Variant report

Variant	esv3337679
Chromosome Location	chr13:40137781-40138289
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7987557	chr13:40137786-40137787	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs202121408	chr13:40137787-40137788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377376323	chr13:40137788-40137789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182642734	chr13:40137793-40137794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373578281	chr13:40137820-40137821	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7987701	chr13:40137822-40137823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs540227683	chr13:40137887-40137888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554329947	chr13:40137953-40137954	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs9548825	chr13:40138008-40138009	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs139406764	chr13:40138018-40138019	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs565066074	chr13:40138026-40138027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142720171	chr13:40138064-40138065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573612139	chr13:40138080-40138081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117840084	chr13:40138094-40138095	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4943677	chr13:40138139-40138140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185820670	chr13:40138150-40138151	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150975005	chr13:40138170-40138171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558251381	chr13:40138186-40138187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532064780	chr13:40138195-40138196	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs139581187	chr13:40138198-40138199	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569110222	chr13:40138239-40138240	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs538011773	chr13:40138256-40138257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372518474	chr13:40138260-40138261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371987959	chr13:40138261-40138262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200094270	chr13:40138262-40138263	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
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
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
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
Glioma	17146433	CNVD
Malignant glioma	17146433	CNVD
Sudden cardiac death	19188705	CNVD
Primary mediastinal b-cell lymphoma	17728785	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

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40107800-40140200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr13:40129000-40145600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:40129000-40152800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr13:40130000-40139600	Weak transcription	Fetal Stomach	stomach
5	chr13:40131000-40138600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:40131000-40138600	Weak transcription	Adipose Nuclei	Adipose
7	chr13:40132200-40145600	Weak transcription	Fetal Muscle Trunk	muscle
8	chr13:40133800-40138000	Weak transcription	Aorta	Aorta
9	chr13:40133800-40138200	Weak transcription	Brain Substantia Nigra	brain
10	chr13:40134000-40139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:40134200-40139800	Weak transcription	Fetal Muscle Leg	muscle
12	chr13:40135400-40138000	Weak transcription	Left Ventricle	heart
13	chr13:40135400-40139600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:40135400-40139800	Weak transcription	Right Atrium	heart
15	chr13:40135800-40137800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:40135800-40139200	Enhancers	NHEK	skin
17	chr13:40135800-40139400	Enhancers	HMEC	breast
18	chr13:40135800-40142000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr13:40135800-40145600	Weak transcription	Lung	lung
20	chr13:40136000-40138600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr13:40136200-40138600	Enhancers	HSMMtube	muscle
22	chr13:40136200-40138800	Enhancers	NHDF-Ad	bronchial
23	chr13:40136200-40139000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr13:40136200-40139600	Enhancers	HSMM	muscle
25	chr13:40136400-40145600	Weak transcription	Right Ventricle	heart
26	chr13:40136800-40138800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:40136800-40138800	Enhancers	Muscle Satellite Cultured Cells	--
28	chr13:40136800-40139000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:40136800-40139000	Enhancers	Osteobl	bone
30	chr13:40136800-40140800	Enhancers	Ovary	ovary
31	chr13:40136800-40141200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr13:40137000-40138800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr13:40137000-40139200	Enhancers	NH-A	brain
34	chr13:40137000-40139400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr13:40137000-40139600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr13:40137000-40139600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:40137000-40139600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr13:40137000-40140600	Enhancers	Fetal Heart	heart
39	chr13:40137200-40138000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr13:40137200-40138400	Enhancers	NHLF	lung
41	chr13:40137200-40138600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr13:40137200-40139400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr13:40137400-40137800	Enhancers	Brain Cingulate Gyrus	brain
44	chr13:40137400-40138000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:40137400-40138800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr13:40137400-40139200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr13:40137400-40139200	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr13:40137600-40137800	Enhancers	Fetal Brain Female	brain
49	chr13:40137600-40138200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr13:40137600-40138200	Enhancers	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links