Variant report

Variant	esv3394786
Chromosome Location	chr9:93455032-93458330
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 218 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:218 , 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	rs566683982	chr9:93455207-93455208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147313554	chr9:93455238-93455239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114035662	chr9:93455259-93455260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73489759	chr9:93455294-93455295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs558684378	chr9:93455333-93455334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575115277	chr9:93455343-93455344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143358147	chr9:93455381-93455382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370186059	chr9:93455382-93455383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575934610	chr9:93455389-93455390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552037632	chr9:93455393-93455394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535223841	chr9:93455398-93455399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183094976	chr9:93455399-93455400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188799464	chr9:93455408-93455409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1185356	chr9:93455417-93455418	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs74522641	chr9:93455419-93455420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191097877	chr9:93455422-93455423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551803660	chr9:93455461-93455462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565452000	chr9:93455488-93455489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531159492	chr9:93455489-93455490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs183454214	chr9:93455495-93455496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567802752	chr9:93455497-93455498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377746935	chr9:93455523-93455524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs546930397	chr9:93455538-93455539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370135308	chr9:93455544-93455545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374374323	chr9:93455573-93455574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs1184196	chr9:93455635-93455636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs34232998	chr9:93455646-93455647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187568062	chr9:93455703-93455704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370924841	chr9:93455710-93455711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150821240	chr9:93455827-93455828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537689014	chr9:93455870-93455871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191314699	chr9:93455891-93455892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574149732	chr9:93455926-93455927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16906767	chr9:93455943-93455944	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs560060190	chr9:93455966-93455967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139269875	chr9:93456022-93456023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545664997	chr9:93456025-93456026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565614205	chr9:93456033-93456034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78231421	chr9:93456085-93456086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551146263	chr9:93456098-93456099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62558558	chr9:93456106-93456107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561473571	chr9:93456142-93456143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs530180826	chr9:93456180-93456181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546798092	chr9:93456185-93456186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559767682	chr9:93456205-93456206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566836768	chr9:93456209-93456210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13288113	chr9:93456214-93456215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs184526767	chr9:93456223-93456224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113198100	chr9:93456276-93456277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs145257687	chr9:93456288-93456289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Mental retardation	21693067	CNVD
Glioma	17123091	CNVD
Mantle cell lymphoma	19029149	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
overgrowth syndrome	16570072	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:93455200-93456400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:93456400-93456600	Bivalent/Poised TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:93456400-93456600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr9:93456400-93457200	ZNF genes & repeats	Fetal Kidney	kidney
5	chr9:93456600-93457200	Active TSS	Fetal Heart	heart
6	chr9:93456600-93460000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:93457000-93462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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