Variant report

Variant	esv3351259
Chromosome Location	chr13:39926252-39928150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375338504	chr13:39926274-39926275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs113408378	chr13:39926323-39926324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138102842	chr13:39926356-39926357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566601200	chr13:39926370-39926371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570017983	chr13:39926393-39926394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375757906	chr13:39926486-39926487	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs73467374	chr13:39926492-39926493	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs75386017	chr13:39926504-39926505	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539628098	chr13:39926517-39926518	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375673047	chr13:39926522-39926523	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544183898	chr13:39926534-39926535	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533876205	chr13:39926543-39926544	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553779500	chr13:39926584-39926585	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187554300	chr13:39926627-39926628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375833831	chr13:39926699-39926700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs114845724	chr13:39926720-39926721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112525249	chr13:39926913-39926914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10602396	chr13:39926959-39926960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369533511	chr13:39926962-39926963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs74208376	chr13:39926969-39926970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66797479	chr13:39926970-39926971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9548740	chr13:39926974-39926975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576180886	chr13:39926978-39926979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs71077227	chr13:39926984-39926985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9548741	chr13:39926998-39926999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs9548742	chr13:39927002-39927003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58916234	chr13:39927003-39927004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72372943	chr13:39927004-39927005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552111695	chr13:39927015-39927016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11618435	chr13:39927029-39927030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372852694	chr13:39927030-39927031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377073801	chr13:39927046-39927047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs9548743	chr13:39927054-39927055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370931682	chr13:39927058-39927059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59115905	chr13:39927060-39927061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368827916	chr13:39927062-39927063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373003253	chr13:39927064-39927065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200558788	chr13:39927073-39927074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58040702	chr13:39927074-39927075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71423195	chr13:39927078-39927079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12877350	chr13:39927084-39927085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11618438	chr13:39927087-39927088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9548744	chr13:39927091-39927092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9594328	chr13:39927097-39927098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs11617268	chr13:39927107-39927108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374747296	chr13:39927109-39927110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs183323018	chr13:39927111-39927112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs368085948	chr13:39927126-39927127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111476665	chr13:39927367-39927368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556035042	chr13:39927368-39927369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Breast cancer	22522925	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:39916200-39928000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:39916800-39928000	Weak transcription	NHDF-Ad	bronchial
3	chr13:39918200-39928000	Weak transcription	Esophagus	oesophagus
4	chr13:39923000-39926400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:39924000-39926600	Weak transcription	Lung	lung
6	chr13:39924000-39928000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:39925000-39928000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:39925000-39928000	Weak transcription	Osteobl	bone
9	chr13:39925200-39926800	Enhancers	Fetal Heart	heart
10	chr13:39925200-39928000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:39925200-39928600	Weak transcription	Fetal Lung	lung
12	chr13:39925200-39936800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr13:39925200-39938600	Weak transcription	Aorta	Aorta
14	chr13:39925400-39926400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:39925400-39928000	Weak transcription	Adipose Nuclei	Adipose
16	chr13:39925400-39928000	Weak transcription	Right Ventricle	heart
17	chr13:39925400-39929200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr13:39925600-39928800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr13:39926200-39926400	Enhancers	H9 Cell Line	embryonic stem cell
20	chr13:39926200-39926400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr13:39926200-39926600	Enhancers	Fetal Muscle Leg	muscle
22	chr13:39926200-39926800	Enhancers	Left Ventricle	heart
23	chr13:39926200-39926800	Enhancers	Right Atrium	heart
24	chr13:39926400-39926600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr13:39926400-39926600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:39926400-39929800	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr13:39926600-39926800	Enhancers	Lung	lung
28	chr13:39926800-39928000	Weak transcription	Fetal Heart	heart
29	chr13:39926800-39928000	Weak transcription	Left Ventricle	heart
30	chr13:39926800-39928000	Weak transcription	Right Atrium	heart
31	chr13:39927800-39928000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:39927800-39928400	Enhancers	NHEK	skin
33	chr13:39928000-39928200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:39928000-39928200	Genic enhancers	Left Ventricle	heart
35	chr13:39928000-39928400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr13:39928000-39928400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr13:39928000-39928400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:39928000-39928400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:39928000-39928400	Enhancers	Esophagus	oesophagus
40	chr13:39928000-39928400	Enhancers	Right Atrium	heart
41	chr13:39928000-39928400	Enhancers	Right Ventricle	heart
42	chr13:39928000-39928400	Enhancers	HMEC	breast
43	chr13:39928000-39928400	Enhancers	Osteobl	bone
44	chr13:39928000-39928600	Enhancers	Adipose Nuclei	Adipose
45	chr13:39928000-39928800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr13:39928000-39928800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr13:39928000-39928800	Enhancers	NHDF-Ad	bronchial
48	chr13:39928000-39929200	Enhancers	Fetal Heart	heart

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