Variant report

Variant	nsv442068
Chromosome Location	chr7:125472702-125476043
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	chr7:125459178..125461778-chr7:125471242..125473065,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368199608	chr7:125472762-125472763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555631791	chr7:125472786-125472787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543827853	chr7:125472789-125472790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562525258	chr7:125472823-125472824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577624723	chr7:125472850-125472851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79358480	chr7:125472882-125472883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144355825	chr7:125472902-125472903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs560384665	chr7:125472909-125472910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71688425	chr7:125472911-125472912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527509694	chr7:125472949-125472950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs549281032	chr7:125472970-125472971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7458756	chr7:125472977-125472978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144618617	chr7:125473005-125473006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs199562207	chr7:125473053-125473054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs71756574	chr7:125473055-125473056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201560080	chr7:125473058-125473059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199625566	chr7:125473059-125473060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531653375	chr7:125473069-125473070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs117498565	chr7:125473073-125473074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571627904	chr7:125473085-125473086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538750250	chr7:125473100-125473101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs544545717	chr7:125473118-125473119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539515870	chr7:125473124-125473125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs114269095	chr7:125473145-125473146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565915347	chr7:125473147-125473148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536483985	chr7:125473250-125473251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554758467	chr7:125473251-125473252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113056438	chr7:125473275-125473276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188681819	chr7:125473295-125473296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs35159303	chr7:125473316-125473317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200036635	chr7:125473324-125473325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386717554	chr7:125473328-125473329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180882715	chr7:125473329-125473330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143727202	chr7:125473340-125473341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs544533737	chr7:125473343-125473344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10215348	chr7:125473352-125473353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs572184266	chr7:125473363-125473364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542812941	chr7:125473392-125473393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78775661	chr7:125473405-125473406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185266210	chr7:125473414-125473415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112962334	chr7:125473423-125473424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565135057	chr7:125473437-125473438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532569528	chr7:125473461-125473462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142878169	chr7:125473477-125473478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs188177076	chr7:125473537-125473538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386717555	chr7:125473561-125473562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs10215755	chr7:125473574-125473575	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377202421	chr7:125473579-125473580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531200716	chr7:125473634-125473635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554519768	chr7:125473662-125473663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125472600-125481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:125474000-125474800	Enhancers	Cortex derived primary cultured neurospheres	brain

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