Variant report

Variant	esv11458
Chromosome Location	chr7:15413774-15418443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 294 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567463254	chr7:15413775-15413776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs145046506	chr7:15413785-15413786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs374198553	chr7:15413804-15413805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs368079445	chr7:15413808-15413809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550443526	chr7:15413814-15413815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535114568	chr7:15413823-15413824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549765591	chr7:15413834-15413835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76244553	chr7:15413857-15413858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558232780	chr7:15413864-15413865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs538627976	chr7:15413885-15413886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554151877	chr7:15413901-15413902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184158507	chr7:15413910-15413911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145822037	chr7:15413924-15413925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs539656003	chr7:15413953-15413954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576221435	chr7:15413961-15413962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs148974070	chr7:15413970-15413971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558940958	chr7:15413971-15413972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577490762	chr7:15413974-15413975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs548873654	chr7:15414002-15414003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375444466	chr7:15414006-15414007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs567149151	chr7:15414034-15414035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560166756	chr7:15414042-15414043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79041244	chr7:15414052-15414053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190010178	chr7:15414057-15414058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542733039	chr7:15414068-15414069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560973168	chr7:15414087-15414088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576306055	chr7:15414088-15414089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531357288	chr7:15414095-15414096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557447114	chr7:15414121-15414122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541785011	chr7:15414128-15414129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148155656	chr7:15414141-15414142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs532421493	chr7:15414183-15414184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547403197	chr7:15414201-15414202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565733755	chr7:15414205-15414206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561707865	chr7:15414219-15414220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs36124390	chr7:15414230-15414231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs68027748	chr7:15414231-15414232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs397745604	chr7:15414236-15414237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540723769	chr7:15414246-15414247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs554604937	chr7:15414264-15414265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569820109	chr7:15414285-15414286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78548435	chr7:15414293-15414294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75926541	chr7:15414294-15414295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73300363	chr7:15414295-15414296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs144084206	chr7:15414304-15414305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113780361	chr7:15414382-15414383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6965690	chr7:15414408-15414409	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs12530606	chr7:15414415-15414416	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs553740227	chr7:15414432-15414433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs112631438	chr7:15414456-15414457	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15403800-15413800	Weak transcription	Left Ventricle	heart
2	chr7:15405200-15414400	Weak transcription	Liver	Liver
3	chr7:15414400-15414600	Enhancers	Liver	Liver
4	chr7:15414600-15414800	Enhancers	Muscle Satellite Cultured Cells	--
5	chr7:15414600-15415000	Weak transcription	Liver	Liver
6	chr7:15414800-15415800	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr7:15415000-15416200	Enhancers	Liver	Liver
8	chr7:15415600-15416400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:15415600-15417200	Enhancers	Osteobl	bone
10	chr7:15415800-15417200	Enhancers	Muscle Satellite Cultured Cells	--
11	chr7:15416200-15417200	Flanking Active TSS	Liver	Liver
12	chr7:15416400-15416800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr7:15416400-15417000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:15416600-15417000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:15417200-15417600	Enhancers	Liver	Liver
16	chr7:15417200-15418400	Weak transcription	Osteobl	bone
17	chr7:15417600-15421000	Weak transcription	Liver	Liver
18	chr7:15418400-15418600	Enhancers	Osteobl	bone

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