Variant report

Variant	esv33028
Chromosome Location	chr13:40238180-40239010
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4305	chr13:40238245-40238262	MIMAT0016857

Extended variants
information (count: 37 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535578137	chr13:40238201-40238202	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529260984	chr13:40238212-40238213	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545957592	chr13:40238232-40238233	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138201016	chr13:40238256-40238257	Weak transcription Strong transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
5	rs149597993	chr13:40238257-40238258	Weak transcription Strong transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
6	rs4636784	chr13:40238258-40238259	Weak transcription Strong transcription Enhancers	miRNA	n/a	Overlapped CNVs	n/a
7	rs527614474	chr13:40238331-40238332	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs547155235	chr13:40238382-40238383	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4566029	chr13:40238387-40238388	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs532996427	chr13:40238437-40238438	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549620929	chr13:40238446-40238447	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs114612224	chr13:40238457-40238458	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs386770240	chr13:40238481-40238482	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs112265534	chr13:40238482-40238483	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs9548872	chr13:40238483-40238484	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs566364593	chr13:40238489-40238490	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs9548873	chr13:40238492-40238493	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs558357789	chr13:40238493-40238494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs578115856	chr13:40238505-40238506	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567605471	chr13:40238507-40238508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544033509	chr13:40238566-40238567	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs554145616	chr13:40238591-40238592	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144218185	chr13:40238621-40238622	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4551909	chr13:40238649-40238650	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs542640405	chr13:40238661-40238662	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559337789	chr13:40238664-40238665	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9315722	chr13:40238691-40238692	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs75575490	chr13:40238735-40238736	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74565664	chr13:40238780-40238781	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138813356	chr13:40238833-40238834	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4275735	chr13:40238841-40238842	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs141804859	chr13:40238889-40238890	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4514547	chr13:40238899-40238900	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs575214820	chr13:40238932-40238933	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529021797	chr13:40238965-40238966	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548968148	chr13:40238999-40239000	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4277227	chr13:40239003-40239004	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:110)

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
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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:40230600-40252200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:40230600-40254600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr13:40230600-40254600	Weak transcription	Lung	lung
4	chr13:40230600-40254800	Weak transcription	Aorta	Aorta
5	chr13:40230600-40263800	Weak transcription	Spleen	Spleen
6	chr13:40230800-40238800	Weak transcription	Fetal Kidney	kidney
7	chr13:40230800-40238800	Weak transcription	HSMM	muscle
8	chr13:40230800-40239400	Weak transcription	HSMMtube	muscle
9	chr13:40230800-40239600	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr13:40230800-40239800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr13:40230800-40240000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr13:40230800-40246600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:40230800-40254600	Weak transcription	Left Ventricle	heart
14	chr13:40230800-40254600	Weak transcription	Psoas Muscle	Psoas
15	chr13:40230800-40254800	Weak transcription	Fetal Thymus	thymus
16	chr13:40230800-40256400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr13:40230800-40258400	Weak transcription	Colonic Mucosa	Colon
18	chr13:40230800-40262000	Weak transcription	Thymus	Thymus
19	chr13:40230800-40275000	Weak transcription	Right Ventricle	heart
20	chr13:40231000-40238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:40231000-40239200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr13:40231000-40241600	Weak transcription	Hela-S3	cervix
23	chr13:40231000-40243800	Weak transcription	Fetal Heart	heart
24	chr13:40231000-40252200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:40231000-40252800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr13:40231000-40254400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr13:40231000-40254400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr13:40231000-40254600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:40231000-40254600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:40231000-40254600	Weak transcription	NHLF	lung
31	chr13:40231000-40256400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:40231000-40256400	Weak transcription	NHEK	skin
33	chr13:40231000-40257200	Weak transcription	HMEC	breast
34	chr13:40231000-40261800	Weak transcription	Brain Substantia Nigra	brain
35	chr13:40231000-40266200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr13:40231000-40270800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:40231000-40286000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr13:40231200-40239600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:40231200-40254400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr13:40231200-40254600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:40231200-40254800	Weak transcription	Fetal Stomach	stomach
42	chr13:40231400-40253600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr13:40231400-40254600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr13:40231400-40264200	Weak transcription	Esophagus	oesophagus
45	chr13:40231400-40268000	Weak transcription	Small Intestine	intestine
46	chr13:40231600-40239800	Weak transcription	GM12878-XiMat	blood
47	chr13:40231600-40254400	Weak transcription	Fetal Brain Male	brain
48	chr13:40231600-40270200	Weak transcription	Gastric	stomach
49	chr13:40231800-40252000	Weak transcription	Brain Angular Gyrus	brain
50	chr13:40232000-40239800	Weak transcription	Brain Germinal Matrix	brain

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