Variant report

Variant	esv3338310
Chromosome Location	chr7:4090076-4091524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
2	chr7:4082285..4084220-chr7:4087738..4090486,2	K562	blood:
3	chr7:4088154..4090375-chr7:4090451..4092964,2	MCF-7	breast:
4	chr7:4091304..4093218-chr7:4095226..4096867,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191161166	chr7:4090091-4090092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117933742	chr7:4090092-4090093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs146987425	chr7:4090101-4090102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548558761	chr7:4090140-4090141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs568579438	chr7:4090184-4090185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs28458813	chr7:4090194-4090195	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs371758400	chr7:4090196-4090197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552506985	chr7:4090234-4090235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs183823091	chr7:4090242-4090243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75522265	chr7:4090263-4090264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10485860	chr7:4090283-4090284	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111585742	chr7:4090335-4090336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572754681	chr7:4090431-4090432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116060444	chr7:4090449-4090450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147607521	chr7:4090484-4090485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575043962	chr7:4090487-4090488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs116303559	chr7:4090495-4090496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376766942	chr7:4090503-4090504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113708797	chr7:4090518-4090519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs150417732	chr7:4090531-4090532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs371862277	chr7:4090559-4090560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10263906	chr7:4090576-4090577	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs113194698	chr7:4090599-4090600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201856493	chr7:4090614-4090615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560095304	chr7:4090701-4090702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs528757071	chr7:4090706-4090707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548646113	chr7:4090733-4090734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200097318	chr7:4090758-4090759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568440099	chr7:4090772-4090773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs568099256	chr7:4090798-4090799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201245681	chr7:4090890-4090891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187942279	chr7:4090930-4090931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192505433	chr7:4090979-4090980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535727318	chr7:4091033-4091034	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539623097	chr7:4091061-4091062	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552710078	chr7:4091211-4091212	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs375181074	chr7:4091220-4091221	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376536198	chr7:4091230-4091231	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371360577	chr7:4091258-4091259	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs184191206	chr7:4091261-4091262	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200737541	chr7:4091262-4091263	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs554974460	chr7:4091272-4091273	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144270124	chr7:4091283-4091284	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs151201149	chr7:4091284-4091285	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs377278507	chr7:4091293-4091294	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537410227	chr7:4091296-4091297	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557858270	chr7:4091307-4091308	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140259802	chr7:4091315-4091316	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs150377995	chr7:4091318-4091319	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145040773	chr7:4091322-4091323	Strong transcription Weak transcription Enhancers Genic 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
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
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4059000-4091200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:4066800-4091200	Weak transcription	Pancreas	Pancrea
3	chr7:4078000-4091200	Weak transcription	Aorta	Aorta
4	chr7:4082400-4091200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr7:4082800-4097000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr7:4084000-4092800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:4087400-4096600	Weak transcription	Gastric	stomach
8	chr7:4087600-4111800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:4088800-4129400	Weak transcription	Right Ventricle	heart
10	chr7:4089000-4090200	Enhancers	Fetal Brain Male	brain
11	chr7:4089200-4091200	Weak transcription	Spleen	Spleen
12	chr7:4089400-4091000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:4089400-4091600	Weak transcription	Esophagus	oesophagus
14	chr7:4089800-4090200	Enhancers	Fetal Stomach	stomach
15	chr7:4089800-4090200	Enhancers	HepG2	liver
16	chr7:4090000-4090200	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr7:4090000-4090400	Enhancers	Pancreatic Islets	Pancreatic Islet
18	chr7:4090000-4096600	Weak transcription	Fetal Lung	lung
19	chr7:4090200-4091200	Weak transcription	Fetal Stomach	stomach
20	chr7:4090200-4091400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr7:4090400-4092800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:4090600-4092800	Weak transcription	Left Ventricle	heart
23	chr7:4091000-4093200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:4091200-4091800	Genic enhancers	Spleen	Spleen
25	chr7:4091200-4092000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:4091200-4092000	Strong transcription	Aorta	Aorta
27	chr7:4091200-4093000	Enhancers	Fetal Muscle Trunk	muscle
28	chr7:4091200-4093200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr7:4091200-4093200	Enhancers	Fetal Muscle Leg	muscle
30	chr7:4091200-4093200	Enhancers	Fetal Stomach	stomach
31	chr7:4091200-4093400	Strong transcription	Pancreas	Pancrea
32	chr7:4091400-4091800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:4091400-4092000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived

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