Variant report

Variant	nsv517858
Chromosome Location	chr7:144841531-144845595
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	chr7:144836936..144838549-chr7:144843546..144845629,2	K562	blood:
2	chr7:144841731..144842512-chr7:144850534..144851528,2	MCF-7	breast:

Extended variants
information (count: 120 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:120 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10487524	chr7:144841531-144841532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs7791208	chr7:144841533-144841534	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs555530719	chr7:144841554-144841555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553969782	chr7:144841559-144841560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567355166	chr7:144841565-144841566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573458361	chr7:144841578-144841579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540859232	chr7:144841615-144841616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs565438877	chr7:144841628-144841629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146445502	chr7:144841696-144841697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556196274	chr7:144841718-144841719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377227303	chr7:144841719-144841720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577522962	chr7:144841745-144841746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6979108	chr7:144841816-144841817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs181543235	chr7:144841866-144841867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs530059157	chr7:144841869-144841870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs548243259	chr7:144841954-144841955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542950438	chr7:144842057-144842058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566660902	chr7:144842086-144842087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140921699	chr7:144842128-144842129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374592568	chr7:144842157-144842158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76629946	chr7:144842188-144842189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs186147283	chr7:144842212-144842213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200132733	chr7:144842225-144842226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs150077400	chr7:144842256-144842257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs146991863	chr7:144842261-144842262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs386718891	chr7:144842262-144842263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370094251	chr7:144842263-144842264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373042783	chr7:144842265-144842266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376226175	chr7:144842266-144842267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370325349	chr7:144842267-144842268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10277836	chr7:144842291-144842292	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs545094913	chr7:144842312-144842313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574448929	chr7:144842399-144842400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs113983574	chr7:144842431-144842432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535475025	chr7:144842520-144842521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs189723313	chr7:144842532-144842533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4726744	chr7:144842546-144842547	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs145463440	chr7:144842548-144842549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181279520	chr7:144842566-144842567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577369187	chr7:144842582-144842583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544862410	chr7:144842626-144842627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1558019	chr7:144842661-144842662	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs530022487	chr7:144842672-144842673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs548223214	chr7:144842681-144842682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs1558020	chr7:144842734-144842735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs148901866	chr7:144842747-144842748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552393864	chr7:144842749-144842750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543465057	chr7:144842750-144842751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386718892	chr7:144842797-144842798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143623832	chr7:144842799-144842800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144833600-144844000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:144840000-144843600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr7:144841000-144842000	Weak transcription	Adipose Nuclei	Adipose
4	chr7:144842000-144842200	Enhancers	Adipose Nuclei	Adipose
5	chr7:144843600-144844000	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr7:144844000-144844200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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