Variant report

Variant	esv1797136
Chromosome Location	chr7:3734421-3736254
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	chr7:3734945..3735889-chr7:3936899..3937757,3	MCF-7	breast:
2	chr7:3726774..3729602-chr7:3732139..3735055,2	K562	blood:

Extended variants
information (count: 112 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17256676	chr7:3734421-3734422	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183683355	chr7:3734425-3734426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116958357	chr7:3734435-3734436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150570887	chr7:3734460-3734461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539415967	chr7:3734472-3734473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138585194	chr7:3734502-3734503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs115680336	chr7:3734511-3734512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs149601524	chr7:3734526-3734527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569824158	chr7:3734528-3734529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537403259	chr7:3734572-3734573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549128603	chr7:3734639-3734640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567913860	chr7:3734646-3734647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs565033747	chr7:3734655-3734656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6970486	chr7:3734660-3734661	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs114128801	chr7:3734666-3734667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543692056	chr7:3734677-3734678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563989482	chr7:3734683-3734684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553752194	chr7:3734685-3734686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188300248	chr7:3734690-3734691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13310805	chr7:3734698-3734699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs559488700	chr7:3734731-3734732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs147260152	chr7:3734740-3734741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548715285	chr7:3734755-3734756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568602328	chr7:3734764-3734765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140724940	chr7:3734781-3734782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113789186	chr7:3734790-3734791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs539247958	chr7:3734815-3734816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199712123	chr7:3734829-3734830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112758409	chr7:3734837-3734838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs557050908	chr7:3734860-3734861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs551016324	chr7:3734890-3734891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566153391	chr7:3734897-3734898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535144873	chr7:3734909-3734910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555031621	chr7:3734967-3734968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs575025859	chr7:3734978-3734979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543995560	chr7:3734987-3734988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575266081	chr7:3735065-3735066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557278311	chr7:3735089-3735090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577418071	chr7:3735093-3735094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546199569	chr7:3735116-3735117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs182235290	chr7:3735129-3735130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528477358	chr7:3735153-3735154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542270714	chr7:3735186-3735187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187395402	chr7:3735206-3735207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34513611	chr7:3735221-3735222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372032518	chr7:3735233-3735234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10282067	chr7:3735237-3735238	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs114053895	chr7:3735238-3735239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191843323	chr7:3735291-3735292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs570558456	chr7:3735362-3735363	Weak transcription Enhancers	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3722200-3738000	Weak transcription	Pancreas	Pancrea
2	chr7:3728800-3735800	Weak transcription	Aorta	Aorta
3	chr7:3731400-3736800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:3733200-3735200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr7:3735200-3735600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr7:3735800-3736000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:3735800-3736000	ZNF genes & repeats	Aorta	Aorta
8	chr7:3736000-3736200	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr7:3736000-3762200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:3736000-3764400	Weak transcription	Aorta	Aorta
11	chr7:3736200-3738600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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