Variant report

Variant	nsv976224
Chromosome Location	chr13:37849849-37867170
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	chr13:37846547..37848688-chr13:37852858..37855009,2	MCF-7	breast:

Extended variants
information (count: 662 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:662 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566775458	chr13:37849876-37849877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532437489	chr13:37849877-37849878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs191807389	chr13:37849893-37849894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs567875435	chr13:37849897-37849898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537936761	chr13:37849922-37849923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs9576234	chr13:37850066-37850067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184688164	chr13:37850134-37850135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554871684	chr13:37850140-37850141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568687706	chr13:37850200-37850201	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs534245605	chr13:37850211-37850212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs77888607	chr13:37850358-37850359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs9547770	chr13:37850440-37850441	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs35132804	chr13:37850447-37850448	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545049709	chr13:37850464-37850465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377146687	chr13:37850511-37850512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75560408	chr13:37850528-37850529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9547771	chr13:37850569-37850570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs75855988	chr13:37850576-37850577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs560929675	chr13:37850641-37850642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35567027	chr13:37850650-37850651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs113109920	chr13:37850654-37850655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542538631	chr13:37850672-37850673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs9547772	chr13:37850678-37850679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189367622	chr13:37850683-37850684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560434355	chr13:37850692-37850693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532351759	chr13:37850705-37850706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9576235	chr13:37850706-37850707	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs543148245	chr13:37850736-37850737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs564945744	chr13:37850842-37850843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201997233	chr13:37850861-37850862	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562635527	chr13:37850885-37850886	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs531692488	chr13:37850893-37850894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548731923	chr13:37850926-37850927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs34003122	chr13:37850942-37850943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs1951902	chr13:37850962-37850963	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs560168509	chr13:37850965-37850966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78104240	chr13:37850974-37850975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs74958763	chr13:37851054-37851055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17055240	chr13:37851062-37851063	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs531992580	chr13:37851169-37851170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538628771	chr13:37851202-37851203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558595460	chr13:37851253-37851254	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112598691	chr13:37851255-37851256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112298143	chr13:37851331-37851332	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs537567302	chr13:37851369-37851370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs554715972	chr13:37851389-37851390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs574533090	chr13:37851458-37851459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540450899	chr13:37851499-37851500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs560015144	chr13:37851518-37851519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs192698858	chr13:37851533-37851534	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	17440070	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37849200-37852000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr13:37849800-37850000	Enhancers	Fetal Muscle Leg	muscle
3	chr13:37849800-37850000	Enhancers	NHDF-Ad	bronchial
4	chr13:37850800-37851200	Enhancers	Colon Smooth Muscle	Colon
5	chr13:37851000-37851800	Enhancers	HMEC	breast
6	chr13:37851200-37851600	Enhancers	Fetal Heart	heart
7	chr13:37851200-37851800	Enhancers	Osteobl	bone
8	chr13:37851200-37852000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:37851200-37852200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:37851400-37852000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr13:37851800-37852200	Enhancers	NHEK	skin
12	chr13:37852200-37860200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:37859000-37859800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr13:37859000-37863400	Enhancers	HUVEC	blood vessel
15	chr13:37860200-37861400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:37861400-37862200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr13:37861400-37877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr13:37862200-37862400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:37862200-37862600	Enhancers	Fetal Muscle Leg	muscle
20	chr13:37862400-37862600	Enhancers	Adipose Nuclei	Adipose
21	chr13:37862400-37863400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:37863200-37864200	Enhancers	Brain Substantia Nigra	brain
23	chr13:37863400-37863800	Enhancers	Fetal Heart	heart
24	chr13:37863400-37864000	Enhancers	Brain Hippocampus Middle	brain
25	chr13:37863400-37865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links