Variant report

Variant	nsv966740
Chromosome Location	chr7:145499697-145511328
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145480904..145484102-chr7:145498283..145500839,4	K562	blood:
2	chr7:145480955..145483168-chr7:145505213..145507964,2	K562	blood:
3	chr7:145490921..145492885-chr7:145501378..145504321,2	K562	blood:
4	chr7:145502448..145505439-chr7:145519907..145522697,2	K562	blood:
5	chr7:145498670..145501761-chr7:145504907..145507918,3	K562	blood:
6	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
7	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
8	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
9	chr7:145496261..145498317-chr7:145500912..145502935,2	K562	blood:
10	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
11	chr7:145511159..145513705-chr7:145543606..145545928,2	K562	blood:
12	chr7:145499268..145500796-chr7:145500851..145503015,2	K562	blood:
13	chr7:145499268..145500796-chr7:145500851..145503015,2	K562	blood:
14	chr7:145498670..145501761-chr7:145504907..145507918,3	K562	blood:
15	chr7:145476367..145479131-chr7:145497414..145500253,2	K562	blood:

No data

Extended variants
information (count: 429 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183523455	chr7:145499727-145499728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs147694225	chr7:145499758-145499759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564917304	chr7:145499768-145499769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574120299	chr7:145499769-145499770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs563799201	chr7:145499771-145499772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561152045	chr7:145499819-145499820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528166082	chr7:145499839-145499840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186067540	chr7:145499889-145499890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571257976	chr7:145499901-145499902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs190835033	chr7:145499948-145499949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs149130869	chr7:145499968-145499969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570338130	chr7:145499969-145499970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537765919	chr7:145500004-145500005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555640140	chr7:145500019-145500020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs148531636	chr7:145500050-145500051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs552265300	chr7:145500052-145500053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531665867	chr7:145500073-145500074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs116870770	chr7:145500089-145500090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6948800	chr7:145500130-145500131	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182793517	chr7:145500149-145500150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577601584	chr7:145500169-145500170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188309316	chr7:145500176-145500177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs569591568	chr7:145500226-145500227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556956182	chr7:145500276-145500277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114805148	chr7:145500328-145500329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6972421	chr7:145500377-145500378	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs560872540	chr7:145500398-145500399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551808261	chr7:145500494-145500495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58846910	chr7:145500497-145500498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75428441	chr7:145500534-145500535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534032067	chr7:145500572-145500573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565006429	chr7:145500615-145500616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532268658	chr7:145500646-145500647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550561961	chr7:145500724-145500725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192204362	chr7:145500756-145500757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs531065301	chr7:145500800-145500801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377381874	chr7:145500808-145500809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12537177	chr7:145500813-145500814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567751303	chr7:145500817-145500818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555864264	chr7:145500824-145500825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376067490	chr7:145500850-145500851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574512799	chr7:145500934-145500935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534923938	chr7:145500948-145500949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143244502	chr7:145500949-145500950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182736934	chr7:145500964-145500965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs148372003	chr7:145500985-145500986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556893087	chr7:145500997-145500998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35653135	chr7:145501053-145501054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111487976	chr7:145501127-145501128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575595337	chr7:145501175-145501176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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	23813976	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145495400-145511400	Weak transcription	K562	blood

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