Variant report

Variant	nsv526254
Chromosome Location	chr9:18931061-18934303
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	chr9:18930120..18932657-chr9:19409759..19411895,2	K562	blood:
2	chr9:18930120..18933009-chr9:19409759..19411895,3	K562	blood:

Extended variants
information (count: 192 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:192 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10963842	chr9:18931061-18931062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs575417500	chr9:18931099-18931100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546116298	chr9:18931175-18931176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181324616	chr9:18931196-18931197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572924166	chr9:18931222-18931223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77098543	chr9:18931229-18931230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs185543412	chr9:18931230-18931231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528997957	chr9:18931234-18931235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4977471	chr9:18931237-18931238	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs561334569	chr9:18931239-18931240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs34886025	chr9:18931267-18931268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190648022	chr9:18931271-18931272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs531095875	chr9:18931301-18931302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs552861399	chr9:18931330-18931331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377151183	chr9:18931337-18931338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181742011	chr9:18931408-18931409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528345025	chr9:18931414-18931415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546621170	chr9:18931457-18931458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370588254	chr9:18931459-18931460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs147246488	chr9:18931463-18931464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs568130580	chr9:18931464-18931465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs568188811	chr9:18931476-18931477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186045192	chr9:18931495-18931496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556865621	chr9:18931524-18931525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575426558	chr9:18931543-18931544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10738523	chr9:18931547-18931548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs558075753	chr9:18931549-18931550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28547255	chr9:18931555-18931556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs368010512	chr9:18931556-18931557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs563436272	chr9:18931567-18931568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142992351	chr9:18931570-18931571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565488704	chr9:18931605-18931606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532832799	chr9:18931660-18931661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144651739	chr9:18931663-18931664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10757001	chr9:18931669-18931670	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs56154601	chr9:18931680-18931681	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192065826	chr9:18931681-18931682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183955715	chr9:18931710-18931711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35729747	chr9:18931716-18931717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552584650	chr9:18931731-18931732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564394121	chr9:18931776-18931777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113539174	chr9:18931786-18931787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148477062	chr9:18931819-18931820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186025528	chr9:18931834-18931835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535558660	chr9:18931836-18931837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551101932	chr9:18931884-18931885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114444844	chr9:18931890-18931891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539576251	chr9:18931893-18931894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs117831842	chr9:18931897-18931898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573144516	chr9:18931938-18931939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Chronic lymphocytic leukemia	21546498	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18912400-18935400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:18923600-18935400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:18928400-18935400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:18929400-18935200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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