Variant report

Variant	nsv981414
Chromosome Location	chr7:124592863-124594745
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	chr7:124584280..124585909-chr7:124591798..124594072,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188682043	chr7:124592864-124592865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570742647	chr7:124592955-124592956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs372604971	chr7:124593005-124593006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375656404	chr7:124593007-124593008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369432156	chr7:124593008-124593009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373360675	chr7:124593010-124593011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200172381	chr7:124593014-124593015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201098522	chr7:124593025-124593026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201795358	chr7:124593026-124593027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145457456	chr7:124593028-124593029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560567479	chr7:124593067-124593068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533877838	chr7:124593113-124593114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180769634	chr7:124593130-124593131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547475447	chr7:124593215-124593216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552591975	chr7:124593273-124593274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141082346	chr7:124593336-124593337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531749818	chr7:124593353-124593354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548147786	chr7:124593437-124593438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568351564	chr7:124593490-124593491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377490222	chr7:124593514-124593515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370664406	chr7:124593729-124593730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs200440761	chr7:124593764-124593765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533690619	chr7:124593768-124593769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs75263271	chr7:124593774-124593775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531792932	chr7:124593775-124593776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10227119	chr7:124593780-124593781	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs539392108	chr7:124593808-124593809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575596297	chr7:124593814-124593815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555863569	chr7:124593820-124593821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576707170	chr7:124593825-124593826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60625314	chr7:124593899-124593900	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs555717532	chr7:124593911-124593912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115974663	chr7:124593928-124593929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535442429	chr7:124593978-124593979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146932391	chr7:124593987-124593988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368125801	chr7:124594113-124594114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138180549	chr7:124594160-124594161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs540822518	chr7:124594192-124594193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560703127	chr7:124594228-124594229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577392852	chr7:124594323-124594324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573217009	chr7:124594325-124594326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546294567	chr7:124594335-124594336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114471460	chr7:124594349-124594350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143746018	chr7:124594356-124594357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs548565447	chr7:124594440-124594441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561830098	chr7:124594448-124594449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527620569	chr7:124594464-124594465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547171814	chr7:124594490-124594491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570339998	chr7:124594503-124594504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555586387	chr7:124594647-124594648	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
Myelodysplastic syndrome	21251322	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124591600-124594800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:124592600-124597800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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