Variant report

Variant	nsv818552
Chromosome Location	chr7:124957633-124962085
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	chr7:124699688..124701477-chr7:124956011..124957871,2	MCF-7	breast:
2	chr6:38756306..38758851-chr7:124960777..124963063,2	MCF-7	breast:

Extended variants
information (count: 201 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17148161	chr7:124957633-124957634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554122260	chr7:124957668-124957669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200865138	chr7:124957670-124957671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147148053	chr7:124957671-124957672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375738383	chr7:124957674-124957675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577376925	chr7:124957682-124957683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376348178	chr7:124957686-124957687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs374765393	chr7:124957688-124957689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs180830014	chr7:124957737-124957738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs57849457	chr7:124957747-124957748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs144493183	chr7:124957843-124957844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs57489531	chr7:124957858-124957859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544570176	chr7:124957926-124957927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561786011	chr7:124957972-124957973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185185568	chr7:124957987-124957988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541330656	chr7:124958014-124958015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1863781	chr7:124958015-124958016	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs533176531	chr7:124958031-124958032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190833398	chr7:124958055-124958056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs371380444	chr7:124958061-124958062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569850344	chr7:124958075-124958076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374379388	chr7:124958082-124958083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200100310	chr7:124958101-124958102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529039492	chr7:124958119-124958120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549097191	chr7:124958126-124958127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565681479	chr7:124958127-124958128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183941025	chr7:124958128-124958129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187187983	chr7:124958139-124958140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374788012	chr7:124958150-124958151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540101036	chr7:124958154-124958155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556371092	chr7:124958167-124958168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561565836	chr7:124958216-124958217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191664519	chr7:124958233-124958234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183591507	chr7:124958264-124958265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs555403243	chr7:124958300-124958301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs572126173	chr7:124958326-124958327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541042010	chr7:124958339-124958340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2402772	chr7:124958352-124958353	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs540793621	chr7:124958360-124958361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577894754	chr7:124958361-124958362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543693580	chr7:124958375-124958376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563521761	chr7:124958387-124958388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529053991	chr7:124958475-124958476	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs187137192	chr7:124958519-124958520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs80195085	chr7:124958520-124958521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528111122	chr7:124958532-124958533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191861995	chr7:124958542-124958543	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77440696	chr7:124958548-124958549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs539783846	chr7:124958571-124958572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs80135455	chr7:124958637-124958638	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	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
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124956600-124957800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:124957200-124958400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:124958400-124958600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:124958400-124962000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:124959800-124960200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:124960000-124960200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:124962000-124984400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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