Variant report

Variant	nsv1053874
Chromosome Location	chr13:67509338-67520255
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:
2	chr13:67497444..67500061-chr13:67515647..67517481,2	K562	blood:
3	chr13:67517858..67520029-chr13:67533541..67536022,2	K562	blood:
4	chr13:67509668..67511474-chr13:67514101..67516252,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL445989.1-14	chr13:67517880-67518119	NONHSAT034214

Extended variants
information (count: 264 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371235130	chr13:67509356-67509357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs187897022	chr13:67509364-67509365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115699559	chr13:67509412-67509413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs573406366	chr13:67509432-67509433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs553304270	chr13:67509434-67509435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545577069	chr13:67509451-67509452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs558987485	chr13:67509486-67509487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74093665	chr13:67509582-67509583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs544630312	chr13:67509600-67509601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376674193	chr13:67509644-67509645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368681908	chr13:67509725-67509726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369179075	chr13:67509748-67509749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574863441	chr13:67509764-67509765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540775539	chr13:67509869-67509870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560624781	chr13:67509937-67509938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192001631	chr13:67509954-67509955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370611305	chr13:67509987-67509988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73208990	chr13:67510000-67510001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551509260	chr13:67510026-67510027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78944982	chr13:67510067-67510068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565055490	chr13:67510074-67510075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9540946	chr13:67510131-67510132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79832220	chr13:67510161-67510162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149940350	chr13:67510172-67510173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs183848928	chr13:67510202-67510203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566512947	chr13:67510317-67510318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538881197	chr13:67510320-67510321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559071564	chr13:67510357-67510358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs530939099	chr13:67510425-67510426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9540947	chr13:67510547-67510548	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs187940288	chr13:67510608-67510609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561190300	chr13:67510612-67510613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555298093	chr13:67510613-67510614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574926320	chr13:67510633-67510634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73208994	chr13:67510681-67510682	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs560387074	chr13:67510688-67510689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374183586	chr13:67510710-67510711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192832693	chr13:67510735-67510736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565122242	chr13:67510741-67510742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145070432	chr13:67510781-67510782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550511816	chr13:67510784-67510785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs560841444	chr13:67510785-67510786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571630736	chr13:67510789-67510790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376741287	chr13:67510804-67510805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529652898	chr13:67511088-67511089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184777579	chr13:67511092-67511093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566458297	chr13:67511098-67511099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538757156	chr13:67511100-67511101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142315024	chr13:67511125-67511126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372473265	chr13:67511138-67511139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Prostate cancer	16461572	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Schizophrenia	23813976	CNVD
Prostate cancer	22341455	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67508600-67513600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:67513600-67514400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr13:67513600-67514400	Enhancers	HMEC	breast
4	chr13:67513600-67514800	Enhancers	HUVEC	blood vessel
5	chr13:67514200-67514600	Enhancers	A549	lung
6	chr13:67518200-67519200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr13:67518600-67519600	Enhancers	Primary B cells from peripheral blood	blood
8	chr13:67518600-67519600	Enhancers	Dnd41	blood
9	chr13:67518800-67519400	Enhancers	Primary B cells from cord blood	blood
10	chr13:67519400-67520000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links