Variant report

Variant	nsv8208
Chromosome Location	chr7:125660975-125662942
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139672463	chr7:125660984-125660985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112062137	chr7:125660989-125660990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539561374	chr7:125661016-125661017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573569218	chr7:125661023-125661024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs78663133	chr7:125661028-125661029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557914450	chr7:125661033-125661034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368404093	chr7:125661034-125661035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10230499	chr7:125661077-125661078	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs112987518	chr7:125661155-125661156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568721425	chr7:125661156-125661157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187468444	chr7:125661165-125661166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567829020	chr7:125661220-125661221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535455506	chr7:125661228-125661229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10230735	chr7:125661233-125661234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs369431142	chr7:125661247-125661248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372723299	chr7:125661313-125661314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76469625	chr7:125661433-125661434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs377662564	chr7:125661453-125661454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527684315	chr7:125661454-125661455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541097284	chr7:125661471-125661472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557430991	chr7:125661482-125661483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111367857	chr7:125661485-125661486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113583380	chr7:125661499-125661500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1859090	chr7:125661503-125661504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555648439	chr7:125661533-125661534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550370910	chr7:125661593-125661594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78161374	chr7:125661603-125661604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs1362021	chr7:125661664-125661665	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs562829669	chr7:125661722-125661723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79915612	chr7:125661725-125661726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10632052	chr7:125661777-125661778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5887277	chr7:125661778-125661779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398048092	chr7:125661799-125661800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527528553	chr7:125661800-125661801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201763817	chr7:125661801-125661802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560553189	chr7:125661814-125661815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs80017581	chr7:125661839-125661840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549284100	chr7:125661939-125661940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2158105	chr7:125661940-125661941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531873034	chr7:125661965-125661966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187801377	chr7:125662146-125662147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568561684	chr7:125662173-125662174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146597799	chr7:125662254-125662255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551092611	chr7:125662259-125662260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs566194034	chr7:125662289-125662290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs727491	chr7:125662290-125662291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534588696	chr7:125662298-125662299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555223297	chr7:125662320-125662321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192935422	chr7:125662336-125662337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs557501119	chr7:125662362-125662363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125643400-125667000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:125646400-125687000	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr7:125651800-125667000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:125654600-125680600	Weak transcription	H9 Cell Line	embryonic stem cell

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