Variant report

Variant	nsv511996
Chromosome Location	chr7:145383882-145386044
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	chr7:145378460..145381442-chr7:145382411..145386891,5	K562	blood:
2	chr7:145378460..145381300-chr7:145381623..145384373,3	K562	blood:

Variant related genes	Relation type
ENSG00000230746	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547172017	chr7:145383901-145383902	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73158529	chr7:145383915-145383916	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553725530	chr7:145383916-145383917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs539030068	chr7:145383963-145383964	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557346887	chr7:145383980-145383981	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs570782647	chr7:145384043-145384044	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150914131	chr7:145384062-145384063	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs556678670	chr7:145384120-145384121	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs182935504	chr7:145384147-145384148	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542457743	chr7:145384173-145384174	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs187444287	chr7:145384174-145384175	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs572609264	chr7:145384205-145384206	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs138488351	chr7:145384269-145384270	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs192318085	chr7:145384270-145384271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs184750137	chr7:145384289-145384290	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs75089651	chr7:145384302-145384303	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189861826	chr7:145384304-145384305	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544578515	chr7:145384317-145384318	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs372685735	chr7:145384378-145384379	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543341478	chr7:145384394-145384395	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs386718939	chr7:145384406-145384407	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs1721120	chr7:145384407-145384408	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs142928462	chr7:145384419-145384420	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs74960034	chr7:145384428-145384429	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs111700082	chr7:145384440-145384441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs532885750	chr7:145384463-145384464	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550916539	chr7:145384483-145384484	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs533164885	chr7:145384532-145384533	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373290267	chr7:145384540-145384541	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376255049	chr7:145384544-145384545	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs78658696	chr7:145384554-145384555	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs537090796	chr7:145384560-145384561	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs146124526	chr7:145384590-145384591	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs560546225	chr7:145384624-145384625	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs850569	chr7:145384643-145384644	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs192174720	chr7:145384647-145384648	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs554424397	chr7:145384653-145384654	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs184546047	chr7:145384661-145384662	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs533281911	chr7:145384664-145384665	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs537271237	chr7:145384670-145384671	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs558323419	chr7:145384712-145384713	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs557422141	chr7:145384752-145384753	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs576500352	chr7:145384821-145384822	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs543826412	chr7:145384852-145384853	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs139157345	chr7:145384853-145384854	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs189224595	chr7:145384859-145384860	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs199966107	chr7:145384882-145384883	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs73158531	chr7:145384905-145384906	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs558197196	chr7:145384916-145384917	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs116011181	chr7:145384917-145384918	Inactive region	Chromatin interactive region	1 gene(s)	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
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
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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