Variant report

Variant	esv3410064
Chromosome Location	chr9:103478731-103483729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103479629..103481614-chr9:103484023..103486115,2	K562	blood:

Extended variants
information (count: 113 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547745709	chr9:103478744-103478745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567622711	chr9:103478814-103478815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567954243	chr9:103478862-103478863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs59297169	chr9:103478863-103478864	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs111255777	chr9:103478892-103478893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192147380	chr9:103478896-103478897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs536385256	chr9:103478983-103478984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs185024165	chr9:103479042-103479043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558659351	chr9:103479066-103479067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138699551	chr9:103479085-103479086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535036977	chr9:103479140-103479141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114385221	chr9:103479161-103479162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189410414	chr9:103479232-103479233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs146969481	chr9:103479272-103479273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138102479	chr9:103479313-103479314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs71507695	chr9:103479319-103479320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576342432	chr9:103479339-103479340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181970487	chr9:103479380-103479381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564996411	chr9:103479512-103479513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527239786	chr9:103479513-103479514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541031554	chr9:103479519-103479520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs149518468	chr9:103479543-103479544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs530419283	chr9:103479584-103479585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556616179	chr9:103479618-103479619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550088425	chr9:103479632-103479633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73657360	chr9:103479649-103479650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552224663	chr9:103479709-103479710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs566166313	chr9:103479818-103479819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534668041	chr9:103479828-103479829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548551196	chr9:103479845-103479846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10989222	chr9:103479848-103479849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs62577650	chr9:103479877-103479878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536537312	chr9:103479924-103479925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556514344	chr9:103479961-103479962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs576278234	chr9:103479974-103479975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs148695804	chr9:103480034-103480035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs184564482	chr9:103480038-103480039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572097785	chr9:103480059-103480060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs529678572	chr9:103480060-103480061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540815478	chr9:103480080-103480081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576588140	chr9:103480082-103480083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560916543	chr9:103480139-103480140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10989223	chr9:103480173-103480174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574383780	chr9:103480185-103480186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543672737	chr9:103480198-103480199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs141823489	chr9:103480226-103480227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532520293	chr9:103480252-103480253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552361607	chr9:103480283-103480284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375312261	chr9:103480299-103480300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12346541	chr9:103480387-103480388	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:69)

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
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
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Fukuyama congenital muscular dystrophy	21572526	CNVD
Testicular germ cell tumor	18059402	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Mantle cell lymphoma	19029149	CNVD
Intracranial aneurysm	16715129	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Glioma	20126413	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103478000-103481000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr9:103482800-103483600	Enhancers	Fetal Lung	lung

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