Variant report

Variant	esv3426010
Chromosome Location	chr9:101442681-101445179
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101438733..101440409-chr9:101444252..101446799,2	K562	blood:
2	chr9:101442931..101444662-chr9:101446701..101449457,2	MCF-7	breast:
3	chr9:101443808..101446573-chr9:101451549..101453515,2	K562	blood:
4	chr9:101437085..101440409-chr9:101442442..101445752,3	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187868151	chr9:101442701-101442702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544445293	chr9:101442712-101442713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564804422	chr9:101442715-101442716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533418255	chr9:101442748-101442749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530334002	chr9:101442765-101442766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192967999	chr9:101442775-101442776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4743266	chr9:101442792-101442793	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567175588	chr9:101442813-101442814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs147873484	chr9:101442850-101442851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547867199	chr9:101443042-101443043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs77831009	chr9:101443043-101443044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369704351	chr9:101443069-101443070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538457356	chr9:101443087-101443088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4743267	chr9:101443122-101443123	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs72731081	chr9:101443133-101443134	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs187643360	chr9:101443209-101443210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192503311	chr9:101443237-101443238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573251146	chr9:101443266-101443267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535986836	chr9:101443280-101443281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113003864	chr9:101443313-101443314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs184739183	chr9:101443319-101443320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544800946	chr9:101443379-101443380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10123681	chr9:101443408-101443409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs578229898	chr9:101443424-101443425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs551906650	chr9:101443438-101443439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558960675	chr9:101443473-101443474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528093731	chr9:101443476-101443477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200592169	chr9:101443543-101443544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs561826739	chr9:101443572-101443573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530480167	chr9:101443602-101443603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550790263	chr9:101443617-101443618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570550186	chr9:101443618-101443619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200172450	chr9:101443622-101443623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs36078780	chr9:101443623-101443624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142515040	chr9:101443624-101443625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs55725528	chr9:101443627-101443628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs546899486	chr9:101443636-101443637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566738105	chr9:101443662-101443663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs535872087	chr9:101443688-101443689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144479388	chr9:101443730-101443731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555750963	chr9:101443775-101443776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569373768	chr9:101443786-101443787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151200710	chr9:101443791-101443792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558360406	chr9:101443792-101443793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542807723	chr9:101443804-101443805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs578100466	chr9:101443812-101443813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs199727369	chr9:101443865-101443866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34524279	chr9:101443875-101443876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12555248	chr9:101443877-101443878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199583726	chr9:101443883-101443884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101442000-101444800	Weak transcription	Placenta	Placenta
2	chr9:101442000-101448400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr9:101444800-101445400	Enhancers	Placenta	Placenta

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