Variant report

Variant	esv16740
Chromosome Location	chr11:36661279-36661736
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	chr11:36524585..36526745-chr11:36660156..36661890,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1498340	chr11:36661281-36661282	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146640568	chr11:36661319-36661320	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs6416086	chr11:36661325-36661326	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs541314523	chr11:36661401-36661402	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs16926234	chr11:36661402-36661403	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs1498339	chr11:36661443-36661444	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543238531	chr11:36661445-36661446	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563160431	chr11:36661447-36661448	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149211657	chr11:36661506-36661507	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551589512	chr11:36661507-36661508	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs143027794	chr11:36661594-36661595	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112682388	chr11:36661596-36661597	Weak transcription Strong transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548094942	chr11:36661601-36661602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs375988065	chr11:36661612-36661613	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567989682	chr11:36661667-36661668	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536968877	chr11:36661668-36661669	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs541247402	chr11:36661688-36661689	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550362720	chr11:36661699-36661700	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs570162967	chr11:36661714-36661715	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs151131670	chr11:36661716-36661717	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs12271660	chr11:36661723-36661724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:53)

Disease	PMID	Source
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
Medulloblastoma	21979893	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
WAGR syndrome	19222835	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	21829676	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	20603712	CNVD
Autism	17322880	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21858162	CNVD
Cancer	20164920	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36630000-36678800	Weak transcription	Brain Angular Gyrus	brain
2	chr11:36630600-36682000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr11:36640800-36669400	Weak transcription	Aorta	Aorta
4	chr11:36641400-36669400	Weak transcription	Adipose Nuclei	Adipose
5	chr11:36641400-36669600	Weak transcription	Ovary	ovary
6	chr11:36641400-36681000	Weak transcription	Primary T cells from cord blood	blood
7	chr11:36642000-36681000	Weak transcription	Fetal Kidney	kidney
8	chr11:36642200-36669600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:36646400-36677000	Weak transcription	Lung	lung
10	chr11:36648600-36681400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:36648800-36680600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:36649400-36669400	Weak transcription	Fetal Muscle Leg	muscle
13	chr11:36650600-36687000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr11:36650800-36682600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr11:36651000-36670000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:36651000-36671400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:36651000-36684000	Weak transcription	HSMMtube	muscle
18	chr11:36653600-36663400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr11:36653600-36669800	Weak transcription	Liver	Liver
20	chr11:36653600-36680800	Weak transcription	Brain Anterior Caudate	brain
21	chr11:36653800-36669600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:36653800-36684400	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr11:36654800-36669600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr11:36656400-36680600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:36656800-36669400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr11:36656800-36677800	Weak transcription	Psoas Muscle	Psoas
27	chr11:36657600-36670400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:36658200-36671600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:36659800-36670000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr11:36660000-36661600	Enhancers	Colon Smooth Muscle	Colon
31	chr11:36660200-36661600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr11:36660400-36661400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr11:36660400-36661800	Strong transcription	Left Ventricle	heart
34	chr11:36660400-36670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:36660600-36661800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr11:36660800-36661800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr11:36660800-36670200	Weak transcription	Fetal Lung	lung
38	chr11:36660800-36685800	Weak transcription	Fetal Stomach	stomach
39	chr11:36661000-36661400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr11:36661000-36661400	Enhancers	Gastric	stomach
41	chr11:36661000-36661600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr11:36661200-36661400	Enhancers	Pancreas	Pancrea
43	chr11:36661200-36678600	Weak transcription	Fetal Thymus	thymus
44	chr11:36661400-36661600	Weak transcription	Pancreas	Pancrea
45	chr11:36661400-36661800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:36661400-36669400	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:36661400-36681200	Weak transcription	Gastric	stomach
48	chr11:36661600-36669400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr11:36661600-36671400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr11:36661600-36681200	Weak transcription	Colon Smooth Muscle	Colon

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