Variant report

Variant	esv2320457
Chromosome Location	chr7:3519830-3520257
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560083557	chr7:3519838-3519839	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs117085684	chr7:3519844-3519845	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144595226	chr7:3519852-3519853	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs546716090	chr7:3519883-3519884	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs10234204	chr7:3519885-3519886	Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs530784832	chr7:3519904-3519905	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs190953751	chr7:3519905-3519906	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs184007203	chr7:3519907-3519908	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs533448734	chr7:3519912-3519913	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs547219183	chr7:3519936-3519937	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566907568	chr7:3519949-3519950	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs535555944	chr7:3519952-3519953	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555469839	chr7:3519954-3519955	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs568949099	chr7:3519970-3519971	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs138773798	chr7:3520017-3520018	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs557456109	chr7:3520023-3520024	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs73671843	chr7:3520024-3520025	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs540107264	chr7:3520034-3520035	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs145496871	chr7:3520042-3520043	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560761986	chr7:3520045-3520046	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188898686	chr7:3520055-3520056	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs114394106	chr7:3520057-3520058	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs561875355	chr7:3520084-3520085	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs571178033	chr7:3520089-3520090	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544635769	chr7:3520106-3520107	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs532288052	chr7:3520107-3520108	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564320786	chr7:3520123-3520124	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192399131	chr7:3520135-3520136	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs546939352	chr7:3520146-3520147	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs182920330	chr7:3520154-3520155	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs34542941	chr7:3520167-3520168	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs560684640	chr7:3520177-3520178	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs199858841	chr7:3520191-3520192	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs549580547	chr7:3520201-3520202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187548301	chr7:3520234-3520235	Weak transcription	n/a	n/a	Overlapped CNVs	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
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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3491200-3526600	Weak transcription	Pancreas	Pancrea
2	chr7:3502000-3521200	Weak transcription	Aorta	Aorta
3	chr7:3506200-3521000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:3512800-3522400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:3513000-3522000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:3516000-3521000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:3516000-3522200	Weak transcription	Fetal Lung	lung
8	chr7:3516600-3522200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:3519800-3520200	Active TSS	K562	blood
10	chr7:3520000-3520200	Enhancers	Spleen	Spleen

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