Variant report

Variant	nsv984559
Chromosome Location	chr9:73789685-73831841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1045 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1045 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548863242	chr9:73789708-73789709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533547369	chr9:73789722-73789723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144465361	chr9:73789760-73789761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560389087	chr9:73789787-73789788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs527746031	chr9:73789799-73789800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190978914	chr9:73789808-73789809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567624337	chr9:73789815-73789816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183256745	chr9:73789848-73789849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568695429	chr9:73789853-73789854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549649148	chr9:73789857-73789858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574170041	chr9:73789860-73789861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538443250	chr9:73789907-73789908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370767306	chr9:73789936-73789937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553884511	chr9:73789948-73789949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs189857372	chr9:73791826-73791827	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35477440	chr9:73791836-73791837	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2174307	chr9:73791849-73791850	Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559593023	chr9:73791864-73791865	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545914826	chr9:73791869-73791870	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369211870	chr9:73791923-73791924	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372941592	chr9:73791943-73791944	Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542062769	chr9:73792018-73792019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563448285	chr9:73792032-73792033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs145713308	chr9:73792037-73792038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs137984109	chr9:73792042-73792043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553532838	chr9:73792054-73792055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192800427	chr9:73792086-73792087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs7873451	chr9:73792122-73792123	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546233721	chr9:73792131-73792132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs542558206	chr9:73792172-73792173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs74864865	chr9:73792188-73792189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562214014	chr9:73792211-73792212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554764323	chr9:73792216-73792217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569891437	chr9:73792244-73792245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531055324	chr9:73792291-73792292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537180056	chr9:73792373-73792374	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11142715	chr9:73792400-73792401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549836530	chr9:73792405-73792406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7862622	chr9:73792410-73792411	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs577212379	chr9:73792465-73792466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144089594	chr9:73792466-73792467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553060279	chr9:73792480-73792481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs147562506	chr9:73792490-73792491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574700850	chr9:73792499-73792500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542126012	chr9:73792514-73792515	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs370440841	chr9:73792525-73792526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs386734885	chr9:73792527-73792528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs71489080	chr9:73792531-73792532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184852415	chr9:73792534-73792535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs71483597	chr9:73792539-73792540	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Malignant melanoma	17260012	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Intellectual disability	22102821	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73788400-73790000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr9:73788600-73789800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr9:73791800-73792000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr9:73791800-73792000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr9:73791800-73792000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr9:73791800-73792000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:73791800-73794000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr9:73792200-73794200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:73792800-73793000	Enhancers	Rectal Mucosa Donor 31	rectum
10	chr9:73793200-73794200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr9:73794000-73794400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:73794000-73794400	Active TSS	Brain Anterior Caudate	brain
13	chr9:73794000-73794600	Enhancers	Fetal Intestine Small	intestine
14	chr9:73794200-73794600	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr9:73794200-73797800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr9:73794400-73794600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:73794600-73797600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:73797600-73798000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:73797800-73799400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr9:73798000-73798400	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr9:73798000-73798400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr9:73798000-73799000	Enhancers	Primary hematopoietic stem cells	blood
23	chr9:73798400-73799200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr9:73798800-73809400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr9:73809400-73809600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:73824400-73825000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr9:73824600-73825000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr9:73824600-73825200	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr9:73824800-73825200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr9:73824800-73825200	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr9:73825000-73825200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr9:73825000-73833000	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr9:73830000-73830400	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr9:73830200-73831400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:73830400-73831000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr9:73830400-73833600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr9:73830800-73831000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr9:73831000-73833800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr9:73831400-73833600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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