Variant report

Variant	esv2144591
Chromosome Location	chr9:14861095-14861493
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199634330	chr9:14861095-14861096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs200860608	chr9:14861096-14861097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560258867	chr9:14861104-14861105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527700340	chr9:14861108-14861109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533393049	chr9:14861109-14861110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550718740	chr9:14861116-14861117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201055114	chr9:14861126-14861127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536484018	chr9:14861128-14861129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368240805	chr9:14861129-14861130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561344357	chr9:14861143-14861144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567325549	chr9:14861144-14861145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190934417	chr9:14861151-14861152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550385462	chr9:14861152-14861153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs111206608	chr9:14861155-14861156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538914250	chr9:14861156-14861157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548088005	chr9:14861168-14861169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs180822581	chr9:14861173-14861174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533762457	chr9:14861176-14861177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554992520	chr9:14861177-14861178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573394416	chr9:14861198-14861199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201838872	chr9:14861199-14861200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186368749	chr9:14861204-14861205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549993474	chr9:14861205-14861206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190793703	chr9:14861208-14861209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182946423	chr9:14861228-14861229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs187243346	chr9:14861238-14861239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191438888	chr9:14861240-14861241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183219710	chr9:14861242-14861243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188229120	chr9:14861260-14861261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555893603	chr9:14861262-14861263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192460223	chr9:14861266-14861267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201794363	chr9:14861274-14861275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200458494	chr9:14861285-14861286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183704871	chr9:14861286-14861287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187954150	chr9:14861294-14861295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577789878	chr9:14861295-14861296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544940231	chr9:14861306-14861307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112863911	chr9:14861310-14861311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs192382800	chr9:14861323-14861324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572277177	chr9:14861324-14861325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10961758	chr9:14861326-14861327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113468786	chr9:14861327-14861328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76916876	chr9:14861346-14861347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs375593963	chr9:14861349-14861350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78530248	chr9:14861356-14861357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201540046	chr9:14861360-14861361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543039550	chr9:14861363-14861364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs10961759	chr9:14861369-14861370	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs112593046	chr9:14861379-14861380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545081720	chr9:14861383-14861384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14807400-14868600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr9:14843400-14868800	Weak transcription	Pancreas	Pancrea
3	chr9:14849600-14869000	Weak transcription	Small Intestine	intestine
4	chr9:14850200-14869000	Weak transcription	Fetal Brain Male	brain
5	chr9:14851600-14863800	Weak transcription	Colon Smooth Muscle	Colon
6	chr9:14853200-14868800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:14857800-14865200	Weak transcription	Fetal Stomach	stomach
8	chr9:14858200-14868600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:14859400-14863600	Weak transcription	Adipose Nuclei	Adipose
10	chr9:14859400-14863600	Weak transcription	Fetal Intestine Large	intestine
11	chr9:14859600-14865800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:14859600-14868800	Weak transcription	Aorta	Aorta
13	chr9:14859600-14869600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr9:14859600-14876600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr9:14859800-14864600	Weak transcription	Fetal Kidney	kidney
16	chr9:14860000-14883800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr9:14860200-14862000	Weak transcription	Fetal Lung	lung
18	chr9:14860400-14861800	Weak transcription	HepG2	liver
19	chr9:14860600-14861600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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