Variant report

Variant	nsv520183
Chromosome Location	chr9:16209181-16211320
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	chr9:16207216..16210158-chr9:16217890..16219835,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf93-7	chr9:16206806-16209226	ucscGeneNc_uc003zmh_1

Extended variants
information (count: 122 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:122 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1115245	chr9:16209181-16209182	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181021822	chr9:16209182-16209183	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs184548233	chr9:16209192-16209193	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs558004270	chr9:16209196-16209197	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
5	rs566699670	chr9:16209229-16209230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188184581	chr9:16209257-16209258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540030592	chr9:16209264-16209265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147261453	chr9:16209265-16209266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573534498	chr9:16209276-16209277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114280444	chr9:16209289-16209290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556191919	chr9:16209290-16209291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566158843	chr9:16209294-16209295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs199965319	chr9:16209310-16209311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs577689503	chr9:16209311-16209312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544733263	chr9:16209330-16209331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148665787	chr9:16209352-16209353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs142152324	chr9:16209381-16209382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542909245	chr9:16209400-16209401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561423837	chr9:16209424-16209425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531687517	chr9:16209450-16209451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549921874	chr9:16209458-16209459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs543077603	chr9:16209466-16209467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs116511040	chr9:16209515-16209516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200765343	chr9:16209527-16209528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs151226918	chr9:16209576-16209577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs527462524	chr9:16209590-16209591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547943973	chr9:16209616-16209617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541265883	chr9:16209687-16209688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566670405	chr9:16209716-16209717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs139193227	chr9:16209733-16209734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555597268	chr9:16209735-16209736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs567467126	chr9:16209747-16209748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368294231	chr9:16209761-16209762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537822805	chr9:16209773-16209774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555865858	chr9:16209803-16209804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs577254350	chr9:16209816-16209817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544692313	chr9:16209826-16209827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs144002834	chr9:16209847-16209848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181933702	chr9:16209854-16209855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570191350	chr9:16209871-16209872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542819500	chr9:16209873-16209874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79811314	chr9:16209879-16209880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531933590	chr9:16209907-16209908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544122361	chr9:16209909-16209910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs9918958	chr9:16209911-16209912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532598850	chr9:16209918-16209919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs146421300	chr9:16209924-16209925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111827635	chr9:16209932-16209933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62547351	chr9:16209946-16209947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117538821	chr9:16209957-16209958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
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
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	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
Glioblastoma multiforme	18628472	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21611746	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:16203600-16213600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr9:16204400-16213600	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:16204600-16213200	Weak transcription	NHLF	lung
4	chr9:16204600-16213600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr9:16206000-16213600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr9:16207400-16213600	Weak transcription	Psoas Muscle	Psoas
7	chr9:16207400-16213600	Weak transcription	Right Atrium	heart
8	chr9:16207400-16214400	Weak transcription	Fetal Kidney	kidney
9	chr9:16207600-16212000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:16207800-16212200	Weak transcription	Ovary	ovary
11	chr9:16208000-16213200	Weak transcription	Muscle Satellite Cultured Cells	--

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