Variant report

Variant	esv3497312
Chromosome Location	chr9:101307881-101312729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101305246..101310158-chr9:101310437..101314302,6	K562	blood:
2	chr9:101306147..101307705-chr9:101312310..101313945,2	K562	blood:
3	chr9:101305246..101310158-chr9:101310437..101314302,6	K562	blood:
4	chr9:101297663..101300259-chr9:101312178..101315523,3	MCF-7	breast:
5	chr9:101302083..101304339-chr9:101306203..101307939,2	K562	blood:
6	chr9:101290759..101293528-chr9:101305877..101308434,2	MCF-7	breast:
7	chr9:101304068..101307864-chr9:101310405..101312317,3	MCF-7	breast:

Extended variants
information (count: 152 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs548865363	chr9:101307913-101307914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569139838	chr9:101307987-101307988	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58087887	chr9:101307993-101307994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551816681	chr9:101308011-101308012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571705182	chr9:101308025-101308026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375964185	chr9:101308052-101308053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577765823	chr9:101308074-101308075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1999498	chr9:101308111-101308112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs375120196	chr9:101308132-101308133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191322216	chr9:101308153-101308154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111303309	chr9:101308156-101308157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs186911000	chr9:101308168-101308169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576343500	chr9:101308176-101308177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142673078	chr9:101308227-101308228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558802752	chr9:101308234-101308235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79328959	chr9:101308339-101308340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78689511	chr9:101308340-101308341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534037283	chr9:101308419-101308420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577266573	chr9:101308431-101308432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539838427	chr9:101308475-101308476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543130722	chr9:101308491-101308492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560202838	chr9:101308504-101308505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200863357	chr9:101308538-101308539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573608326	chr9:101308609-101308610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs147542106	chr9:101308612-101308613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200444321	chr9:101308669-101308670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540480569	chr9:101308693-101308694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190667793	chr9:101308699-101308700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs138520381	chr9:101308711-101308712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142001800	chr9:101308757-101308758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565166086	chr9:101308824-101308825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527692342	chr9:101308853-101308854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547425467	chr9:101308863-101308864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570753834	chr9:101308890-101308891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs183218603	chr9:101308927-101308928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536314778	chr9:101308962-101308963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs371464488	chr9:101308964-101308965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187544079	chr9:101308976-101308977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376705372	chr9:101309047-101309048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150674013	chr9:101309062-101309063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139878167	chr9:101309067-101309068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs115627983	chr9:101309093-101309094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73655490	chr9:101309102-101309103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533786027	chr9:101309119-101309120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553463666	chr9:101309125-101309126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149809181	chr9:101309163-101309164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs542394622	chr9:101309175-101309176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541527331	chr9:101309197-101309198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529111358	chr9:101309257-101309258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs192523594	chr9:101309268-101309269	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
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

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101304400-101311800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr9:101307200-101308200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr9:101308200-101311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:101311800-101312000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:101311800-101312000	Enhancers	HSMM	muscle
6	chr9:101311800-101312200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr9:101311800-101315400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr9:101311800-101316600	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:101312000-101314000	Enhancers	NH-A	brain
10	chr9:101312200-101312400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:101312200-101313000	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr9:101312200-101313800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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