Variant report

Variant	nsv5623
Chromosome Location	chr7:4294905-4303875
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	chr7:4302968..4305028-chr7:4309435..4311444,2	MCF-7	breast:
2	chr7:4287888..4289875-chr7:4302608..4305550,2	MCF-7	breast:

Extended variants
information (count: 520 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563888988	chr7:4294976-4294977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533003338	chr7:4295020-4295021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142565657	chr7:4295023-4295024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150950957	chr7:4295046-4295047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs141978151	chr7:4295048-4295049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548670476	chr7:4295092-4295093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374062532	chr7:4295114-4295115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568846729	chr7:4295140-4295141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs537300174	chr7:4295154-4295155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376962601	chr7:4295170-4295171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546704621	chr7:4295222-4295223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144186405	chr7:4295247-4295248	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540073883	chr7:4295270-4295271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537052131	chr7:4295272-4295273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs147857745	chr7:4295278-4295279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs555995178	chr7:4295286-4295287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543871284	chr7:4295342-4295343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs535771565	chr7:4295384-4295385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs188062527	chr7:4295385-4295386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs575595380	chr7:4295390-4295391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544173394	chr7:4295416-4295417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564078183	chr7:4295417-4295418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192642345	chr7:4295418-4295419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540012947	chr7:4295430-4295431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559933266	chr7:4295439-4295440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528943864	chr7:4295451-4295452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs535211371	chr7:4295459-4295460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141435917	chr7:4295468-4295469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150360892	chr7:4295484-4295485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs551281463	chr7:4295519-4295520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571189585	chr7:4295533-4295534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs138864285	chr7:4295545-4295546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs34810935	chr7:4295547-4295548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78002650	chr7:4295548-4295549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs75609736	chr7:4295549-4295550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57588023	chr7:4295569-4295570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75359715	chr7:4295570-4295571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs183741951	chr7:4295614-4295615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs189287134	chr7:4295615-4295616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs112639520	chr7:4295686-4295687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577812563	chr7:4295694-4295695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548435822	chr7:4295700-4295701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs555874261	chr7:4295701-4295702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs575539025	chr7:4295740-4295741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs545167320	chr7:4295759-4295760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4723545	chr7:4295789-4295790	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs182031147	chr7:4295791-4295792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540148151	chr7:4295794-4295795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs377084866	chr7:4295795-4295796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542280481	chr7:4295825-4295826	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:104 , 50 per page) page: 1 2 3

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	chr7:4288600-4295600	Weak transcription	Fetal Brain Male	brain
6	chr7:4288600-4296000	Weak transcription	Fetal Brain Female	brain
7	chr7:4288600-4296000	Weak transcription	Fetal Kidney	kidney
8	chr7:4288600-4297800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:4289200-4304000	Weak transcription	Pancreas	Pancrea
10	chr7:4291200-4295800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr7:4291400-4304200	Weak transcription	Aorta	Aorta
12	chr7:4291600-4295800	Weak transcription	Fetal Lung	lung
13	chr7:4294600-4298200	Enhancers	Fetal Stomach	stomach
14	chr7:4294800-4311800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:4295600-4297600	Enhancers	Fetal Brain Male	brain
16	chr7:4295800-4296000	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr7:4295800-4296200	Enhancers	Colon Smooth Muscle	Colon
18	chr7:4295800-4297000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:4295800-4297400	Enhancers	Fetal Lung	lung
20	chr7:4295800-4297600	Enhancers	Rectal Smooth Muscle	rectum
21	chr7:4296000-4296200	Active TSS	Stomach Smooth Muscle	stomach
22	chr7:4296000-4296800	Enhancers	Brain Germinal Matrix	brain
23	chr7:4296000-4296800	Enhancers	Fetal Kidney	kidney
24	chr7:4296000-4297000	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:4296000-4297000	Enhancers	Fetal Brain Female	brain
26	chr7:4296200-4296600	Enhancers	Adipose Nuclei	Adipose
27	chr7:4296200-4296600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr7:4296200-4297000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr7:4296200-4297000	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr7:4296200-4297200	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr7:4296200-4297400	Enhancers	Brain Hippocampus Middle	brain
32	chr7:4296400-4296800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:4296600-4297800	Enhancers	Colon Smooth Muscle	Colon
34	chr7:4296800-4300600	Weak transcription	Brain Germinal Matrix	brain
35	chr7:4297000-4297200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:4297000-4297400	Enhancers	Stomach Smooth Muscle	stomach
37	chr7:4297000-4298200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:4297200-4297600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr7:4297200-4300800	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr7:4297400-4298000	ZNF genes & repeats	Fetal Lung	lung
41	chr7:4297400-4300200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:4297600-4300600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:4297800-4298200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr7:4297800-4300400	Weak transcription	Colon Smooth Muscle	Colon
45	chr7:4298000-4300600	Weak transcription	Fetal Lung	lung
46	chr7:4298200-4299400	Weak transcription	Fetal Stomach	stomach
47	chr7:4298200-4307400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:4299200-4299400	Enhancers	HSMMtube	muscle
49	chr7:4299400-4299600	Enhancers	Fetal Stomach	stomach
50	chr7:4299400-4300600	Weak transcription	HSMMtube	muscle

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