Variant report

Variant	esv3483970
Chromosome Location	chr9:15944147-15948125
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 221 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:221 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146848730	chr9:15944156-15944157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs545022848	chr9:15944190-15944191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560080820	chr9:15944207-15944208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572414361	chr9:15944210-15944211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs544411126	chr9:15944224-15944225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368048753	chr9:15944228-15944229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542904235	chr9:15944236-15944237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113531231	chr9:15944245-15944246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs200628487	chr9:15944260-15944261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550686181	chr9:15944277-15944278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562547241	chr9:15944281-15944282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs145918667	chr9:15944291-15944292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551414493	chr9:15944303-15944304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116115393	chr9:15944320-15944321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10962227	chr9:15944352-15944353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs80095254	chr9:15944388-15944389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs13297383	chr9:15944400-15944401	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537619962	chr9:15944401-15944402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373226088	chr9:15944406-15944407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2987072	chr9:15944448-15944449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs369457744	chr9:15944513-15944514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs76971907	chr9:15944574-15944575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs538706713	chr9:15944575-15944576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs143228553	chr9:15944603-15944604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572347959	chr9:15944621-15944622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558149336	chr9:15944638-15944639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552955569	chr9:15944645-15944646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543346851	chr9:15944677-15944678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554949459	chr9:15944687-15944688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538397731	chr9:15944701-15944702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576603917	chr9:15944702-15944703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531944668	chr9:15944720-15944721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201002661	chr9:15944733-15944734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374096964	chr9:15944822-15944823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201600943	chr9:15944824-15944825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs199927441	chr9:15944828-15944829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201617800	chr9:15944832-15944833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200751108	chr9:15944833-15944834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57665767	chr9:15944834-15944835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143216413	chr9:15944835-15944836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200442166	chr9:15944838-15944839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555120124	chr9:15944881-15944882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377539258	chr9:15944889-15944890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565447352	chr9:15944902-15944903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs533071169	chr9:15944916-15944917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201278731	chr9:15944927-15944928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545079652	chr9:15944942-15944943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148289547	chr9:15944957-15944958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187214333	chr9:15945022-15945023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549284647	chr9:15945028-15945029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Ovarian cancer	19835627	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15933200-15951400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:15936800-15946800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr9:15943800-15954800	Weak transcription	Fetal Lung	lung
4	chr9:15946800-15947800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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