Variant report

Variant	nsv561660
Chromosome Location	chr13:53358930-53363039
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	chr13:53362246..53364630-chr13:53365395..53367188,2	K562	blood:

Extended variants
information (count: 149 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28678691	chr13:53358930-53358931	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371118902	chr13:53358938-53358939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528251138	chr13:53358961-53358962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs564594925	chr13:53358962-53358963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138257839	chr13:53359026-53359027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs28404210	chr13:53359028-53359029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs28591495	chr13:53359034-53359035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs187129698	chr13:53359061-53359062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201731616	chr13:53359084-53359085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs548821108	chr13:53359088-53359089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191566436	chr13:53359100-53359101	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144117921	chr13:53359145-53359146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147312887	chr13:53359180-53359181	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs566231108	chr13:53359189-53359190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs376206302	chr13:53359242-53359243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs235786	chr13:53359285-53359286	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs549156721	chr13:53359314-53359315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs138898448	chr13:53359319-53359320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538141796	chr13:53359332-53359333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs235787	chr13:53359343-53359344	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548436998	chr13:53359376-53359377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574497231	chr13:53359402-53359403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149415154	chr13:53359406-53359407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs9536287	chr13:53359412-53359413	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs554268968	chr13:53359521-53359522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574174281	chr13:53359543-53359544	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs543192175	chr13:53359546-53359547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559147665	chr13:53359623-53359624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs235788	chr13:53359696-53359697	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs575426561	chr13:53359751-53359752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544140571	chr13:53359794-53359795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558310621	chr13:53359831-53359832	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs235789	chr13:53359853-53359854	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs576940567	chr13:53359860-53359861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144784558	chr13:53359926-53359927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117745298	chr13:53359933-53359934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559756661	chr13:53359934-53359935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs184161170	chr13:53359944-53359945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548703986	chr13:53359968-53359969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374649444	chr13:53359981-53359982	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148645492	chr13:53360005-53360006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116991382	chr13:53360006-53360007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs367776604	chr13:53360008-53360009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs534541537	chr13:53360020-53360021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs554207681	chr13:53360024-53360025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs111624609	chr13:53360099-53360100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs187704378	chr13:53360109-53360110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536726518	chr13:53360201-53360202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs556707892	chr13:53360285-53360286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs141622309	chr13:53360372-53360373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	18632612	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Prostate cancer	19242612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	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
Melanoma	18172304	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Multiple myeloma	19135901	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Prostate cancer	16461572	CNVD
Merkel cell carcinoma	19020549	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21858162	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	17237825	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Glioblastoma multiforme	21922591	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Gastric cancer	17908304	CNVD
Breast cancer	18852474	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
Glioblastoma multiforme	22286061	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
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:53353800-53361000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr13:53356400-53361000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr13:53356800-53359400	Weak transcription	Brain Anterior Caudate	brain
4	chr13:53357200-53361200	Weak transcription	Brain Angular Gyrus	brain
5	chr13:53357400-53361400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:53357600-53359600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:53357600-53361400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr13:53358800-53359000	Enhancers	Brain Substantia Nigra	brain
9	chr13:53358800-53359600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:53358800-53362000	Enhancers	Brain Cingulate Gyrus	brain
11	chr13:53359000-53359400	Weak transcription	Brain Substantia Nigra	brain
12	chr13:53359200-53361600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:53359400-53362000	Enhancers	Brain Anterior Caudate	brain
14	chr13:53359400-53362200	Enhancers	Brain Hippocampus Middle	brain
15	chr13:53359400-53362400	Enhancers	Brain Substantia Nigra	brain
16	chr13:53359600-53360400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr13:53359600-53361800	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:53359600-53362000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:53359600-53362200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr13:53359800-53360000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr13:53360000-53360400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:53360000-53360400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:53360000-53360800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr13:53360000-53362000	Enhancers	HMEC	breast
25	chr13:53360400-53361800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr13:53360800-53362400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr13:53361000-53361600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr13:53361000-53361800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr13:53361000-53362000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:53361000-53362600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr13:53361200-53361800	Enhancers	Brain Angular Gyrus	brain
32	chr13:53361200-53362400	Enhancers	H1 Cell Line	embryonic stem cell
33	chr13:53361400-53361600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr13:53361400-53362000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr13:53361400-53362400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr13:53361400-53362600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr13:53361600-53362400	Enhancers	H9 Cell Line	embryonic stem cell
38	chr13:53361600-53362400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr13:53361800-53362200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr13:53361800-53362200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr13:53362000-53362600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr13:53362200-53362400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:53362200-53362400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:53362400-53362600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr13:53362400-53364200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:53362600-53363400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr13:53362600-53364800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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