Variant report

Variant	esv3326192
Chromosome Location	chr7:4323547-4323941
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	chr7:4306283..4308245-chr7:4322606..4324838,2	MCF-7	breast:
2	chr7:4171607..4173163-chr7:4322084..4324253,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367674460	chr7:4323569-4323570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549238492	chr7:4323571-4323572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569550060	chr7:4323581-4323582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182454400	chr7:4323586-4323587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551956930	chr7:4323611-4323612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs571650043	chr7:4323628-4323629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189115954	chr7:4323654-4323655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547787859	chr7:4323657-4323658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs140335733	chr7:4323664-4323665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536659573	chr7:4323667-4323668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs190865912	chr7:4323674-4323675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs150344755	chr7:4323701-4323702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6944956	chr7:4323733-4323734	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs183045802	chr7:4323738-4323739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10268536	chr7:4323741-4323742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540756263	chr7:4323742-4323743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10268540	chr7:4323762-4323763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10268542	chr7:4323765-4323766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543416837	chr7:4323767-4323768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369980309	chr7:4323818-4323819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562995670	chr7:4323822-4323823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532080722	chr7:4323828-4323829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs13221179	chr7:4323865-4323866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13247468	chr7:4323866-4323867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6958495	chr7:4323871-4323872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13235162	chr7:4323875-4323876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13235165	chr7:4323877-4323878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551676449	chr7:4323883-4323884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13247473	chr7:4323885-4323886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13221189	chr7:4323906-4323907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs13247484	chr7:4323909-4323910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187667777	chr7:4323916-4323917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4322600-4325800	Weak transcription	Fetal Brain Male	brain

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