Variant report

Variant	nsv518201
Chromosome Location	chr13:67649599-67651061
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	chr13:67644343..67646660-chr13:67649224..67651999,2	K562	blood:
2	chr13:67649311..67650094-chr13:67990535..67991084,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1927822	chr13:67649599-67649600	Weak transcription Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs368840737	chr13:67649643-67649644	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs185526499	chr13:67649647-67649648	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs35879262	chr13:67649672-67649673	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs556741567	chr13:67649703-67649704	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs533260972	chr13:67649720-67649721	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs367585025	chr13:67649747-67649748	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs534943783	chr13:67649755-67649756	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs61959361	chr13:67649761-67649762	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs575058202	chr13:67649803-67649804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs577832598	chr13:67649808-67649809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543019602	chr13:67649823-67649824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs115386120	chr13:67649856-67649857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs573445539	chr13:67649860-67649861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7997247	chr13:67649864-67649865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114083989	chr13:67649926-67649927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374440690	chr13:67650013-67650014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs368709364	chr13:67650064-67650065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545550600	chr13:67650068-67650069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181940420	chr13:67650087-67650088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560998763	chr13:67650111-67650112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551003064	chr13:67650188-67650189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs561256762	chr13:67650204-67650205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs184412997	chr13:67650207-67650208	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs141654233	chr13:67650234-67650235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565899532	chr13:67650271-67650272	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs189124202	chr13:67650328-67650329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551523859	chr13:67650352-67650353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181197607	chr13:67650379-67650380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536940878	chr13:67650407-67650408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147078833	chr13:67650493-67650494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530899707	chr13:67650538-67650539	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs138491873	chr13:67650546-67650547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs535977058	chr13:67650597-67650598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs370047810	chr13:67650652-67650653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144031080	chr13:67650666-67650667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186664971	chr13:67650714-67650715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs34031590	chr13:67650731-67650732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572867880	chr13:67650758-67650759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs147323892	chr13:67650759-67650760	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190764032	chr13:67650796-67650797	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116733080	chr13:67650817-67650818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576047965	chr13:67650928-67650929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs544917245	chr13:67650944-67650945	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs561291630	chr13:67650947-67650948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs117902381	chr13:67650949-67650950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs181046014	chr13:67650954-67650955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs560403229	chr13:67650967-67650968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs3920646	chr13:67651061-67651062	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:67638400-67649800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr13:67645400-67649600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr13:67646800-67649600	Weak transcription	Brain Anterior Caudate	brain
4	chr13:67648600-67650200	Weak transcription	Brain Hippocampus Middle	brain
5	chr13:67649000-67651200	Weak transcription	Brain Substantia Nigra	brain
6	chr13:67649200-67649600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr13:67649200-67649600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:67649200-67649600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr13:67649200-67649600	Active TSS	Adipose Nuclei	Adipose
10	chr13:67649200-67649600	Active TSS	Liver	Liver
11	chr13:67649200-67649600	Active TSS	Brain Cingulate Gyrus	brain
12	chr13:67649200-67649600	Active TSS	Osteobl	bone
13	chr13:67649200-67649800	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr13:67649200-67649800	Flanking Active TSS	A549	lung
15	chr13:67649200-67651200	Enhancers	Muscle Satellite Cultured Cells	--
16	chr13:67649400-67649600	Active TSS	Brain Angular Gyrus	brain
17	chr13:67649600-67649800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr13:67649600-67649800	Enhancers	Brain Anterior Caudate	brain
19	chr13:67649600-67650200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:67649600-67650200	Weak transcription	Brain Angular Gyrus	brain
21	chr13:67649600-67650600	Enhancers	Brain Cingulate Gyrus	brain
22	chr13:67649600-67651800	Enhancers	Liver	Liver
23	chr13:67649800-67650400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:67649800-67651000	Enhancers	Brain Inferior Temporal Lobe	brain
25	chr13:67649800-67651600	Enhancers	A549	lung
26	chr13:67649800-67659800	Weak transcription	Brain Anterior Caudate	brain
27	chr13:67650200-67650400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:67650200-67650400	Enhancers	Brain Angular Gyrus	brain
29	chr13:67650200-67651600	Enhancers	Brain Hippocampus Middle	brain
30	chr13:67650200-67658000	Weak transcription	Left Ventricle	heart
31	chr13:67650400-67651000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:67650400-67651000	Weak transcription	Brain Angular Gyrus	brain
33	chr13:67650400-67651200	Enhancers	HSMM	muscle
34	chr13:67650600-67650800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr13:67650600-67651200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr13:67650800-67651200	Enhancers	HSMMtube	muscle
37	chr13:67650800-67653600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr13:67651000-67651200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr13:67651000-67651200	Enhancers	Brain Angular Gyrus	brain
40	chr13:67651000-67651200	Weak transcription	Brain Inferior Temporal Lobe	brain

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