Variant report

Variant	nsv971189
Chromosome Location	chr7:146037836-146042438
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 103 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:103 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548624381	chr7:146040006-146040007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149838432	chr7:146040012-146040013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566970994	chr7:146040018-146040019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560693693	chr7:146040070-146040071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs372757259	chr7:146040079-146040080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534242875	chr7:146040128-146040129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145869606	chr7:146040146-146040147	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs550769595	chr7:146040172-146040173	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182711200	chr7:146040179-146040180	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs545462976	chr7:146040447-146040448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563766761	chr7:146040455-146040456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs112703980	chr7:146040470-146040471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531321179	chr7:146040474-146040475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187611940	chr7:146040525-146040526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs116312595	chr7:146040526-146040527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538042694	chr7:146040579-146040580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs548807406	chr7:146040599-146040600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34660061	chr7:146040602-146040603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567034251	chr7:146040682-146040683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527817299	chr7:146040683-146040684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs374774225	chr7:146040687-146040688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10282451	chr7:146040702-146040703	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs538237946	chr7:146040710-146040711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556237822	chr7:146040725-146040726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568353651	chr7:146040749-146040750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs13235449	chr7:146040767-146040768	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs547789120	chr7:146040793-146040794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs35897295	chr7:146040835-146040836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377577404	chr7:146040838-146040839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553574716	chr7:146040869-146040870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571886195	chr7:146040889-146040890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10269297	chr7:146040931-146040932	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs201103871	chr7:146040934-146040935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73162158	chr7:146040935-146040936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543406385	chr7:146041008-146041009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10275558	chr7:146041019-146041020	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555091603	chr7:146041048-146041049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530436306	chr7:146041060-146041061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542511679	chr7:146041087-146041088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192135577	chr7:146041093-146041094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527881647	chr7:146041113-146041114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552754163	chr7:146041129-146041130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570930155	chr7:146041130-146041131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531671954	chr7:146041136-146041137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs550164763	chr7:146041154-146041155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568336295	chr7:146041163-146041164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs148550904	chr7:146041205-146041206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs547272928	chr7:146041244-146041245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs376739953	chr7:146041261-146041262	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs563753579	chr7:146041314-146041315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146040000-146040200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr7:146040000-146040200	Enhancers	Fetal Brain Male	brain
3	chr7:146040400-146040800	Enhancers	Fetal Brain Female	brain
4	chr7:146040400-146041600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr7:146040400-146041600	Weak transcription	Fetal Brain Male	brain
6	chr7:146040800-146041200	Weak transcription	Fetal Brain Female	brain
7	chr7:146041200-146041400	Enhancers	Fetal Brain Female	brain
8	chr7:146041400-146042400	Weak transcription	Fetal Brain Female	brain
9	chr7:146041600-146042000	Enhancers	Ovary	ovary
10	chr7:146041600-146043400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr7:146041600-146043400	Enhancers	Fetal Brain Male	brain
12	chr7:146042000-146042400	Weak transcription	Ovary	ovary
13	chr7:146042400-146042800	Enhancers	Fetal Brain Female	brain
14	chr7:146042400-146043400	Enhancers	Ovary	ovary

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