Variant report

Variant	esv12218
Chromosome Location	chr9:15020755-15022389
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34196279	chr9:15020768-15020769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs2382510	chr9:15020769-15020770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs567519731	chr9:15020828-15020829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538272765	chr9:15020859-15020860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17223865	chr9:15020861-15020862	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs574846992	chr9:15020862-15020863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571760300	chr9:15020875-15020876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs12343244	chr9:15020913-15020914	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs554366806	chr9:15020919-15020920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572680506	chr9:15020978-15020979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12344181	chr9:15021010-15021011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs555258500	chr9:15021011-15021012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573539570	chr9:15021024-15021025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7848992	chr9:15021048-15021049	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562436929	chr9:15021054-15021055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs59555304	chr9:15021092-15021093	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs544710399	chr9:15021097-15021098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373481489	chr9:15021109-15021110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10511604	chr9:15021118-15021119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs567896334	chr9:15021121-15021122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12353220	chr9:15021184-15021185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs561264199	chr9:15021201-15021202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376005571	chr9:15021203-15021204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531606403	chr9:15021206-15021207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs555338081	chr9:15021213-15021214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149357614	chr9:15021224-15021225	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571560510	chr9:15021226-15021227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539087256	chr9:15021236-15021237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113035343	chr9:15021250-15021251	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188792974	chr9:15021295-15021296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12353266	chr9:15021297-15021298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs112542779	chr9:15021301-15021302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554941117	chr9:15021316-15021317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192831026	chr9:15021361-15021362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558921197	chr9:15021407-15021408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537430445	chr9:15021440-15021441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12353337	chr9:15021471-15021472	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs10511605	chr9:15021481-15021482	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs565471426	chr9:15021515-15021516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544671842	chr9:15021554-15021555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs78285948	chr9:15021580-15021581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13283582	chr9:15021594-15021595	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs13302236	chr9:15021608-15021609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs13283720	chr9:15021653-15021654	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs73421756	chr9:15021664-15021665	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs370201578	chr9:15021669-15021670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs13283735	chr9:15021682-15021683	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs13302511	chr9:15021707-15021708	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs184252098	chr9:15021715-15021716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs13302526	chr9:15021734-15021735	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:86)

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
Pancreatic cancer	21811587	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15020200-15021200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:15021200-15021800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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