Variant report

Variant	nsv933332
Chromosome Location	chr7:146805138-146826061
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	chr7:146814469..146816823-chr7:146819196..146821242,2	K562	blood:
2	chr7:146814469..146816823-chr7:146819196..146821242,2	K562	blood:

Extended variants
information (count: 124 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:124 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs570431092	chr7:146813816-146813817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs539321543	chr7:146813822-146813823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs556172676	chr7:146813828-146813829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs544227893	chr7:146813836-146813837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375679909	chr7:146813843-146813844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs576348103	chr7:146813849-146813850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs542355543	chr7:146813875-146813876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs115422606	chr7:146813895-146813896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs572459601	chr7:146813903-146813904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs190508271	chr7:146813910-146813911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs183041244	chr7:146813957-146813958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs188333639	chr7:146813960-146813961	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs140172765	chr7:146813961-146813962	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs544114769	chr7:146814011-146814012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192974522	chr7:146814038-146814039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369769681	chr7:146814059-146814060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78121217	chr7:146814065-146814066	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369418764	chr7:146814102-146814103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561639036	chr7:146814113-146814114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527346349	chr7:146814123-146814124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs547212608	chr7:146814150-146814151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111454658	chr7:146814152-146814153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs12536128	chr7:146814185-146814186	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs147717167	chr7:146814188-146814189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559839429	chr7:146814192-146814193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371376525	chr7:146814230-146814231	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535489836	chr7:146814238-146814239	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372926587	chr7:146814239-146814240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12531175	chr7:146814246-146814247	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7794614	chr7:146814251-146814252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs549177142	chr7:146814262-146814263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs77394686	chr7:146814317-146814318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573545843	chr7:146814394-146814395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535097849	chr7:146814462-146814463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558426722	chr7:146814484-146814485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs578211725	chr7:146814488-146814489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567566416	chr7:146814489-146814490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs112728778	chr7:146814503-146814504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550239120	chr7:146814506-146814507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs544230459	chr7:146814507-146814508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574235047	chr7:146814526-146814527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541476867	chr7:146814533-146814534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs59297765	chr7:146814568-146814569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4726818	chr7:146814569-146814570	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs372531414	chr7:146814609-146814610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs554476693	chr7:146814619-146814620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563984230	chr7:146814630-146814631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6464784	chr7:146814694-146814695	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs113833233	chr7:146814700-146814701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs569864270	chr7:146814746-146814747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146813800-146814000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:146814000-146814400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:146814000-146816200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:146818000-146818200	Enhancers	Gastric	stomach
5	chr7:146818000-146818200	Enhancers	Pancreas	Pancrea

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links