Variant report

Variant	nsv521103
Chromosome Location	chr7:3860836-3868788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:3848437..3851053-chr7:3868632..3870528,2	MCF-7	breast:

Extended variants
information (count: 498 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:498 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2341959	chr7:3860836-3860837	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570084199	chr7:3860845-3860846	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs71524018	chr7:3860861-3860862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148357507	chr7:3860870-3860871	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs67807489	chr7:3860873-3860874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559814786	chr7:3860906-3860907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573358487	chr7:3860910-3860911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78854802	chr7:3860913-3860914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556005426	chr7:3860922-3860923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562277506	chr7:3860927-3860928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531024683	chr7:3860935-3860936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551239788	chr7:3860938-3860939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564652585	chr7:3860939-3860940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs533360682	chr7:3860943-3860944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs574287395	chr7:3860950-3860951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566881621	chr7:3860969-3860970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs535905260	chr7:3861023-3861024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372032373	chr7:3861032-3861033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368593218	chr7:3861063-3861064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs370075198	chr7:3861082-3861083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371315358	chr7:3861088-3861089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143959434	chr7:3861091-3861092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs368143955	chr7:3861096-3861097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201959269	chr7:3861112-3861113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs146423033	chr7:3861113-3861114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs139888545	chr7:3861115-3861116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199853513	chr7:3861116-3861117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs139540390	chr7:3861129-3861130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs59492170	chr7:3861136-3861137	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs200525638	chr7:3861142-3861143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201492847	chr7:3861148-3861149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs145830129	chr7:3861149-3861150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs148973866	chr7:3861181-3861182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188954051	chr7:3861183-3861184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs573321623	chr7:3861187-3861188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375534283	chr7:3861197-3861198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145476836	chr7:3861230-3861231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs369241949	chr7:3861232-3861233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs372714866	chr7:3861234-3861235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556017068	chr7:3861244-3861245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375744884	chr7:3861246-3861247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575771397	chr7:3861259-3861260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369867651	chr7:3861260-3861261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190961883	chr7:3861264-3861265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564791686	chr7:3861301-3861302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs533626663	chr7:3861305-3861306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10240325	chr7:3861333-3861334	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs529321474	chr7:3861342-3861343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs182839338	chr7:3861350-3861351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs6943646	chr7:3861353-3861354	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:80)

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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3848400-3882000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3849400-3880600	Weak transcription	Aorta	Aorta
3	chr7:3859800-3861000	Enhancers	Pancreas	Pancrea
4	chr7:3860400-3861000	Enhancers	Fetal Muscle Leg	muscle
5	chr7:3860800-3861200	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr7:3860800-3861400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:3860800-3861400	Enhancers	Adipose Nuclei	Adipose
8	chr7:3861000-3886400	Weak transcription	Pancreas	Pancrea
9	chr7:3861200-3865600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:3864000-3865600	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr7:3864000-3865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:3864200-3864800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:3864200-3865600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:3864200-3865600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:3864400-3865000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr7:3864400-3866000	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr7:3864600-3865400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:3864600-3865600	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:3864600-3865800	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr7:3864600-3866000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:3865000-3865400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:3865200-3866000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:3865400-3865800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr7:3865600-3866000	Enhancers	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links