Variant report

Variant	nsv823993
Chromosome Location	chr7:4295764-4299535
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 204 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4723545	chr7:4295789-4295790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182031147	chr7:4295791-4295792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540148151	chr7:4295794-4295795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377084866	chr7:4295795-4295796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542280481	chr7:4295825-4295826	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs184724241	chr7:4295831-4295832	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs374721522	chr7:4295909-4295910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs529133429	chr7:4295965-4295966	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112676363	chr7:4295966-4295967	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562638957	chr7:4295969-4295970	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs557246847	chr7:4295984-4295985	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551367339	chr7:4295989-4295990	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs571278386	chr7:4295997-4295998	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs181791618	chr7:4296015-4296016	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs537397126	chr7:4296016-4296017	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs547319500	chr7:4296052-4296053	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs115327743	chr7:4296061-4296062	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs149073036	chr7:4296065-4296066	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs564778140	chr7:4296100-4296101	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs143721425	chr7:4296128-4296129	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs555562218	chr7:4296146-4296147	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs370087562	chr7:4296208-4296209	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs537967332	chr7:4296216-4296217	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs569284700	chr7:4296238-4296239	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs117890765	chr7:4296266-4296267	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs570856491	chr7:4296267-4296268	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs577620253	chr7:4296282-4296283	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs540135756	chr7:4296295-4296296	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs114567948	chr7:4296314-4296315	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs573738742	chr7:4296377-4296378	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs117300118	chr7:4296381-4296382	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs562561634	chr7:4296393-4296394	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs553451662	chr7:4296398-4296399	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs576051924	chr7:4296439-4296440	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs545134595	chr7:4296453-4296454	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs564821645	chr7:4296460-4296461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs138282954	chr7:4296482-4296483	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs142797825	chr7:4296483-4296484	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530365520	chr7:4296494-4296495	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs560873441	chr7:4296514-4296515	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs371993014	chr7:4296547-4296548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs549523488	chr7:4296556-4296557	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs569362320	chr7:4296566-4296567	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs35039665	chr7:4296625-4296626	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs201844698	chr7:4296663-4296664	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs530897842	chr7:4296677-4296678	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs549140891	chr7:4296710-4296711	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs79332051	chr7:4296715-4296716	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs537905458	chr7:4296743-4296744	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs377523430	chr7:4296782-4296783	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Acute lymphoblastic leukemia	22237106	CNVD
Urothelial carcinoma	21177765	CNVD
Glioblastoma multiforme	21525872	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:4278400-4296000	Weak transcription	Brain Germinal Matrix	brain
2	chr7:4285600-4301200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:4287600-4304200	Weak transcription	Gastric	stomach
4	chr7:4288000-4300800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
6	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
7	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
9	chr7:4291200-4295800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
11	chr7:4291600-4295800	Weak transcription	Fetal Lung	lung
12	chr7:4294600-4298200	Enhancers	Fetal Stomach	stomach
13	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:4295600-4297600	Enhancers	Fetal Brain Male	brain
15	chr7:4295800-4296000	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr7:4295800-4296200	Enhancers	Colon Smooth Muscle	Colon
17	chr7:4295800-4297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:4295800-4297400	Enhancers	Fetal Lung	lung
19	chr7:4295800-4297600	Enhancers	Rectal Smooth Muscle	rectum
20	chr7:4296000-4296200	Active TSS	Stomach Smooth Muscle	stomach
21	chr7:4296000-4296800	Enhancers	Brain Germinal Matrix	brain
22	chr7:4296000-4296800	Enhancers	Fetal Kidney	kidney
23	chr7:4296000-4297000	Enhancers	Brain Cingulate Gyrus	brain
24	chr7:4296000-4297000	Enhancers	Fetal Brain Female	brain
25	chr7:4296200-4296600	Enhancers	Adipose Nuclei	Adipose
26	chr7:4296200-4296600	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr7:4296200-4297000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:4296200-4297000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr7:4296200-4297200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr7:4296200-4297400	Enhancers	Brain Hippocampus Middle	brain
31	chr7:4296400-4296800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:4296600-4297800	Enhancers	Colon Smooth Muscle	Colon
33	chr7:4296800-4300600	Weak transcription	Brain Germinal Matrix	brain
34	chr7:4297000-4297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:4297000-4297400	Enhancers	Stomach Smooth Muscle	stomach
36	chr7:4297000-4298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:4297200-4297600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr7:4297200-4300800	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr7:4297400-4298000	ZNF genes & repeats	Fetal Lung	lung
40	chr7:4297400-4300200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr7:4297600-4300600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr7:4297800-4298200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr7:4297800-4300400	Weak transcription	Colon Smooth Muscle	Colon
44	chr7:4298000-4300600	Weak transcription	Fetal Lung	lung
45	chr7:4298200-4299400	Weak transcription	Fetal Stomach	stomach
46	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:4299200-4299400	Enhancers	HSMMtube	muscle
48	chr7:4299400-4299600	Enhancers	Fetal Stomach	stomach
49	chr7:4299400-4300600	Weak transcription	HSMMtube	muscle
50	chr7:4299400-4301400	Enhancers	Fetal Muscle Leg	muscle

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