Variant report

Variant	nsv520034
Chromosome Location	chr7:4235923-4237801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 130 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:130 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs676609	chr7:4235923-4235924	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs375210143	chr7:4235937-4235938	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566079172	chr7:4235991-4235992	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528530742	chr7:4236006-4236007	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs548147435	chr7:4236025-4236026	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568349492	chr7:4236038-4236039	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs733689	chr7:4236043-4236044	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs559617056	chr7:4236086-4236087	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371722305	chr7:4236092-4236093	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376863248	chr7:4236093-4236094	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs76082754	chr7:4236098-4236099	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76690325	chr7:4236104-4236105	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536400771	chr7:4236143-4236144	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560655183	chr7:4236153-4236154	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs673396	chr7:4236164-4236165	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552696177	chr7:4236177-4236178	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572740970	chr7:4236180-4236181	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541817023	chr7:4236181-4236182	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554916826	chr7:4236184-4236185	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs138672234	chr7:4236218-4236219	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115732531	chr7:4236224-4236225	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35906207	chr7:4236229-4236230	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs186910258	chr7:4236245-4236246	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191810085	chr7:4236250-4236251	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs546313036	chr7:4236258-4236259	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116198353	chr7:4236259-4236260	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs79111426	chr7:4236289-4236290	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111883907	chr7:4236294-4236295	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs548588429	chr7:4236300-4236301	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs672566	chr7:4236333-4236334	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs530816515	chr7:4236340-4236341	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7792227	chr7:4236341-4236342	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs569119220	chr7:4236368-4236369	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570307623	chr7:4236397-4236398	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539288719	chr7:4236407-4236408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs77087297	chr7:4236413-4236414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs566563987	chr7:4236416-4236417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377656931	chr7:4236418-4236419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs535076467	chr7:4236429-4236430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555328059	chr7:4236438-4236439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575160678	chr7:4236443-4236444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs537737962	chr7:4236451-4236452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs557730195	chr7:4236455-4236456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs577476752	chr7:4236465-4236466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546425314	chr7:4236470-4236471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559567385	chr7:4236480-4236481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs371335563	chr7:4236492-4236493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs541991451	chr7:4236502-4236503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs11769608	chr7:4236525-4236526	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs144566250	chr7:4236554-4236555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4229000-4240000	Weak transcription	Fetal Lung	lung
2	chr7:4229400-4244400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr7:4229800-4268400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:4230000-4245600	Weak transcription	Pancreas	Pancrea
5	chr7:4230400-4237200	Weak transcription	Fetal Intestine Small	intestine
6	chr7:4230600-4242600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:4231000-4239800	Weak transcription	Fetal Stomach	stomach
8	chr7:4231200-4238600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4231600-4239800	Weak transcription	Right Atrium	heart
10	chr7:4233000-4236600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr7:4234800-4236800	Enhancers	Esophagus	oesophagus
12	chr7:4235000-4236000	Enhancers	Fetal Muscle Leg	muscle
13	chr7:4235000-4236200	Enhancers	Fetal Muscle Trunk	muscle
14	chr7:4235200-4236000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:4235400-4236400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:4235600-4236000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:4235600-4240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:4235800-4236400	Enhancers	Spleen	Spleen
19	chr7:4235800-4287200	Weak transcription	Gastric	stomach
20	chr7:4236000-4236200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:4236000-4240000	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:4236200-4241400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:4236400-4237400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:4236400-4237600	Weak transcription	Spleen	Spleen
25	chr7:4236600-4239600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr7:4236800-4237200	Weak transcription	Esophagus	oesophagus
27	chr7:4237200-4237400	Enhancers	Esophagus	oesophagus
28	chr7:4237200-4238200	Strong transcription	Fetal Intestine Small	intestine
29	chr7:4237400-4238000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr7:4237400-4239800	Weak transcription	Esophagus	oesophagus
31	chr7:4237600-4238000	Enhancers	Spleen	Spleen

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