Variant report

Variant	esv1798563
Chromosome Location	chr7:7057830-7062903
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	chr7:7053634..7055657-chr7:7056741..7058413,2	MCF-7	breast:

Extended variants
information (count: 142 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:142 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4409319	chr7:7057830-7057831	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559104400	chr7:7057851-7057852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78522534	chr7:7057861-7057862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs386709881	chr7:7057879-7057880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12702558	chr7:7057886-7057887	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs187337058	chr7:7057921-7057922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73676479	chr7:7057948-7057949	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs191964259	chr7:7057970-7057971	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530227566	chr7:7057972-7057973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564423896	chr7:7057990-7057991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148790831	chr7:7057998-7057999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566609928	chr7:7058016-7058017	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184563972	chr7:7058039-7058040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs4470925	chr7:7058052-7058053	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189324919	chr7:7058059-7058060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538930289	chr7:7058119-7058120	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556927048	chr7:7058168-7058169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182203933	chr7:7058183-7058184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs143641624	chr7:7058195-7058196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554741469	chr7:7058210-7058211	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112171723	chr7:7058248-7058249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10257299	chr7:7058258-7058259	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564911175	chr7:7058275-7058276	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs4236398	chr7:7058322-7058323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs544936329	chr7:7058324-7058325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4724914	chr7:7058342-7058343	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs78659121	chr7:7058343-7058344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548351928	chr7:7058346-7058347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs566695165	chr7:7058380-7058381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527793662	chr7:7058385-7058386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552345219	chr7:7058414-7058415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185788678	chr7:7058423-7058424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4724915	chr7:7058424-7058425	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs4724916	chr7:7058467-7058468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs578214683	chr7:7058515-7058516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs569159799	chr7:7058521-7058522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189098958	chr7:7058534-7058535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181063485	chr7:7058572-7058573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs77943997	chr7:7058578-7058579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533896900	chr7:7058580-7058581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558322581	chr7:7058601-7058602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4236399	chr7:7058628-7058629	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs543847147	chr7:7058645-7058646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562869178	chr7:7058661-7058662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4236400	chr7:7058672-7058673	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs186346461	chr7:7058691-7058692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560322000	chr7:7058703-7058704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57296842	chr7:7058704-7058705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560933357	chr7:7058725-7058726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs77063666	chr7:7058728-7058729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21045282	CNVD
Disorders of sex development	21048976	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7052400-7060600	Weak transcription	Duodenum Mucosa	Duodenum
2	chr7:7052600-7058200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:7057200-7058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:7057200-7058400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:7057400-7058400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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