Variant report

Variant	esv3423421
Chromosome Location	chr7:3273126-3277324
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3255775..3258559-chr7:3276222..3279313,3	MCF-7	breast:
2	chr7:3272491..3276076-chr7:3339000..3342579,3	MCF-7	breast:
3	chr7:3256947..3259532-chr7:3270807..3273199,2	MCF-7	breast:
4	chr7:3276084..3280543-chr7:3282350..3285635,4	MCF-7	breast:
5	chr1:192410577..192412599-chr7:3273666..3275762,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146555	chromatin interactions
ENSG00000236708	chromatin interactions

Extended variants
information (count: 223 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:223 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564138457	chr7:3273135-3273136	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs532803785	chr7:3273196-3273197	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs540477688	chr7:3273198-3273199	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560465782	chr7:3273242-3273243	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs529094026	chr7:3273252-3273253	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs549240019	chr7:3273263-3273264	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs79393048	chr7:3273280-3273281	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs531054461	chr7:3273315-3273316	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs547974425	chr7:3273317-3273318	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs570791681	chr7:3273348-3273349	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs539460074	chr7:3273360-3273361	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs553584728	chr7:3273402-3273403	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs76333818	chr7:3273440-3273441	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs34335106	chr7:3273444-3273445	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs555578025	chr7:3273489-3273490	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs540614418	chr7:3273490-3273491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs138343231	chr7:3273499-3273500	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs557575940	chr7:3273510-3273511	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs375596178	chr7:3273511-3273512	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375619572	chr7:3273521-3273522	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs369650431	chr7:3273531-3273532	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs150617033	chr7:3273532-3273533	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs138743642	chr7:3273567-3273568	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560462632	chr7:3273569-3273570	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs370433347	chr7:3273601-3273602	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs542821110	chr7:3273602-3273603	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs181646298	chr7:3273616-3273617	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs149348967	chr7:3273658-3273659	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs565932828	chr7:3273667-3273668	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs570861832	chr7:3273672-3273673	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373442195	chr7:3273688-3273689	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs533357941	chr7:3273693-3273694	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs144854711	chr7:3273694-3273695	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs566811227	chr7:3273713-3273714	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs535776590	chr7:3273715-3273716	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs574713719	chr7:3273722-3273723	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs368172597	chr7:3273730-3273731	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs184496102	chr7:3273795-3273796	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs538056358	chr7:3273821-3273822	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs201865357	chr7:3273828-3273829	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs368976054	chr7:3273832-3273833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs140174594	chr7:3273836-3273837	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs145569935	chr7:3273852-3273853	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373173582	chr7:3273867-3273868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs573700981	chr7:3273886-3273887	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs147291298	chr7:3273906-3273907	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs562782450	chr7:3273960-3273961	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs576141564	chr7:3273979-3273980	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs544921834	chr7:3273983-3273984	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs564595287	chr7:3273992-3273993	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Urothelial carcinoma	21177765	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
Nasopharyngeal cancer	20548289	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3272000-3273200	Weak transcription	Right Atrium	heart
2	chr7:3272600-3273200	Enhancers	Primary T cells from cord blood	blood
3	chr7:3273000-3273400	Enhancers	Aorta	Aorta
4	chr7:3273000-3273400	Enhancers	Fetal Heart	heart
5	chr7:3273200-3274000	Enhancers	Right Atrium	heart
6	chr7:3273400-3275600	Weak transcription	Aorta	Aorta
7	chr7:3274400-3275000	Weak transcription	Fetal Lung	lung
8	chr7:3274800-3275200	Active TSS	NHDF-Ad	bronchial
9	chr7:3275000-3275400	ZNF genes & repeats	Gastric	stomach
10	chr7:3275600-3276000	ZNF genes & repeats	Aorta	Aorta
11	chr7:3276000-3278600	Weak transcription	Aorta	Aorta
12	chr7:3276800-3282800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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