Variant report

Variant	nsv614605
Chromosome Location	chr9:73887092-73915883
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:73898945..73901446-chr9:74374124..74376228,2	MCF-7	breast:
2	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
3	chr9:73888188..73889825-chr9:73892226..73894815,2	K562	blood:
4	chr9:73900156..73900815-chr9:74383864..74384765,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf85-8	chr9:73894862-73895070	l_3783_chr9:73865405-73895070_testes

Extended variants
information (count: 1063 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:1063 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11142769	chr9:73887092-73887093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142950014	chr9:73887095-73887096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528952295	chr9:73887096-73887097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145130279	chr9:73887097-73887098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537938704	chr9:73887141-73887142	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs139006895	chr9:73887142-73887143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568694356	chr9:73887184-73887185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185735726	chr9:73887192-73887193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs551355767	chr9:73887231-73887232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571529622	chr9:73887278-73887279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557796439	chr9:73887344-73887345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs11142770	chr9:73887372-73887373	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs562990265	chr9:73887481-73887482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142272431	chr9:73887577-73887578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs536728972	chr9:73887601-73887602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs72614631	chr9:73887647-73887648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144349439	chr9:73887654-73887655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs144662981	chr9:73887684-73887685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148510737	chr9:73887694-73887695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553761459	chr9:73887722-73887723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112170792	chr9:73887751-73887752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74673260	chr9:73887808-73887809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141868299	chr9:73887844-73887845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574244024	chr9:73887877-73887878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189157284	chr9:73887881-73887882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2062863	chr9:73887947-73887948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs528889893	chr9:73887952-73887953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs542279258	chr9:73887992-73887993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562261598	chr9:73888006-73888007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150640272	chr9:73888068-73888069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551546422	chr9:73888239-73888240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571401464	chr9:73888242-73888243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs140859478	chr9:73888299-73888300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181836899	chr9:73888338-73888339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185989855	chr9:73888365-73888366	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144395940	chr9:73888380-73888381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11142771	chr9:73888408-73888409	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs111529337	chr9:73888411-73888412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs190403141	chr9:73888485-73888486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559102504	chr9:73888556-73888557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs572579156	chr9:73888587-73888588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147832287	chr9:73888588-73888589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs554856652	chr9:73888598-73888599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573270539	chr9:73888633-73888634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs542216508	chr9:73888667-73888668	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs6560193	chr9:73888674-73888675	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs139738421	chr9:73888709-73888710	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544805815	chr9:73888723-73888724	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564139995	chr9:73888871-73888872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs565077176	chr9:73888883-73888884	Weak transcription 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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:73882200-73887600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:73884000-73887600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:73884400-73887200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr9:73886600-73887200	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr9:73886600-73889000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:73887200-73889600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr9:73887200-73900200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr9:73887600-73889000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:73887600-73893200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:73888000-73889600	Enhancers	HepG2	liver
11	chr9:73888200-73888600	Enhancers	Stomach Mucosa	stomach
12	chr9:73888400-73888800	Enhancers	Liver	Liver
13	chr9:73888400-73888800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr9:73888800-73889800	Enhancers	Primary hematopoietic stem cells	blood
15	chr9:73888800-73893000	Weak transcription	Liver	Liver
16	chr9:73889000-73889600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:73889000-73889600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr9:73889000-73890000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:73889000-73890400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr9:73889600-73890000	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr9:73889600-73893000	Weak transcription	HepG2	liver
22	chr9:73893000-73893200	Enhancers	Liver	Liver
23	chr9:73893000-73896400	Enhancers	HepG2	liver
24	chr9:73893200-73893400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:73893200-73893600	Flanking Active TSS	Liver	Liver
26	chr9:73893600-73894200	Enhancers	Liver	Liver
27	chr9:73894200-73894600	Flanking Active TSS	Liver	Liver
28	chr9:73894600-73894800	Active TSS	Liver	Liver
29	chr9:73894800-73895000	Flanking Active TSS	Liver	Liver
30	chr9:73895000-73895200	Enhancers	Liver	Liver
31	chr9:73895200-73900200	Weak transcription	Liver	Liver
32	chr9:73896000-73896400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr9:73896400-73900400	Weak transcription	HepG2	liver
34	chr9:73900000-73900200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr9:73900000-73900200	Enhancers	Brain Hippocampus Middle	brain
36	chr9:73900000-73900200	Enhancers	Brain Substantia Nigra	brain
37	chr9:73900000-73900600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:73900000-73901400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:73900200-73900600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr9:73900200-73900600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:73900200-73900600	Flanking Active TSS	Liver	Liver
42	chr9:73900200-73900600	Active TSS	Brain Hippocampus Middle	brain
43	chr9:73900200-73900600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr9:73900200-73900600	Active TSS	Brain Substantia Nigra	brain
45	chr9:73900200-73900600	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr9:73900200-73900600	Active TSS	Osteobl	bone
47	chr9:73900200-73900800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr9:73900200-73900800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:73900200-73900800	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr9:73900200-73900800	Enhancers	Aorta	Aorta

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