Variant report

Variant	nsv607658
Chromosome Location	chr7:78456148-78473591
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 124 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191205532	chr7:78457694-78457695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs78719555	chr7:78457767-78457768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74860496	chr7:78457770-78457771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6961744	chr7:78457783-78457784	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs149486726	chr7:78457793-78457794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs138821505	chr7:78457814-78457815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374449390	chr7:78457815-78457816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs74785119	chr7:78457846-78457847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73369458	chr7:78457857-78457858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs79238068	chr7:78457963-78457964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551320682	chr7:78457977-78457978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs555984770	chr7:78461801-78461802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561356	chr7:78461811-78461812	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs386714963	chr7:78461845-78461846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs575211682	chr7:78461855-78461856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4727761	chr7:78461880-78461881	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs537657279	chr7:78461889-78461890	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs564186630	chr7:78461896-78461897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs533045837	chr7:78461907-78461908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs563017	chr7:78461928-78461929	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs375480634	chr7:78461939-78461940	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs368308945	chr7:78461959-78461960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151094490	chr7:78461978-78461979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs560746005	chr7:78461992-78461993	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113114778	chr7:78462010-78462011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10252891	chr7:78462011-78462012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs569243144	chr7:78462021-78462022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180694659	chr7:78462029-78462030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551850080	chr7:78462052-78462053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186003231	chr7:78462060-78462061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs113886669	chr7:78462096-78462097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs367725796	chr7:78462100-78462101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566396520	chr7:78462111-78462112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535372740	chr7:78462123-78462124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs549019028	chr7:78462125-78462126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555018532	chr7:78462127-78462128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142691247	chr7:78462132-78462133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4727763	chr7:78462164-78462165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557821368	chr7:78462166-78462167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577843301	chr7:78462255-78462256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540803908	chr7:78462262-78462263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs560682303	chr7:78462279-78462280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs59185499	chr7:78462282-78462283	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs368948596	chr7:78462318-78462319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs191296824	chr7:78462320-78462321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12705807	chr7:78462395-78462396	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs34929500	chr7:78462415-78462416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376551990	chr7:78462437-78462438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs111269045	chr7:78462445-78462446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571384409	chr7:78462455-78462456	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Neurodevelopmental disorder	22521361	CNVD
Williams Syndrome	20824207	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD
Schizophrenia	20838587	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78457600-78458000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr7:78461800-78463000	Enhancers	Placenta	Placenta
3	chr7:78464000-78464400	ZNF genes & repeats	Pancreas	Pancrea
4	chr7:78464400-78465000	Weak transcription	Pancreas	Pancrea
5	chr7:78467000-78467400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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