Variant report

Variant	esv3359937
Chromosome Location	chr9:15814577-15819250
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 226 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:226 , 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	rs536571936	chr9:15814580-15814581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554856196	chr9:15814591-15814592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576194300	chr9:15814608-15814609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543290804	chr9:15814625-15814626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs201251813	chr9:15814631-15814632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs116092532	chr9:15814651-15814652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562604519	chr9:15814653-15814654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541499237	chr9:15814657-15814658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs386733042	chr9:15814752-15814753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141945201	chr9:15814754-15814755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7470881	chr9:15814756-15814757	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150243762	chr9:15814792-15814793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138972342	chr9:15814803-15814804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs193111292	chr9:15814820-15814821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184529443	chr9:15814828-15814829	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73644948	chr9:15814835-15814836	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs189123757	chr9:15814854-15814855	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7048479	chr9:15814876-15814877	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565681746	chr9:15814893-15814894	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs181536373	chr9:15814913-15814914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs554593996	chr9:15814920-15814921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530430139	chr9:15814931-15814932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74536031	chr9:15814943-15814944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547020954	chr9:15814960-15814961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537330926	chr9:15814991-15814992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567151899	chr9:15815008-15815009	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558506160	chr9:15815027-15815028	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs9406536	chr9:15815030-15815031	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs144693148	chr9:15815034-15815035	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184117631	chr9:15815048-15815049	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574503152	chr9:15815083-15815084	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118146486	chr9:15815098-15815099	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs189477608	chr9:15815132-15815133	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575879828	chr9:15815146-15815147	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546440683	chr9:15815159-15815160	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368444629	chr9:15815174-15815175	Active TSS Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs58603418	chr9:15815207-15815208	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs181172049	chr9:15815210-15815211	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572006804	chr9:15815223-15815224	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372826593	chr9:15815224-15815225	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377031267	chr9:15815228-15815229	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9406537	chr9:15815246-15815247	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs76098566	chr9:15815258-15815259	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536963116	chr9:15815270-15815271	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112387261	chr9:15815274-15815275	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186015142	chr9:15815348-15815349	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs115022008	chr9:15815350-15815351	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143801960	chr9:15815374-15815375	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59112774	chr9:15815418-15815419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533012294	chr9:15815419-15815420	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15811200-15815000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:15811200-15816000	Weak transcription	Pancreas	Pancrea
3	chr9:15814800-15815400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:15814800-15831200	Weak transcription	Psoas Muscle	Psoas
5	chr9:15815000-15815200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
6	chr9:15815000-15815200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:15815000-15815400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:15816400-15818400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr9:15816800-15817200	Weak transcription	Thymus	Thymus
10	chr9:15817000-15817400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
11	chr9:15817200-15817600	ZNF genes & repeats	Thymus	Thymus

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