Variant report

Variant	nsv1016055
Chromosome Location	chr9:10665305-10690543
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	chr9:10656522..10658673-chr9:10675612..10678102,2	K562	blood:

Extended variants
information (count: 296 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527549004	chr9:10673800-10673801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs7029106	chr9:10673850-10673851	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs376686883	chr9:10673891-10673892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563894937	chr9:10673912-10673913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs138204792	chr9:10673929-10673930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs535742476	chr9:10673933-10673934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574258052	chr9:10673967-10673968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570028955	chr9:10673972-10673973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529308055	chr9:10673978-10673979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549360828	chr9:10674011-10674012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566383080	chr9:10674017-10674018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs187453345	chr9:10674028-10674029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs6474585	chr9:10674084-10674085	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs10217768	chr9:10674110-10674111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571849941	chr9:10674123-10674124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537231540	chr9:10674127-10674128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556253620	chr9:10674157-10674158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs576028823	chr9:10674173-10674174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568145784	chr9:10674188-10674189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76963660	chr9:10674204-10674205	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541441166	chr9:10674214-10674215	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191738055	chr9:10674219-10674220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144056683	chr9:10674228-10674229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75623526	chr9:10674230-10674231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367668217	chr9:10674235-10674236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539659225	chr9:10674365-10674366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564032942	chr9:10674405-10674406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148527210	chr9:10674433-10674434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78219150	chr9:10674470-10674471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7468209	chr9:10674480-10674481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs141908292	chr9:10674492-10674493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146056013	chr9:10674495-10674496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs80119008	chr9:10674502-10674503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143898073	chr9:10674506-10674507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4391481	chr9:10674523-10674524	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs571824420	chr9:10674525-10674526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537673849	chr9:10674554-10674555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4443711	chr9:10674573-10674574	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs184022889	chr9:10674574-10674575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs535134489	chr9:10674576-10674577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555044035	chr9:10674586-10674587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527448003	chr9:10674638-10674639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111566653	chr9:10674684-10674685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113656480	chr9:10674698-10674699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558053252	chr9:10674710-10674711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371225575	chr9:10674737-10674738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188970412	chr9:10674750-10674751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543610404	chr9:10674767-10674768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117673306	chr9:10674784-10674785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs4376540	chr9:10674794-10674795	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Cancer	20164920	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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
Barrett''s syndrome	19417022	CNVD
Renal cell carcinoma	21215367	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10673800-10675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:10674800-10675200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr9:10675800-10676000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:10675800-10676000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
7	chr9:10676000-10677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10678400-10679000	Enhancers	NH-A	brain
9	chr9:10685600-10686400	Enhancers	Placenta Amnion	Placenta Amnion
10	chr9:10686600-10687800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr9:10687200-10688000	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr9:10687400-10688000	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr9:10687400-10688000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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