Variant report

Variant	nsv981830
Chromosome Location	chr7:118659625-118667610
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	chr7:118658923..118660731-chr7:118674082..118677043,2	K562	blood:
2	chr7:118654140..118657090-chr7:118659038..118660634,2	K562	blood:

Extended variants
information (count: 283 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:283 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191350231	chr7:118659660-118659661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576542737	chr7:118659687-118659688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183661294	chr7:118659702-118659703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10271908	chr7:118659764-118659765	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs531432768	chr7:118659782-118659783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541645168	chr7:118659786-118659787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186890912	chr7:118659799-118659800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527563684	chr7:118659811-118659812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142080784	chr7:118659845-118659846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11978767	chr7:118659848-118659849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs151147789	chr7:118659863-118659864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10242888	chr7:118659886-118659887	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192145822	chr7:118659903-118659904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183967796	chr7:118659952-118659953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs373785160	chr7:118659958-118659959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186604167	chr7:118659974-118659975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555644184	chr7:118660041-118660042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576455371	chr7:118660057-118660058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566381759	chr7:118660070-118660071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191461147	chr7:118660103-118660104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10243067	chr7:118660162-118660163	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs139532749	chr7:118660182-118660183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539027687	chr7:118660218-118660219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562478678	chr7:118660249-118660250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182440291	chr7:118660318-118660319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542031322	chr7:118660327-118660328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs561686376	chr7:118660338-118660339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531484168	chr7:118660356-118660357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541007481	chr7:118660368-118660369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564369594	chr7:118660375-118660376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs187137177	chr7:118660377-118660378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192754674	chr7:118660379-118660380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185212917	chr7:118660380-118660381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13241350	chr7:118660398-118660399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111854424	chr7:118660498-118660499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147611774	chr7:118660503-118660504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541707262	chr7:118660557-118660558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373769865	chr7:118660609-118660610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs12534529	chr7:118660614-118660615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs535896150	chr7:118660620-118660621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551817944	chr7:118660623-118660624	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190060172	chr7:118660636-118660637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193228621	chr7:118660637-118660638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539062787	chr7:118660653-118660654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527455091	chr7:118660688-118660689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12534565	chr7:118660747-118660748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs575736798	chr7:118660803-118660804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570924188	chr7:118660817-118660818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535162101	chr7:118660824-118660825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555430585	chr7:118660847-118660848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:118657800-118666400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:118661200-118661400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:118666400-118666600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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