Variant report

Variant	esv3471322
Chromosome Location	chr5:107272245-107273073
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200890936	chr5:107272251-107272252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143141024	chr5:107272255-107272256	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs58144302	chr5:107272260-107272261	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577388157	chr5:107272274-107272275	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540084689	chr5:107272296-107272297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1835977	chr5:107272324-107272325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576382131	chr5:107272378-107272379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76825248	chr5:107272379-107272380	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541863244	chr5:107272384-107272385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368824339	chr5:107272412-107272413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572237949	chr5:107272490-107272491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541151196	chr5:107272503-107272504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564275296	chr5:107272510-107272511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs373433665	chr5:107272511-107272512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4957729	chr5:107272535-107272536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs73780462	chr5:107272556-107272557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs550000886	chr5:107272557-107272558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574317597	chr5:107272665-107272666	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12657654	chr5:107272715-107272716	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528871489	chr5:107272729-107272730	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs549033448	chr5:107272757-107272758	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs565758689	chr5:107272802-107272803	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs534679084	chr5:107272827-107272828	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs535373796	chr5:107272838-107272839	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs377416345	chr5:107272845-107272846	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs551510225	chr5:107272879-107272880	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs570978992	chr5:107272904-107272905	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs547915303	chr5:107272907-107272908	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs566498883	chr5:107272908-107272909	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73202567	chr5:107272967-107272968	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs113426786	chr5:107272980-107272981	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs535437526	chr5:107272983-107272984	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs555315613	chr5:107272994-107272995	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:107261400-107286600	Weak transcription	Aorta	Aorta
2	chr5:107261800-107273400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:107263000-107272400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr5:107265800-107284200	Weak transcription	Primary T cells from cord blood	blood
5	chr5:107267400-107273800	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr5:107267800-107273400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:107268600-107273800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr5:107268800-107273200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:107268800-107273200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:107269800-107273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:107269800-107275200	Weak transcription	Primary B cells from cord blood	blood
12	chr5:107270800-107272800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:107271000-107273600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:107271000-107273800	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr5:107271000-107274400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:107271200-107273400	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr5:107271200-107274600	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr5:107271400-107273600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr5:107271400-107274200	Enhancers	HepG2	liver
20	chr5:107271600-107272800	Weak transcription	Fetal Brain Female	brain
21	chr5:107271800-107272800	Weak transcription	Fetal Brain Male	brain
22	chr5:107272000-107273000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:107272000-107274000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr5:107272200-107272400	Enhancers	Psoas Muscle	Psoas
25	chr5:107272200-107273400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr5:107272200-107273800	Enhancers	Brain Anterior Caudate	brain
27	chr5:107272200-107274200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr5:107272400-107272600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr5:107272400-107273800	Enhancers	Fetal Kidney	kidney
30	chr5:107272600-107272800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr5:107272800-107273000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr5:107272800-107273200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr5:107272800-107273800	Enhancers	Fetal Brain Male	brain
34	chr5:107272800-107274000	Enhancers	Brain Germinal Matrix	brain
35	chr5:107272800-107274000	Enhancers	Fetal Heart	heart
36	chr5:107272800-107274600	Enhancers	Fetal Brain Female	brain
37	chr5:107273000-107273200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:107273000-107273600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr5:107273000-107273600	Enhancers	Fetal Intestine Small	intestine
40	chr5:107273000-107275000	Enhancers	Fetal Lung	lung

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