Variant report

Variant	esv3446160
Chromosome Location	chr9:86661573-86668797
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:86541635..86544345-chr9:86665548..86667347,2	K562	blood:
2	chr9:86593417..86595634-chr9:86660719..86663662,2	MCF-7	breast:
3	chr9:86663038..86665601-chr9:86690355..86692187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165119	chromatin interactions
ENSG00000178966	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62562561	chr9:86661573-86661574	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370784167	chr9:86661584-86661585	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs374153261	chr9:86661585-86661586	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs368944117	chr9:86661586-86661587	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs60119446	chr9:86661587-86661588	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs111677288	chr9:86661588-86661589	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs575773545	chr9:86661600-86661601	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs72618143	chr9:86661602-86661603	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs554492657	chr9:86661608-86661609	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs60889426	chr9:86661645-86661646	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs386735703	chr9:86661653-86661654	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs10780645	chr9:86661654-86661655	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs568568741	chr9:86661662-86661663	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs529339864	chr9:86661771-86661772	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs142845549	chr9:86661844-86661845	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs189972998	chr9:86661850-86661851	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs569458709	chr9:86661972-86661973	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs73464668	chr9:86662005-86662006	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs557612288	chr9:86662027-86662028	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs115350682	chr9:86662031-86662032	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs536966069	chr9:86662032-86662033	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs548626265	chr9:86662037-86662038	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs573758535	chr9:86662179-86662180	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs541119265	chr9:86662214-86662215	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552833645	chr9:86662215-86662216	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs577697163	chr9:86662237-86662238	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544992538	chr9:86662253-86662254	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs182320631	chr9:86662335-86662336	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs150679212	chr9:86662407-86662408	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs200631971	chr9:86662422-86662423	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532000608	chr9:86662498-86662499	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs543761449	chr9:86662609-86662610	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs186587213	chr9:86662695-86662696	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562303135	chr9:86662706-86662707	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs192696938	chr9:86662707-86662708	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs139859780	chr9:86662889-86662890	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368088714	chr9:86662898-86662899	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs533276247	chr9:86662905-86662906	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs185717108	chr9:86662924-86662925	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs112706698	chr9:86662955-86662956	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs116059187	chr9:86662973-86662974	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs75175700	chr9:86663006-86663007	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs567446315	chr9:86663021-86663022	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs111516660	chr9:86663025-86663026	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534551725	chr9:86663038-86663039	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs11790588	chr9:86663039-86663040	Inactive region	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372923482	chr9:86663071-86663072	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs545132792	chr9:86663108-86663109	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs370645757	chr9:86663135-86663136	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs375847580	chr9:86663136-86663137	Inactive region	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
Urothelial cell carcinoma	18451213	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Renal cell carcinoma	18765545	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:86668600-86669000	Enhancers	Ovary	ovary
2	chr9:86668600-86669600	Enhancers	Skeletal Muscle Female	skeletal muscle

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