096-36326097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs190066671	chr11:36326101-36326102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:36311600-36325800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr11:36319200-36331800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr11:36322600-36325800	Weak transcription	Fetal Intestine Large	intestine
5	chr11:36322800-36331400	Weak transcription	Gastric	stomach
6	chr11:36323000-36331400	Weak transcription	Lung	lung
7	chr11:36323000-36331400	Weak transcription	Pancreas	Pancrea
8	chr11:36323000-36331400	Weak transcription	Spleen	Spleen
9	chr11:36323000-36333800	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr11:36323000-36334000	Weak transcription	Ovary	ovary
11	chr11:36323000-36334200	Weak transcription	Brain Anterior Caudate	brain
12	chr11:36323000-36335200	Weak transcription	Colonic Mucosa	Colon
13	chr11:36323400-36326200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr11:36323400-36326400	Enhancers	Adipose Nuclei	Adipose
15	chr11:36323800-36331400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:36324000-36333800	Weak transcription	Brain Angular Gyrus	brain
17	chr11:36324800-36326000	Enhancers	Brain Hippocampus Middle	brain
18	chr11:36325400-36326200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:36325400-36326400	Enhancers	HSMMtube	muscle
20	chr11:36325400-36326600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr11:36325400-36326600	Enhancers	Brain Substantia Nigra	brain
22	chr11:36325400-36326600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr11:36325600-36326600	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:36325800-36326400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr11:36325800-36326400	Enhancers	Fetal Intestine Large	intestine
26	chr11:36325800-36326400	Enhancers	Fetal Intestine Small	intestine
27	chr11:36325800-36326600	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr11:36326000-36326400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:36326000-36331200	Weak transcription	Brain Hippocampus Middle	brain

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