Variant report

Variant	nsv1034128
Chromosome Location	chr9:754702-805002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:18)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:613644..614435-chr9:753933..755128,3	MCF-7	breast:
2	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
3	chr9:385566..386417-chr9:764222..764740,2	MCF-7	breast:
4	chr9:757453..760203-chr9:763946..765702,2	MCF-7	breast:
5	chr9:763806..764607-chr9:806256..807153,5	MCF-7	breast:
6	chr9:710784..713169-chr9:756222..759004,2	MCF-7	breast:
7	chr9:613541..614622-chr9:757205..758240,10	MCF-7	breast:
8	chr9:613026..614583-chr9:763698..764753,25	MCF-7	breast:
9	chr9:613348..614490-chr9:763793..765061,13	MCF-7	breast:
10	chr9:796752..799581-chr9:806597..809420,2	MCF-7	breast:
11	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
12	chr9:581871..582698-chr9:763741..764739,5	MCF-7	breast:
13	chr9:763791..764994-chr9:806035..807196,9	MCF-7	breast:
14	chr9:581769..582694-chr9:763829..764743,4	MCF-7	breast:
15	chr9:613586..614504-chr9:756894..758172,6	MCF-7	breast:
16	chr9:782884..784766-chr9:785783..787661,2	MCF-7	breast:
17	chr9:801986..804534-chr9:805350..807829,2	MCF-7	breast:
18	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf66-5	chr9:755232-755507	XLOC_007629
2	lnc-C9orf66-4	chr9:761299-761551	XLOC_007628

No data

Variant related genes	Relation type
FAM123B	miRNA target sites

Extended variants
information (count: 2533 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2533 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6477204	chr9:754702-754703	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs537787091	chr9:754736-754737	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557346321	chr9:754760-754761	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538252903	chr9:754764-754765	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146284162	chr9:754773-754774	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538268066	chr9:754777-754778	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs117538938	chr9:754792-754793	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183524522	chr9:754803-754804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148476631	chr9:754804-754805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs12003349	chr9:754832-754833	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191719055	chr9:754850-754851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543342120	chr9:754859-754860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577932960	chr9:754865-754866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563419573	chr9:754869-754870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112415323	chr9:754937-754938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs572563061	chr9:754938-754939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7867004	chr9:754947-754948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79453012	chr9:754956-754957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186822646	chr9:755013-755014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12005362	chr9:755034-755035	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548697482	chr9:755043-755044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568697321	chr9:755044-755045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139520998	chr9:755048-755049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112632011	chr9:755077-755078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12003770	chr9:755104-755105	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs149680405	chr9:755137-755138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs16935794	chr9:755147-755148	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs545940318	chr9:755171-755172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377140655	chr9:755218-755219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369517382	chr9:755220-755221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373491346	chr9:755221-755222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551899147	chr9:755242-755243	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs192283495	chr9:755250-755251	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs534461325	chr9:755270-755271	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs147935905	chr9:755271-755272	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs75269569	chr9:755281-755282	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs185829924	chr9:755292-755293	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs141714293	chr9:755298-755299	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs73376700	chr9:755322-755323	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs559831504	chr9:755352-755353	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs573251191	chr9:755362-755363	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs55753006	chr9:755389-755390	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs11787650	chr9:755391-755392	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
44	rs530995433	chr9:755404-755405	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs550895630	chr9:755425-755426	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs56278168	chr9:755426-755427	Weak transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs533499176	chr9:755443-755444	Weak transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs547269928	chr9:755542-755543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs565366508	chr9:755543-755544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534303837	chr9:755566-755567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	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
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
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
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	20808231	CNVD
Obesity	20808231	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Cancer	21272361	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:742000-756000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:743400-756000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr9:745600-755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:745600-761000	Weak transcription	Ovary	ovary
5	chr9:745600-763800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr9:745800-757600	Weak transcription	Gastric	stomach
7	chr9:746400-756000	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:747600-755800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr9:749400-756400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:749600-755800	Weak transcription	Spleen	Spleen
11	chr9:749600-763600	Weak transcription	Stomach Smooth Muscle	stomach
12	chr9:750600-755600	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:750600-755800	Weak transcription	Fetal Intestine Large	intestine
14	chr9:751000-755400	Weak transcription	Fetal Intestine Small	intestine
15	chr9:751000-755600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr9:751200-754800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr9:751600-754800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr9:751600-755000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr9:751600-755800	Weak transcription	Pancreas	Pancrea
20	chr9:751800-760800	Weak transcription	Brain Angular Gyrus	brain
21	chr9:752000-755600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr9:752000-755600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr9:752000-755600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr9:752000-755800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr9:752000-755800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr9:752000-755800	Weak transcription	Esophagus	oesophagus
27	chr9:752000-756000	Weak transcription	Thymus	Thymus
28	chr9:752000-760400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr9:752000-760400	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr9:752000-760600	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:752000-764000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr9:752200-755400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:752200-755400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:752200-755600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr9:752200-755600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:752200-755600	Weak transcription	Hela-S3	cervix
37	chr9:752200-755800	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:752200-755800	Weak transcription	Right Atrium	heart
39	chr9:752200-755800	Weak transcription	Right Ventricle	heart
40	chr9:752200-756000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr9:752200-761400	Weak transcription	Brain Anterior Caudate	brain
42	chr9:752200-764000	Weak transcription	Aorta	Aorta
43	chr9:752400-755000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr9:752400-755600	Weak transcription	Primary hematopoietic stem cells	blood
45	chr9:752600-755600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:752600-756000	Weak transcription	HSMMtube	muscle
47	chr9:753000-755600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr9:753000-755600	Weak transcription	HSMM	muscle
49	chr9:753000-755800	Weak transcription	A549	lung
50	chr9:753000-756000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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