Variant report

Variant	esv3370240
Chromosome Location	chr7:3348870-3349231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:3349154..3351811-chr7:3384855..3387148,2	MCF-7	breast:
2	chr7:3349072..3350762-chr7:3354639..3356462,2	K562	blood:
3	chr7:3342709..3344229-chr7:3346065..3349002,2	K562	blood:
4	chr7:3348530..3349530-chr7:3439336..3440173,5	MCF-7	breast:
5	chr7:3348413..3349355-chr7:3439267..3440144,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73286353	chr7:3348883-3348884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574881290	chr7:3348884-3348885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs1525555	chr7:3348903-3348904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118112498	chr7:3348905-3348906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs75935934	chr7:3348927-3348928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs73286356	chr7:3348930-3348931	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113320155	chr7:3348974-3348975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs537694544	chr7:3348984-3348985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377519039	chr7:3348988-3348989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34437244	chr7:3349002-3349003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576416179	chr7:3349003-3349004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs61266092	chr7:3349010-3349011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs74580205	chr7:3349016-3349017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs62437667	chr7:3349018-3349019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139515609	chr7:3349111-3349112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182133143	chr7:3349129-3349130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs71550397	chr7:3349156-3349157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs59762021	chr7:3349174-3349175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12700786	chr7:3349185-3349186	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73286357	chr7:3349209-3349210	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117710610	chr7:3349224-3349225	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
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
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3343800-3357000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr7:3344600-3366600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:3344800-3354600	Weak transcription	Pancreas	Pancrea
4	chr7:3346200-3362400	Weak transcription	Aorta	Aorta
5	chr7:3347000-3350000	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:3347400-3349800	Weak transcription	Adipose Nuclei	Adipose
7	chr7:3347600-3349600	Weak transcription	Fetal Brain Male	brain

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