Variant report

Variant	nsv613398
Chromosome Location	chr9:10660729-10686548
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: 291 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:291 , 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	rs551306799	chr9:10661283-10661284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145594605	chr9:10661296-10661297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530916852	chr9:10661299-10661300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs186720860	chr9:10661300-10661301	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10756088	chr9:10661370-10661371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114556135	chr9:10661377-10661378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs546995763	chr9:10661386-10661387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567073641	chr9:10661389-10661390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs539286011	chr9:10661392-10661393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558895106	chr9:10661401-10661402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191557763	chr9:10661407-10661408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs370095879	chr9:10661410-10661411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs556682206	chr9:10661449-10661450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148485046	chr9:10661458-10661459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10809149	chr9:10661479-10661480	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs542240504	chr9:10661528-10661529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs76661761	chr9:10661536-10661537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573067645	chr9:10661538-10661539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545246296	chr9:10661564-10661565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564933169	chr9:10661586-10661587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530771777	chr9:10661604-10661605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544410539	chr9:10661618-10661619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs7030381	chr9:10661622-10661623	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140487707	chr9:10661668-10661669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs10809150	chr9:10661677-10661678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs566818594	chr9:10661690-10661691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376190786	chr9:10661701-10661702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74939280	chr9:10661709-10661710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183467333	chr9:10661718-10661719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7030867	chr9:10661779-10661780	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs7030672	chr9:10661798-10661799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs554717793	chr9:10661814-10661815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147071254	chr9:10661914-10661915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs7858458	chr9:10661945-10661946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7031130	chr9:10661992-10661993	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs147665185	chr9:10662035-10662036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs7019599	chr9:10662056-10662057	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188402325	chr9:10662067-10662068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114945806	chr9:10662068-10662069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs544442193	chr9:10662083-10662084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs142317115	chr9:10662087-10662088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs146376719	chr9:10662091-10662092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74496513	chr9:10662118-10662119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535111525	chr9:10662138-10662139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190769270	chr9:10662143-10662144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs546918065	chr9:10662149-10662150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532581878	chr9:10662152-10662153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7019756	chr9:10662166-10662167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs183368847	chr9:10662168-10662169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531854137	chr9:10662235-10662236	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10661200-10662200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:10661400-10662400	Enhancers	Fetal Heart	heart
3	chr9:10673800-10675200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:10674400-10675200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:10674800-10675200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr9:10675800-10676000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr9:10675800-10676000	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
9	chr9:10676000-10677600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr9:10678400-10679000	Enhancers	NH-A	brain
11	chr9:10685600-10686400	Enhancers	Placenta Amnion	Placenta Amnion

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