Variant report

Variant	nsv436609
Chromosome Location	chr9:878258-882957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:879356..881162-chr9:885762..888045,2	K562	blood:
2	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
3	chr9:875320..878036-chr9:881518..883087,2	MCF-7	breast:
4	chr9:879492..881659-chr9:881684..884926,3	MCF-7	breast:
5	chr9:873202..875175-chr9:876431..878577,2	K562	blood:

Extended variants
information (count: 269 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:269 , 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	rs555155003	chr9:878272-878273	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575096583	chr9:878339-878340	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs544070811	chr9:878341-878342	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556290037	chr9:878348-878349	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs188004155	chr9:878377-878378	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544666006	chr9:878422-878423	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs548775218	chr9:878423-878424	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs564913165	chr9:878441-878442	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs569235019	chr9:878443-878444	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs565477022	chr9:878457-878458	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs540934478	chr9:878471-878472	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs560886528	chr9:878526-878527	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs145930081	chr9:878537-878538	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs55873183	chr9:878563-878564	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs191269349	chr9:878622-878623	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs570035399	chr9:878659-878660	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs531075122	chr9:878679-878680	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs375905206	chr9:878682-878683	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs182737543	chr9:878683-878684	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs138520852	chr9:878724-878725	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs566066509	chr9:878737-878738	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs534967466	chr9:878770-878771	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs141667959	chr9:878797-878798	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs544820019	chr9:878829-878830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs57858982	chr9:878831-878832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563329559	chr9:878836-878837	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186644226	chr9:878848-878849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557624266	chr9:878854-878855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370587392	chr9:878873-878874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs576024466	chr9:878887-878888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs538749017	chr9:878923-878924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558224586	chr9:878927-878928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192622734	chr9:878960-878961	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540670038	chr9:878978-878979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560824842	chr9:878981-878982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531871731	chr9:879026-879027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75577072	chr9:879041-879042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114616246	chr9:879055-879056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532452733	chr9:879067-879068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548672388	chr9:879068-879069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs184647007	chr9:879085-879086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559633166	chr9:879117-879118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528491626	chr9:879129-879130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548630208	chr9:879143-879144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4740955	chr9:879145-879146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187614643	chr9:879160-879161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs192908246	chr9:879167-879168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551168899	chr9:879169-879170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs185115278	chr9:879191-879192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150745015	chr9:879220-879221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Non-small cell lung cancer	16651412	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:878200-878400	Enhancers	Right Ventricle	heart
2	chr9:878200-878600	Bivalent Enhancer	Left Ventricle	heart
3	chr9:878400-878800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
4	chr9:878400-878800	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr9:878400-879000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:878600-878800	Enhancers	Adipose Nuclei	Adipose
7	chr9:879000-881800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:880400-882000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr9:880600-881200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr9:880800-881000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr9:881800-883600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:882000-882400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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