Variant report

Variant	nsv525283
Chromosome Location	chr7:146406379-146413497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 187 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:187 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2533096	chr7:146406379-146406380	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs6951437	chr7:146406407-146406408	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs568152055	chr7:146406414-146406415	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs535595084	chr7:146406466-146406467	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138716858	chr7:146406476-146406477	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142723028	chr7:146406486-146406487	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs556878165	chr7:146406527-146406528	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs565590020	chr7:146406545-146406546	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs6955893	chr7:146406579-146406580	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs543044112	chr7:146406581-146406582	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs369545557	chr7:146406593-146406594	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs563029123	chr7:146406608-146406609	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs182193161	chr7:146406621-146406622	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs549157848	chr7:146406653-146406654	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs147346381	chr7:146406680-146406681	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs2533095	chr7:146406691-146406692	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs551351492	chr7:146406714-146406715	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370986591	chr7:146406717-146406718	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs571584796	chr7:146406764-146406765	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs537418981	chr7:146406869-146406870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551027375	chr7:146406871-146406872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567750567	chr7:146406899-146406900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536700779	chr7:146406913-146406914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370365507	chr7:146406947-146406948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs553443787	chr7:146407014-146407015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374521447	chr7:146407057-146407058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138225419	chr7:146407069-146407070	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs539244595	chr7:146407071-146407072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558965616	chr7:146407081-146407082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs575568331	chr7:146407134-146407135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543005455	chr7:146407148-146407149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs186863627	chr7:146407223-146407224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572907480	chr7:146407249-146407250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199765100	chr7:146407256-146407257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190754636	chr7:146407283-146407284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs73168707	chr7:146407311-146407312	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs182624247	chr7:146407336-146407337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528244124	chr7:146407346-146407347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545215280	chr7:146407347-146407348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs565159807	chr7:146407390-146407391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530864983	chr7:146407403-146407404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187323295	chr7:146407420-146407421	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550988618	chr7:146407428-146407429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73740806	chr7:146407447-146407448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530125946	chr7:146407465-146407466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs115051054	chr7:146407467-146407468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144058716	chr7:146407478-146407479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79686326	chr7:146407535-146407536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189836658	chr7:146407559-146407560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs67507935	chr7:146407595-146407596	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Glioma	20126413	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:146406200-146406400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:146406400-146406800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:146406400-146407000	Enhancers	Fetal Lung	lung
6	chr7:146406400-146407400	Enhancers	Primary hematopoietic stem cells	blood
7	chr7:146406400-146407400	Enhancers	Ovary	ovary
8	chr7:146406400-146407600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr7:146406400-146407800	Enhancers	Stomach Mucosa	stomach
10	chr7:146406600-146407400	Enhancers	Pancreas	Pancrea
11	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:146406800-146407400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:146407400-146407800	Weak transcription	Ovary	ovary
14	chr7:146407400-146407800	Weak transcription	Pancreas	Pancrea
15	chr7:146407800-146408200	Enhancers	Ovary	ovary
16	chr7:146407800-146408200	Enhancers	Pancreas	Pancrea
17	chr7:146410800-146417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links