Variant report

Variant	nsv366328
Chromosome Location	chr7:67266758-67275434
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 143 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557271099	chr7:67267000-67267001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574271779	chr7:67267008-67267009	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569516368	chr7:67267017-67267018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs73143304	chr7:67267019-67267020	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs60870848	chr7:67267037-67267038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373532959	chr7:67267095-67267096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553514945	chr7:67267103-67267104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552067901	chr7:67267112-67267113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs1982711	chr7:67267120-67267121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs564879516	chr7:67267142-67267143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533385369	chr7:67267165-67267166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1026880	chr7:67268004-67268005	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs575544538	chr7:67268092-67268093	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs62458278	chr7:67268093-67268094	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs187712952	chr7:67268102-67268103	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs537906780	chr7:67268104-67268105	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs554289984	chr7:67268128-67268129	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs146932330	chr7:67268146-67268147	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs11973314	chr7:67268152-67268153	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs138516502	chr7:67268158-67268159	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs11977564	chr7:67268188-67268189	Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs144416480	chr7:67268196-67268197	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs559363154	chr7:67270837-67270838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528396983	chr7:67270848-67270849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562924070	chr7:67270871-67270872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs185969575	chr7:67270876-67270877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571554880	chr7:67270910-67270911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146099756	chr7:67270924-67270925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550727032	chr7:67270972-67270973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148713068	chr7:67271029-67271030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190827265	chr7:67271092-67271093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs573081887	chr7:67271098-67271099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536015892	chr7:67271149-67271150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565692695	chr7:67271237-67271238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184063120	chr7:67271249-67271250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558072603	chr7:67271315-67271316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555668399	chr7:67271322-67271323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577914234	chr7:67271330-67271331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs62458280	chr7:67271370-67271371	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs186070656	chr7:67271433-67271434	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs573675171	chr7:67271441-67271442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs538146562	chr7:67271442-67271443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs542660496	chr7:67271450-67271451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs559399398	chr7:67271463-67271464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs142280644	chr7:67271467-67271468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs545015089	chr7:67271480-67271481	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs565204018	chr7:67271565-67271566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190782501	chr7:67271604-67271605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183088469	chr7:67271614-67271615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs556040342	chr7:67271622-67271623	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
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
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
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	20823134	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67267000-67267200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr7:67268000-67268200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr7:67270800-67271000	Enhancers	Ovary	ovary
4	chr7:67270800-67272200	Enhancers	HepG2	liver
5	chr7:67272000-67273600	Enhancers	Adipose Nuclei	Adipose
6	chr7:67272400-67272800	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:67272600-67273000	Enhancers	Fetal Muscle Leg	muscle
8	chr7:67272600-67273000	Enhancers	Ovary	ovary
9	chr7:67273200-67273600	Enhancers	Ovary	ovary
10	chr7:67274600-67274800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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