Variant report

Variant	esv3430541
Chromosome Location	chr9:97304131-97306779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FBP2-2	chr9:97304188-97304269	NONHSAT133324

Extended variants
information (count: 172 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:172 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557386461	chr9:97304158-97304159	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs188157766	chr9:97304182-97304183	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574866139	chr9:97304187-97304188	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs139882132	chr9:97304208-97304209	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs144957025	chr9:97304214-97304215	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs147953133	chr9:97304242-97304243	Active TSS Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs145366208	chr9:97304309-97304310	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs669113	chr9:97304332-97304333	Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs180818607	chr9:97304338-97304339	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191140047	chr9:97304373-97304374	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550814876	chr9:97304381-97304382	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562790766	chr9:97304383-97304384	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs491123	chr9:97304402-97304403	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs568501542	chr9:97304434-97304435	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570907855	chr9:97304458-97304459	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535098209	chr9:97304459-97304460	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546814309	chr9:97304478-97304479	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570157251	chr9:97304512-97304513	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113168277	chr9:97304513-97304514	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs79883395	chr9:97304533-97304534	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10821361	chr9:97304540-97304541	Active TSS Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557586647	chr9:97304563-97304564	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187633233	chr9:97304576-97304577	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148046275	chr9:97304581-97304582	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12001333	chr9:97304592-97304593	Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557326266	chr9:97304614-97304615	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190314004	chr9:97304640-97304641	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540305748	chr9:97304641-97304642	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140985999	chr9:97304646-97304647	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573749506	chr9:97304692-97304693	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544077391	chr9:97304711-97304712	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562716085	chr9:97304713-97304714	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs533264907	chr9:97304783-97304784	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545351902	chr9:97304788-97304789	Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144917270	chr9:97304832-97304833	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
36	rs528493922	chr9:97304844-97304845	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs547044091	chr9:97304875-97304876	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs138766982	chr9:97304883-97304884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs529447258	chr9:97304914-97304915	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs550753074	chr9:97304915-97304916	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs2772014	chr9:97304926-97304927	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs558062477	chr9:97304948-97304949	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs200353485	chr9:97304957-97304958	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs572626804	chr9:97304971-97304972	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs374713109	chr9:97304973-97304974	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs60632470	chr9:97304977-97304978	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs370285813	chr9:97304985-97304986	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs551709213	chr9:97304989-97304990	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs372813501	chr9:97305008-97305009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs376995732	chr9:97305020-97305021	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Microcephaly	18830227	CNVD
overgrowth syndrome	16570072	CNVD
Effusion lymphoma	18079361	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:97296400-97314200	Weak transcription	Liver	Liver
2	chr9:97297200-97315000	Weak transcription	HepG2	liver
3	chr9:97302000-97304400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr9:97302600-97315000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr9:97302800-97305800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:97303800-97304800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr9:97304400-97304600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:97304400-97304800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr9:97304600-97307800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:97304800-97315200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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