Variant report

Variant	nsv520185
Chromosome Location	chr9:7229073-7233161
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	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:
2	chr9:7227823..7230431-chr9:7232012..7234490,2	K562	blood:

Extended variants
information (count: 222 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373201725	chr9:7229210-7229211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs11792446	chr9:7229211-7229212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs11793854	chr9:7229214-7229215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145007632	chr9:7229215-7229216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542196496	chr9:7229216-7229217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528532188	chr9:7229230-7229231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548954572	chr9:7229239-7229240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546674153	chr9:7229249-7229250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531833276	chr9:7229302-7229303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564968853	chr9:7229311-7229312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532400825	chr9:7229339-7229340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562413550	chr9:7229383-7229384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10117675	chr9:7229427-7229428	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs569811606	chr9:7229438-7229439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537270671	chr9:7229443-7229444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549162537	chr9:7229470-7229471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146948670	chr9:7229471-7229472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567450939	chr9:7229484-7229485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534733320	chr9:7229487-7229488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553099921	chr9:7229512-7229513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs117558154	chr9:7229527-7229528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564307553	chr9:7229568-7229569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538215232	chr9:7229569-7229570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533288590	chr9:7229593-7229594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549843722	chr9:7229597-7229598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs138257012	chr9:7229604-7229605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575820551	chr9:7229631-7229632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10120936	chr9:7229645-7229646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554776906	chr9:7229653-7229654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573082840	chr9:7229655-7229656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540376554	chr9:7229674-7229675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149133569	chr9:7229768-7229769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550801391	chr9:7229803-7229804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143302923	chr9:7229815-7229816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544250734	chr9:7229816-7229817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563580255	chr9:7229826-7229827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191209982	chr9:7229880-7229881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs79238020	chr9:7229888-7229889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530746331	chr9:7229943-7229944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549274740	chr9:7229949-7229950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567513230	chr9:7229972-7229973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148317211	chr9:7229998-7229999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76491894	chr9:7230004-7230005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34234144	chr9:7230067-7230068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571206899	chr9:7230071-7230072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7849079	chr9:7230101-7230102	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs181601153	chr9:7230108-7230109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568820192	chr9:7230117-7230118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117046540	chr9:7230133-7230134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554842342	chr9:7230135-7230136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
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
Disorders of sex development	21048976	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
Oral squamous cell carcinoma	17134496	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
Developmental delay	21147756	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
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Metastatic melanoma	18483359	CNVD
Glioblastoma	19074898	CNVD
Malignant melanoma	19074898	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Medulloblastoma	16783165	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:7229200-7238000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:7229400-7229600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr9:7231000-7231200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:7231200-7233600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr9:7231200-7239400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr9:7231200-7239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:7231800-7235200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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