Variant report

Variant	nsv982160
Chromosome Location	chr9:22340934-22342292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:22341545..22344630-chr9:22445904..22448920,6	MCF-7	breast:
2	chr9:22340256..22342869-chr9:22344795..22348562,3	MCF-7	breast:
3	chr9:22332925..22335783-chr9:22341287..22343455,2	MCF-7	breast:
4	chr9:22341942..22344715-chr9:22446110..22447985,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176399	chromatin interactions

Extended variants
information (count: 62 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201083075	chr9:22340944-22340945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs367991781	chr9:22340967-22340968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs558941881	chr9:22340971-22340972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572249856	chr9:22340985-22340986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534773743	chr9:22341042-22341043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117875461	chr9:22341056-22341057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574400691	chr9:22341074-22341075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114455439	chr9:22341103-22341104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139637400	chr9:22341104-22341105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560431117	chr9:22341123-22341124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546065697	chr9:22341171-22341172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559652857	chr9:22341174-22341175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528776683	chr9:22341194-22341195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548347790	chr9:22341221-22341222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs34727559	chr9:22341248-22341249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572672561	chr9:22341266-22341267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562311480	chr9:22341268-22341269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530868339	chr9:22341276-22341277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569277482	chr9:22341305-22341306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187413014	chr9:22341341-22341342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570756522	chr9:22341356-22341357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118020124	chr9:22341363-22341364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552486077	chr9:22341374-22341375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565949988	chr9:22341377-22341378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75583364	chr9:22341433-22341434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536833216	chr9:22341447-22341448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs570861025	chr9:22341484-22341485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536744117	chr9:22341587-22341588	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs10757308	chr9:22341594-22341595	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs576746669	chr9:22341599-22341600	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs147637919	chr9:22341603-22341604	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs191804615	chr9:22341647-22341648	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs10965326	chr9:22341666-22341667	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs10965327	chr9:22341705-22341706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181864341	chr9:22341760-22341761	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs369414792	chr9:22341788-22341789	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs531185328	chr9:22341792-22341793	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186430310	chr9:22341873-22341874	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553904855	chr9:22341903-22341904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs369728471	chr9:22341904-22341905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs190005808	chr9:22341912-22341913	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs140903303	chr9:22341918-22341919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs546966776	chr9:22341966-22341967	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs371165651	chr9:22342004-22342005	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs182591218	chr9:22342015-22342016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs377439616	chr9:22342020-22342021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs149770584	chr9:22342035-22342036	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145678367	chr9:22342040-22342041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs186516428	chr9:22342054-22342055	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537285271	chr9:22342055-22342056	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	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
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Cancer	22183965	CNVD
Glioblastoma multiforme	21569311	CNVD
Myelofibrosis	22110671	CNVD
Ewing''s sarcoma	22429812	CNVD
Neuroblastoma	21899760	CNVD
Glioblastoma multiforme	19435819	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	22291905	CNVD
Lung cancer	21911935	CNVD
Primary central nervous system lymphoma	21088137	CNVD
head and neck squamous cell carcinoma	21798897	CNVD
Cancer	21253487	CNVD
Glioblastoma multiforme	22286061	CNVD
Intracranial ependymoma	16609018	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Urothelial cell carcinoma	18451213	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Leukemia	19602459	CNVD
Acute monocytic leukemia	16498392	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Leukemia	18688285	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Glioma	20126413	CNVD
Melanoma	17363583	CNVD
Glioblastoma multiforme	19115005	CNVD
Glioblastoma multiforme	21138945	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Cancer	20581869	CNVD
Oral cancer	22144094	CNVD
Barrett''s syndrome	19417022	CNVD
Cancer	20164920	CNVD
Breast cancer	17142309	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:22318000-22342400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:22341600-22344400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr9:22341800-22342400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:22341800-22342400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:22341800-22343200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:22342000-22342400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:22342000-22343400	Enhancers	A549	lung
8	chr9:22342000-22343400	Enhancers	NH-A	brain
9	chr9:22342000-22343600	Enhancers	HSMM	muscle
10	chr9:22342000-22343600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links