Variant report

Variant	nsv517349
Chromosome Location	chr7:78958066-78963773
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 225 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:225 , 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	rs6966599	chr7:78958066-78958067	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150854330	chr7:78958092-78958093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs71984171	chr7:78958096-78958097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190333254	chr7:78958098-78958099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377663588	chr7:78958109-78958110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs563938988	chr7:78958110-78958111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577341702	chr7:78958146-78958147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73375167	chr7:78958149-78958150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs374537358	chr7:78958150-78958151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs139300842	chr7:78958185-78958186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs554616692	chr7:78958221-78958222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548152500	chr7:78958255-78958256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574354674	chr7:78958285-78958286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10248245	chr7:78958288-78958289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369798376	chr7:78958307-78958308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540844462	chr7:78958328-78958329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62458971	chr7:78958349-78958350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs145173699	chr7:78958358-78958359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs182261960	chr7:78958367-78958368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs185011115	chr7:78958373-78958374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565487563	chr7:78958506-78958507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374659622	chr7:78958541-78958542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565787874	chr7:78958553-78958554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534622721	chr7:78958582-78958583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565742042	chr7:78958622-78958623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115980125	chr7:78958694-78958695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188103182	chr7:78958776-78958777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143608843	chr7:78958801-78958802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs373037100	chr7:78958806-78958807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs556773939	chr7:78958810-78958811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs577380869	chr7:78958850-78958851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546035700	chr7:78958863-78958864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs7804010	chr7:78958864-78958865	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs180912172	chr7:78958869-78958870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370644452	chr7:78958916-78958917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs561775755	chr7:78958949-78958950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185672281	chr7:78958950-78958951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191617183	chr7:78958957-78958958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs564383314	chr7:78958965-78958966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532337220	chr7:78958967-78958968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181642681	chr7:78958995-78958996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs1881291	chr7:78959009-78959010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs565994126	chr7:78959060-78959061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs548065534	chr7:78959068-78959069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534948654	chr7:78959072-78959073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs368141824	chr7:78959077-78959078	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs548478869	chr7:78959095-78959096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568107119	chr7:78959102-78959103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs536605140	chr7:78959188-78959189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs557024617	chr7:78959224-78959225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Williams-beuren syndrome	16826523	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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:78955400-78958800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:78958800-78959200	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:78959200-78963400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:78961400-78962000	Enhancers	NHLF	lung
5	chr7:78961400-78962000	Enhancers	Osteobl	bone
6	chr7:78961600-78961800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr7:78961600-78962000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:78961600-78962200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:78961800-78969200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:78963400-78963600	Enhancers	Brain Cingulate Gyrus	brain
11	chr7:78963400-78964200	Enhancers	Pancreatic Islets	Pancreatic Islet

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