Variant report

Variant	nsv523350
Chromosome Location	chr7:147687165-147687881
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	chr7:147680486..147683075-chr7:147685305..147687818,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2710079	chr7:147687165-147687166	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs540017007	chr7:147687176-147687177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs191929755	chr7:147687244-147687245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs550203277	chr7:147687279-147687280	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561681816	chr7:147687296-147687297	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531500128	chr7:147687306-147687307	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548108098	chr7:147687352-147687353	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117486843	chr7:147687424-147687425	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533821101	chr7:147687428-147687429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112253144	chr7:147687454-147687455	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543655888	chr7:147687482-147687483	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556179735	chr7:147687540-147687541	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181530503	chr7:147687583-147687584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186872812	chr7:147687586-147687587	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544073890	chr7:147687611-147687612	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs150496660	chr7:147687612-147687613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs541745797	chr7:147687613-147687614	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191311633	chr7:147687640-147687641	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs35532322	chr7:147687645-147687646	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs537859541	chr7:147687654-147687655	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543470258	chr7:147687696-147687697	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138648257	chr7:147687745-147687746	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560192326	chr7:147687752-147687753	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182654222	chr7:147687762-147687763	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs35290706	chr7:147687765-147687766	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs397889056	chr7:147687771-147687772	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543140818	chr7:147687779-147687780	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549586444	chr7:147687794-147687795	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527529310	chr7:147687834-147687835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs4726902	chr7:147687881-147687882	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
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	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
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	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
Ovarian cancer	21720365	CNVD
Heart disease	21282601	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Lobular carcinoma	20920651	CNVD
Long-qt syndrome	20920651	CNVD
Malignant fibrous histiocytomas	21085701	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:147685600-147688400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:147686400-147687200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:147687200-147696000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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