Variant report

Variant	nsv613320
Chromosome Location	chr9:9711904-9750139
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	chr1:11968121..11968918-chr9:9730851..9731851,3	HCT-116	colon:

Variant related genes	Relation type
ENSG00000199347	chromatin interactions

Extended variants
information (count: 599 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542290324	chr9:9714001-9714002	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560914604	chr9:9714022-9714023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371443457	chr9:9714033-9714034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374133929	chr9:9714053-9714054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs368067631	chr9:9714059-9714060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61176173	chr9:9714087-9714088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs5896350	chr9:9714090-9714091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs77765029	chr9:9714113-9714114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78683959	chr9:9714124-9714125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551528728	chr9:9714150-9714151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372085557	chr9:9714153-9714154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147534206	chr9:9714160-9714161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537531177	chr9:9714176-9714177	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs555525645	chr9:9714211-9714212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567642842	chr9:9714213-9714214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377149450	chr9:9714228-9714229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs140242000	chr9:9714229-9714230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553306257	chr9:9714239-9714240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541159407	chr9:9714241-9714242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190506557	chr9:9714269-9714270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369534395	chr9:9714290-9714291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs116052652	chr9:9714342-9714343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143944566	chr9:9714359-9714360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs180837573	chr9:9714365-9714366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184504978	chr9:9714373-9714374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542703181	chr9:9714382-9714383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560782262	chr9:9714414-9714415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189823911	chr9:9714418-9714419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs60759958	chr9:9714439-9714440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377277736	chr9:9714501-9714502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559638513	chr9:9714511-9714512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34824716	chr9:9714513-9714514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397764524	chr9:9714514-9714515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533430766	chr9:9714544-9714545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs181201473	chr9:9714559-9714560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563904358	chr9:9714574-9714575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530949047	chr9:9714579-9714580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs185694517	chr9:9714582-9714583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs111555557	chr9:9714635-9714636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs190559177	chr9:9714674-9714675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112418128	chr9:9714688-9714689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs535038086	chr9:9714720-9714721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs546982798	chr9:9714750-9714751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571597382	chr9:9714759-9714760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147302276	chr9:9714761-9714762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140998417	chr9:9718203-9718204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs66704921	chr9:9718204-9718205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs567595948	chr9:9718213-9718214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs144115809	chr9:9718277-9718278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553242846	chr9:9718283-9718284	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

Disease	PMID	Source
abnormal development	18461090	CNVD
Disorders of sex development	21048976	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	21764851	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioma	17123091	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16272173	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Gastric cancer	16891809	CNVD
Mental retardation	17847001	CNVD
Cutaneous squamous cell carcinomas	17420988	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9714000-9714800	Enhancers	Fetal Kidney	kidney
2	chr9:9718200-9718400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr9:9718400-9719200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:9718600-9720000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:9719000-9719800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
6	chr9:9729200-9731200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr9:9730200-9730600	Enhancers	GM12878-XiMat	blood
8	chr9:9745200-9750800	Enhancers	HUVEC	blood vessel
9	chr9:9747800-9748600	Enhancers	Muscle Satellite Cultured Cells	--
10	chr9:9748600-9752600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr9:9749600-9751000	Enhancers	Fetal Kidney	kidney

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