Variant report

Variant	esv2598107
Chromosome Location	chr13:48072196-48073748
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 121 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs546947832	chr13:48072202-48072203	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs565352057	chr13:48072205-48072206	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529714115	chr13:48072217-48072218	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs181980437	chr13:48072226-48072227	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs9591068	chr13:48072238-48072239	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs73183813	chr13:48072275-48072276	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs144530158	chr13:48072284-48072285	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4942644	chr13:48072414-48072415	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs534928135	chr13:48072417-48072418	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554177065	chr13:48072446-48072447	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs78903586	chr13:48072453-48072454	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs542687649	chr13:48072459-48072460	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs555035494	chr13:48072483-48072484	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs147860285	chr13:48072525-48072526	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148902861	chr13:48072549-48072550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs115016620	chr13:48072562-48072563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs532631804	chr13:48072664-48072665	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs541347791	chr13:48072707-48072708	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs559648693	chr13:48072749-48072750	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs201180393	chr13:48072890-48072891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77481982	chr13:48072892-48072893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs12867526	chr13:48072893-48072894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs369505030	chr13:48072894-48072895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs372581188	chr13:48072895-48072896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs572681803	chr13:48072896-48072897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529677952	chr13:48072908-48072909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541735026	chr13:48072929-48072930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186208918	chr13:48072931-48072932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563396140	chr13:48072938-48072939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs190667395	chr13:48072948-48072949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375629028	chr13:48073006-48073007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376353189	chr13:48073066-48073067	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs181552254	chr13:48073113-48073114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs570678151	chr13:48073129-48073130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs534838943	chr13:48073133-48073134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs55857069	chr13:48073141-48073142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568375388	chr13:48073149-48073150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs376338664	chr13:48073159-48073160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs375449494	chr13:48073204-48073205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536603948	chr13:48073205-48073206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs61951796	chr13:48073214-48073215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs114065324	chr13:48073257-48073258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77526488	chr13:48073259-48073260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191023644	chr13:48073310-48073311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558705273	chr13:48073347-48073348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532631886	chr13:48073361-48073362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372506131	chr13:48073388-48073389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs182911986	chr13:48073410-48073411	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs115188032	chr13:48073431-48073432	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs79346676	chr13:48073448-48073449	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:121)

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
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
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
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
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21670202	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	21088497	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	22048815	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Glioblastoma multiforme	21750150	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Phyllodes tumor	17334353	CNVD
Retinoblastoma	22278416	CNVD
Glioblastoma multiforme	19435819	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Acute myeloid leukemia	21251322	CNVD
Osteosarcoma	21215367	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48065400-48072600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:48071200-48072200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr13:48071200-48075200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr13:48071400-48072400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:48071400-48072400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr13:48071600-48072200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr13:48071600-48072200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr13:48071600-48073400	Enhancers	Hela-S3	cervix
9	chr13:48071800-48072200	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr13:48071800-48072800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr13:48071800-48073600	Enhancers	Primary hematopoietic stem cells	blood
12	chr13:48071800-48073600	Weak transcription	Brain Hippocampus Middle	brain
13	chr13:48072000-48072600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:48072000-48072800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr13:48072000-48072800	Enhancers	Primary B cells from peripheral blood	blood
16	chr13:48072000-48072800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr13:48072000-48072800	Enhancers	Spleen	Spleen
18	chr13:48072000-48073800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr13:48072200-48072400	Enhancers	Primary B cells from cord blood	blood
20	chr13:48072200-48072600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:48072200-48072800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr13:48072200-48072800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr13:48072200-48076400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr13:48072400-48072600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr13:48072400-48072600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr13:48072400-48072800	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr13:48072400-48073000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:48072400-48073400	Enhancers	Muscle Satellite Cultured Cells	--
29	chr13:48072600-48072800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:48072600-48072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr13:48072600-48074400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr13:48072600-48076200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr13:48072600-48076200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:48072800-48073400	Enhancers	Monocytes-CD14+_RO01746	blood
35	chr13:48072800-48073600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr13:48072800-48082600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr13:48073000-48073400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr13:48073200-48073400	Enhancers	NH-A	brain
39	chr13:48073200-48073600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr13:48073200-48073600	Enhancers	HMEC	breast
41	chr13:48073200-48074800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:48073400-48073600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr13:48073400-48073600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr13:48073400-48073600	Enhancers	Osteobl	bone
45	chr13:48073400-48073800	Flanking Active TSS	Hela-S3	cervix
46	chr13:48073400-48073800	Flanking Active TSS	NH-A	brain
47	chr13:48073400-48074000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr13:48073400-48074000	Enhancers	HSMMtube	muscle
49	chr13:48073400-48074400	Enhancers	NHEK	skin
50	chr13:48073400-48074600	Enhancers	NHDF-Ad	bronchial

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