Variant report

Variant	nsv613607
Chromosome Location	chr9:12379547-12421929
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	chr6:116381055..116381867-chr9:12405688..12406208,2	Hela-S3	cervix:

Extended variants
information (count: 568 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:568 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563358611	chr9:12389811-12389812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs114465170	chr9:12389816-12389817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549093267	chr9:12389824-12389825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs559504684	chr9:12389881-12389882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529237800	chr9:12389887-12389888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147819433	chr9:12389902-12389903	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs76658230	chr9:12389908-12389909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189637996	chr9:12389941-12389942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567315696	chr9:12389945-12389946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537351821	chr9:12389961-12389962	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550513656	chr9:12389971-12389972	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567300490	chr9:12389973-12389974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536339767	chr9:12389981-12389982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553146926	chr9:12389994-12389995	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs182658641	chr9:12390027-12390028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186987449	chr9:12390036-12390037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs193203510	chr9:12390062-12390063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141010665	chr9:12390068-12390069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536356459	chr9:12390081-12390082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151213128	chr9:12390135-12390136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183442413	chr9:12390139-12390140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369659580	chr9:12390141-12390142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563319778	chr9:12390143-12390144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369199867	chr9:12390148-12390149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201512703	chr9:12390152-12390153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573730737	chr9:12390163-12390164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs371647809	chr9:12390183-12390184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561153759	chr9:12390219-12390220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542702888	chr9:12390222-12390223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113100240	chr9:12390226-12390227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs12342692	chr9:12390266-12390267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs528577564	chr9:12390274-12390275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188499567	chr9:12390279-12390280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs193115704	chr9:12390283-12390284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150219208	chr9:12390284-12390285	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184799627	chr9:12390299-12390300	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs367601464	chr9:12390332-12390333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs10960654	chr9:12390370-12390371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10809766	chr9:12390462-12390463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369609736	chr9:12390474-12390475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558690275	chr9:12390491-12390492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568985015	chr9:12390492-12390493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs188390897	chr9:12390512-12390513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191360748	chr9:12390521-12390522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573694056	chr9:12390573-12390574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575338102	chr9:12390579-12390580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs578198770	chr9:12390601-12390602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs114170422	chr9:12390659-12390660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537411265	chr9:12390670-12390671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552955723	chr9:12390671-12390672	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
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
abnormal development	18461090	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
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
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
Breast cancer	21611746	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Chordoma	21215367	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12389800-12391000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:12390600-12390800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:12391000-12392000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:12391000-12394000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:12392000-12393000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:12392400-12395000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr9:12394000-12394600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr9:12394000-12395000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:12400800-12401800	Enhancers	Fetal Kidney	kidney
10	chr9:12402400-12403000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr9:12404000-12404200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:12414000-12415600	Enhancers	Fetal Kidney	kidney
13	chr9:12414200-12414600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr9:12414400-12415600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:12414600-12414800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr9:12414800-12416200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:12415000-12415600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr9:12415000-12416200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr9:12415600-12417400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr9:12415600-12418800	Weak transcription	Fetal Kidney	kidney
21	chr9:12416200-12417000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:12416400-12417600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr9:12416800-12418200	Enhancers	Brain Germinal Matrix	brain
24	chr9:12416800-12418200	Enhancers	Fetal Brain Male	brain
25	chr9:12417400-12417600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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