Variant report

Variant	nsv977366
Chromosome Location	chr13:37863277-37867170
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 160 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:160 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573104749	chr13:37863292-37863293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs544960626	chr13:37863302-37863303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs565226446	chr13:37863306-37863307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75606159	chr13:37863307-37863308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs1924448	chr13:37863370-37863371	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73178852	chr13:37863381-37863382	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs186527333	chr13:37863443-37863444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs546761754	chr13:37863473-37863474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs370846849	chr13:37863493-37863494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566700990	chr13:37863494-37863495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568625330	chr13:37863498-37863499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552584750	chr13:37863522-37863523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs554300640	chr13:37863563-37863564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141529180	chr13:37863580-37863581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9566209	chr13:37863587-37863588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574316003	chr13:37863627-37863628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536333669	chr13:37863645-37863646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553140430	chr13:37863678-37863679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150886623	chr13:37863714-37863715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540067207	chr13:37863720-37863721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192386825	chr13:37863725-37863726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115985669	chr13:37863727-37863728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376794678	chr13:37863730-37863731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs140081338	chr13:37863734-37863735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs559802672	chr13:37863835-37863836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs540312535	chr13:37863868-37863869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs560978996	chr13:37863872-37863873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145706371	chr13:37863913-37863914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs532593353	chr13:37863918-37863919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111701758	chr13:37863950-37863951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs181977066	chr13:37863951-37863952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs10507448	chr13:37863956-37863957	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187017521	chr13:37863960-37863961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149764604	chr13:37863990-37863991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs536295129	chr13:37863992-37863993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111553196	chr13:37864047-37864048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17055260	chr13:37864057-37864058	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs538415514	chr13:37864060-37864061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs17825242	chr13:37864082-37864083	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs540223641	chr13:37864128-37864129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs575421693	chr13:37864138-37864139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544078162	chr13:37864163-37864164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs191403150	chr13:37864183-37864184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs9547774	chr13:37864192-37864193	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs540276266	chr13:37864277-37864278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs9547775	chr13:37864292-37864293	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs148964405	chr13:37864304-37864305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546043980	chr13:37864314-37864315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs142860022	chr13:37864320-37864321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531847176	chr13:37864333-37864334	Weak transcription 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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37859000-37863400	Enhancers	HUVEC	blood vessel
2	chr13:37861400-37877200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:37862400-37863400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:37863200-37864200	Enhancers	Brain Substantia Nigra	brain
5	chr13:37863400-37863800	Enhancers	Fetal Heart	heart
6	chr13:37863400-37864000	Enhancers	Brain Hippocampus Middle	brain
7	chr13:37863400-37865200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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