Variant report

Variant	nsv518148
Chromosome Location	chr3:112845175-112846786
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	chr3:112841276..112843534-chr3:112843795..112845734,2	MCF-7	breast:

Extended variants
information (count: 89 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:89 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9811344	chr3:112845175-112845176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573172591	chr3:112845180-112845181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564816284	chr3:112845190-112845191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375838008	chr3:112845212-112845213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201505532	chr3:112845225-112845226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112655202	chr3:112845229-112845230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs71134879	chr3:112845250-112845251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577422613	chr3:112845260-112845261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77087296	chr3:112845262-112845263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs2951458	chr3:112845277-112845278	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs115645530	chr3:112845322-112845323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs75650032	chr3:112845393-112845394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191052051	chr3:112845396-112845397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529393566	chr3:112845440-112845441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs1797621	chr3:112845532-112845533	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs369897908	chr3:112845540-112845541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182765768	chr3:112845555-112845556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17239090	chr3:112845567-112845568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs538369702	chr3:112845571-112845572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142039467	chr3:112845625-112845626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533399828	chr3:112845660-112845661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536087839	chr3:112845676-112845677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551353725	chr3:112845691-112845692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199610262	chr3:112845702-112845703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs34785500	chr3:112845703-112845704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs554848753	chr3:112845707-112845708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201658769	chr3:112845708-112845709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs573092276	chr3:112845716-112845717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534153718	chr3:112845751-112845752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187835340	chr3:112845774-112845775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs193136618	chr3:112845812-112845813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs1797622	chr3:112845816-112845817	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548776506	chr3:112845891-112845892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184829774	chr3:112845946-112845947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574954203	chr3:112845955-112845956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71750773	chr3:112846012-112846013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78851435	chr3:112846020-112846021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57552645	chr3:112846049-112846050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116133390	chr3:112846074-112846075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs2613957	chr3:112846140-112846141	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs2700214	chr3:112846144-112846145	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539814906	chr3:112846146-112846147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571120224	chr3:112846171-112846172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538649741	chr3:112846280-112846281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11276548	chr3:112846298-112846299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2613956	chr3:112846301-112846302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370400934	chr3:112846302-112846303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs150155024	chr3:112846303-112846304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35367291	chr3:112846304-112846305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534361072	chr3:112846305-112846306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	16608533	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Developmental delay	22180640	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	21115979	CNVD
Attention deficit hyperactivity disorder	22180640	CNVD
Breast cancer	17142309	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	22174824	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112840600-112846800	Weak transcription	Fetal Stomach	stomach
2	chr3:112842800-112845600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:112843200-112847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr3:112843400-112847000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:112843400-112851200	Weak transcription	NHEK	skin
6	chr3:112843600-112847000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:112843800-112846800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:112843800-112847000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112843800-112847000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:112843800-112847000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr3:112844200-112847000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:112844800-112845600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr3:112845600-112845800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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