Variant report

Variant	esv2462705
Chromosome Location	chr9:16389073-16390515
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573251268	chr9:16389085-16389086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369588292	chr9:16389094-16389095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10756752	chr9:16389209-16389210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573957679	chr9:16389233-16389234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139923033	chr9:16389238-16389239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562934977	chr9:16389258-16389259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530732462	chr9:16389325-16389326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545973034	chr9:16389326-16389327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188537966	chr9:16389390-16389391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564270044	chr9:16389397-16389398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377379929	chr9:16389403-16389404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs139108406	chr9:16389407-16389408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201720803	chr9:16389408-16389409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201483095	chr9:16389609-16389610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs199715950	chr9:16389623-16389624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151025994	chr9:16389752-16389753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs77929184	chr9:16389768-16389769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567990255	chr9:16389780-16389781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528848728	chr9:16389786-16389787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34205747	chr9:16389820-16389821	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375922319	chr9:16389826-16389827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376172580	chr9:16389851-16389852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539146363	chr9:16389869-16389870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114958771	chr9:16389883-16389884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149791832	chr9:16389891-16389892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534254103	chr9:16389902-16389903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111335953	chr9:16389903-16389904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540928624	chr9:16389906-16389907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573966195	chr9:16389939-16389940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs36014733	chr9:16389952-16389953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs145581391	chr9:16389970-16389971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143201344	chr9:16389987-16389988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78642394	chr9:16390005-16390006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs76587767	chr9:16390007-16390008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185062676	chr9:16390008-16390009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75174246	chr9:16390038-16390039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540177420	chr9:16390064-16390065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562867662	chr9:16390072-16390073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs374693354	chr9:16390080-16390081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528887022	chr9:16390091-16390092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148873188	chr9:16390096-16390097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144171721	chr9:16390127-16390128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs188325301	chr9:16390143-16390144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551041163	chr9:16390155-16390156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114351921	chr9:16390175-16390176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs192662286	chr9:16390208-16390209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs12380533	chr9:16390214-16390215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555794593	chr9:16390222-16390223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567901636	chr9:16390234-16390235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538153958	chr9:16390286-16390287	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
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
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16388800-16393400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:16389000-16390200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:16390200-16390400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:16390200-16390600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:16390400-16393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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