Variant report

Variant	esv2428792
Chromosome Location	chr13:40028048-40029641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77590925	chr13:40028084-40028085	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527593123	chr13:40028092-40028093	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs147334764	chr13:40028096-40028097	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs545063642	chr13:40028117-40028118	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs200722867	chr13:40028152-40028153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142669819	chr13:40028153-40028154	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs202075157	chr13:40028156-40028157	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564156661	chr13:40028236-40028237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375593908	chr13:40028282-40028283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368769395	chr13:40028291-40028292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549761873	chr13:40028299-40028300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569788445	chr13:40028321-40028322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528949351	chr13:40028333-40028334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549608836	chr13:40028337-40028338	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566264664	chr13:40028338-40028339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535372961	chr13:40028461-40028462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs371053428	chr13:40028481-40028482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs201884320	chr13:40028482-40028483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9548775	chr13:40028548-40028549	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34225033	chr13:40028555-40028556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs551806286	chr13:40028610-40028611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs558142982	chr13:40028627-40028628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57933417	chr13:40028766-40028767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71077299	chr13:40028790-40028791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12860468	chr13:40028858-40028859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375077748	chr13:40028940-40028941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7330999	chr13:40029035-40029036	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs537068516	chr13:40029073-40029074	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556911178	chr13:40029082-40029083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs371644665	chr13:40029115-40029116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541506316	chr13:40029121-40029122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7326279	chr13:40029146-40029147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7325544	chr13:40029153-40029154	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs183857175	chr13:40029171-40029172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369587554	chr13:40029186-40029187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572720304	chr13:40029216-40029217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs58178360	chr13:40029241-40029242	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs140883759	chr13:40029250-40029251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs543444823	chr13:40029263-40029264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs144843883	chr13:40029309-40029310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs529039287	chr13:40029338-40029339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549095261	chr13:40029362-40029363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs566289808	chr13:40029407-40029408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs555762647	chr13:40029411-40029412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551918342	chr13:40029412-40029413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs114812641	chr13:40029417-40029418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537702993	chr13:40029427-40029428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576294745	chr13:40029444-40029445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553946759	chr13:40029458-40029459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74483846	chr13:40029479-40029480	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Retinoblastoma	21504564	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Mental retardation	17502991	CNVD
Retinoblastoma	17502991	CNVD
Bipolar disorder	18458673	CNVD
Liposarcoma	21253554	CNVD
T-cell lymphomas	19863542	CNVD
Cervical cancer	21062161	CNVD
microdeletion syndrome	19284877	CNVD
Ovarian cancer	22355333	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40022000-40029200	Weak transcription	Spleen	Spleen
2	chr13:40023400-40035000	Weak transcription	Aorta	Aorta
3	chr13:40024600-40028200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr13:40024600-40028200	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr13:40025400-40028200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:40025600-40028200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:40025600-40028200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr13:40025600-40033400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr13:40026000-40028200	Enhancers	Ovary	ovary
10	chr13:40026600-40028200	Enhancers	Left Ventricle	heart
11	chr13:40026600-40028200	Enhancers	Right Ventricle	heart
12	chr13:40026600-40029400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:40026600-40029600	Weak transcription	HSMM	muscle
14	chr13:40026600-40033400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr13:40026800-40029200	Weak transcription	Lung	lung
16	chr13:40027000-40028200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr13:40027000-40028200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr13:40027000-40028200	Enhancers	Rectal Smooth Muscle	rectum
19	chr13:40027200-40033200	Weak transcription	HSMMtube	muscle
20	chr13:40027400-40029400	Weak transcription	Brain Substantia Nigra	brain
21	chr13:40027400-40029600	Weak transcription	Fetal Lung	lung
22	chr13:40027400-40033400	Weak transcription	Fetal Muscle Leg	muscle
23	chr13:40027600-40029400	Weak transcription	Brain Anterior Caudate	brain
24	chr13:40027600-40030200	Weak transcription	Adipose Nuclei	Adipose
25	chr13:40027800-40028200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr13:40027800-40028200	Flanking Active TSS	Fetal Heart	heart
27	chr13:40027800-40028200	Enhancers	Right Atrium	heart
28	chr13:40028000-40028200	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr13:40028000-40028200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr13:40028000-40028200	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr13:40028000-40028400	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:40028000-40029200	Weak transcription	Psoas Muscle	Psoas
33	chr13:40028000-40029400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:40028000-40029600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr13:40028000-40029800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr13:40028000-40030200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr13:40028200-40029200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr13:40028200-40029200	Weak transcription	Left Ventricle	heart
39	chr13:40028200-40029200	Weak transcription	Right Atrium	heart
40	chr13:40028200-40029200	Weak transcription	Right Ventricle	heart
41	chr13:40028200-40029600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr13:40028200-40029800	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:40028200-40030000	Weak transcription	Rectal Smooth Muscle	rectum
44	chr13:40028200-40030600	Enhancers	Fetal Heart	heart
45	chr13:40028200-40031200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:40028200-40032400	Weak transcription	Ovary	ovary
47	chr13:40028200-40032600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr13:40028200-40033200	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr13:40029200-40029400	Enhancers	Lung	lung
50	chr13:40029200-40029400	Enhancers	Psoas Muscle	Psoas

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