Variant report

Variant	nsv981409
Chromosome Location	chr7:117531948-117534146
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:117534052..117535674-chr7:117539436..117541959,2	MCF-7	breast:
2	chr7:117531946..117533894-chr7:117549886..117552753,2	K562	blood:
3	chr7:117527276..117529074-chr7:117530618..117532214,2	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558967856	chr7:117531950-117531951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs558283216	chr7:117531965-117531966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200286147	chr7:117532010-117532011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397747191	chr7:117532012-117532013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs199989347	chr7:117532013-117532014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114526287	chr7:117532086-117532087	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544285925	chr7:117532121-117532122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184216189	chr7:117532145-117532146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs727164	chr7:117532152-117532153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs76249125	chr7:117532155-117532156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541819366	chr7:117532156-117532157	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534783857	chr7:117532159-117532160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79183178	chr7:117532192-117532193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528757055	chr7:117532220-117532221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547323189	chr7:117532292-117532293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149227714	chr7:117532326-117532327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144593126	chr7:117532374-117532375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551028264	chr7:117532475-117532476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577671541	chr7:117532509-117532510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553303630	chr7:117532512-117532513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569223045	chr7:117532598-117532599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs374915883	chr7:117532616-117532617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs138553221	chr7:117532650-117532651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs35150720	chr7:117532652-117532653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs554500846	chr7:117532679-117532680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369125314	chr7:117532712-117532713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs35970505	chr7:117532754-117532755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566529350	chr7:117532774-117532775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116032053	chr7:117532781-117532782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558619502	chr7:117532784-117532785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188671277	chr7:117532820-117532821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181104963	chr7:117532834-117532835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543509992	chr7:117532863-117532864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556345772	chr7:117532864-117532865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574416953	chr7:117532939-117532940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2160556	chr7:117532967-117532968	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs560145453	chr7:117532973-117532974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572120635	chr7:117532988-117532989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117503990	chr7:117533005-117533006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7458210	chr7:117533017-117533018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141628629	chr7:117533101-117533102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542933784	chr7:117533109-117533110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532859560	chr7:117533142-117533143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550858937	chr7:117533152-117533153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563105860	chr7:117533157-117533158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35373076	chr7:117533179-117533180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566519341	chr7:117533223-117533224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185244337	chr7:117533226-117533227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs1966438	chr7:117533230-117533231	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs113985096	chr7:117533231-117533232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Schizophrenia	21346763	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:117524800-117536200	Weak transcription	Esophagus	oesophagus
2	chr7:117529800-117535400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:117531200-117532800	Enhancers	Fetal Heart	heart

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