Variant report

Variant	nsv539990
Chromosome Location	chr9:9950856-10006290
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1494 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1494 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538398018	chr9:9950948-9950949	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs111455337	chr9:9950951-9950952	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs187874007	chr9:9950958-9950959	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs576993027	chr9:9950959-9950960	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116067878	chr9:9950989-9950990	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs562457173	chr9:9950995-9950996	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs576155633	chr9:9950997-9950998	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs192603955	chr9:9951000-9951001	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs561977281	chr9:9951003-9951004	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs140890792	chr9:9951006-9951007	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs547383212	chr9:9951047-9951048	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs570584388	chr9:9951059-9951060	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs564166092	chr9:9951069-9951070	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs533171910	chr9:9951070-9951071	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs549835663	chr9:9951072-9951073	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs144365703	chr9:9951073-9951074	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs147824554	chr9:9951126-9951127	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs536004707	chr9:9951141-9951142	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs377605952	chr9:9951176-9951177	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs549355542	chr9:9951179-9951180	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs142428634	chr9:9951195-9951196	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs183497323	chr9:9951207-9951208	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78206154	chr9:9951237-9951238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540177108	chr9:9951276-9951277	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73643834	chr9:9951280-9951281	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs576872731	chr9:9951285-9951286	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs539459239	chr9:9951345-9951346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73402696	chr9:9951355-9951356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189198485	chr9:9951380-9951381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192817413	chr9:9951422-9951423	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs567132971	chr9:9951425-9951426	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535510770	chr9:9951442-9951443	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555318980	chr9:9951457-9951458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs12552674	chr9:9951474-9951475	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs572239755	chr9:9951482-9951483	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs79211671	chr9:9951488-9951489	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs540893623	chr9:9951524-9951525	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs184953870	chr9:9951547-9951548	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs190199880	chr9:9951558-9951559	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs543462220	chr9:9951560-9951561	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563797756	chr9:9951561-9951562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs370643425	chr9:9951576-9951577	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs554294038	chr9:9951648-9951649	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs541003923	chr9:9951666-9951667	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs572858452	chr9:9951687-9951688	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs529417221	chr9:9951699-9951700	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs111244262	chr9:9951721-9951722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs181703182	chr9:9951723-9951724	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs566178235	chr9:9951728-9951729	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs564978142	chr9:9951750-9951751	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
abnormal development	18461090	CNVD
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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
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
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Lung cancer	20668451	CNVD
Schizophrenia	20838587	CNVD
Glioblastoma	18772890	CNVD
Glioblastoma multiforme	21390271	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	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
Acute myeloid leukemia	21251322	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21611746	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Glioma	20126413	CNVD

Chromatin state (count:158 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:9950000-9951400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr9:9950000-9952400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr9:9950800-9951200	Flanking Active TSS	Fetal Heart	heart
4	chr9:9950800-9952600	Enhancers	Primary hematopoietic stem cells	blood
5	chr9:9951200-9954200	Enhancers	Fetal Heart	heart
6	chr9:9951400-9951800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr9:9951800-9952200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:9962200-9962600	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr9:9963200-9963600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr9:9965000-9965400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr9:9965200-9967800	Enhancers	Fetal Heart	heart
12	chr9:9969600-9970000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr9:9970000-9972800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:9970600-9971000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:9972800-9973000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr9:9972800-9973600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr9:9973200-9973600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr9:9989600-9989800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:9989800-9990000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr9:9989800-10000400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:9990000-9999000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:9990200-9990600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:9994200-9994400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:9994400-9995000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:9995000-9995400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:9995000-9998600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr9:9995200-9995800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:9995200-9996200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr9:9995200-9998000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr9:9995200-9998200	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr9:9995200-9999200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr9:9995200-9999200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr9:9995200-9999400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr9:9995200-10001000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr9:9995400-9995600	Enhancers	H1 Cell Line	embryonic stem cell
36	chr9:9995400-9995600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr9:9995400-9995600	Enhancers	Primary hematopoietic stem cells	blood
38	chr9:9995400-9995800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr9:9995400-9997200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr9:9995600-9996200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr9:9995600-9996400	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr9:9995600-9996400	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:9995600-9997200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr9:9995800-9996400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:9996200-9997600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr9:9996200-9999000	Enhancers	Primary hematopoietic stem cells	blood
47	chr9:9996400-9996600	Enhancers	H1 Cell Line	embryonic stem cell
48	chr9:9996400-9996600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr9:9996400-9996800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr9:9996400-9996800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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