Variant report

Variant	nsv977250
Chromosome Location	chr13:63653549-63669565
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	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:
2	chr13:63663754..63665958-chr13:63668093..63670026,2	K562	blood:

Extended variants
information (count: 333 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:333 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575652115	chr13:63653549-63653550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374562252	chr13:63653553-63653554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186297512	chr13:63653554-63653555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs555899996	chr13:63653590-63653591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs191009106	chr13:63653689-63653690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs181076891	chr13:63653694-63653695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541266898	chr13:63653701-63653702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186003588	chr13:63653702-63653703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191329797	chr13:63653730-63653731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148958824	chr13:63653764-63653765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564545433	chr13:63653802-63653803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544295766	chr13:63653834-63653835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183137646	chr13:63653843-63653844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569291682	chr13:63653886-63653887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371493350	chr13:63653887-63653888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564533677	chr13:63653916-63653917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186862996	chr13:63653972-63653973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577956219	chr13:63654072-63654073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549893252	chr13:63654074-63654075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562448203	chr13:63654094-63654095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191641955	chr13:63654108-63654109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs73201257	chr13:63654132-63654133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs565946693	chr13:63654151-63654152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1512877	chr13:63654168-63654169	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs58851082	chr13:63654210-63654211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs148096294	chr13:63654237-63654238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs537088760	chr13:63654297-63654298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs141429982	chr13:63654342-63654343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555064168	chr13:63654406-63654407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573534457	chr13:63654453-63654454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534622186	chr13:63654478-63654479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372223684	chr13:63654494-63654495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183277358	chr13:63654555-63654556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545204084	chr13:63654556-63654557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529054739	chr13:63654609-63654610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187939617	chr13:63654642-63654643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs59952938	chr13:63654695-63654696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs576452066	chr13:63654763-63654764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543848439	chr13:63654784-63654785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561944576	chr13:63654799-63654800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs192407979	chr13:63654832-63654833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548736448	chr13:63654854-63654855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs529249445	chr13:63654859-63654860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541346067	chr13:63654899-63654900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559594048	chr13:63654900-63654901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs147022452	chr13:63654919-63654920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73503665	chr13:63654937-63654938	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs9598539	chr13:63654999-63655000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138208589	chr13:63655048-63655049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79521287	chr13:63655089-63655090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

Disease	PMID	Source
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
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Burkitt''s lymphoma	18698080	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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	17133270	CNVD
Myoepithelioma	18604193	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	16573809	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	18632612	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Developmental delay	21147756	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Merkel cell carcinoma	19020549	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21858162	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Gastric cancer	17908304	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Breast cancer	17393978	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Liposarcoma	21253554	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Colorectal cancer	16774939	CNVD
Adenoid cystic carcinoma	17372589	CNVD
abnormal development	18461090	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:63651800-63657400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:63660200-63660600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr13:63660400-63660600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr13:63660400-63660800	Active TSS	Fetal Lung	lung
5	chr13:63661400-63662000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:63662000-63664400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr13:63662200-63662400	Enhancers	Brain Substantia Nigra	brain
8	chr13:63662200-63662800	Enhancers	Brain Cingulate Gyrus	brain
9	chr13:63662400-63662800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr13:63662400-63662800	Flanking Active TSS	Brain Substantia Nigra	brain
11	chr13:63664400-63664600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr13:63666600-63668200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr13:63667600-63668200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr13:63667600-63668200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr13:63668000-63668400	Enhancers	HUES48 Cell Line	embryonic stem cell

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