Variant report

Variant	esv3412737
Chromosome Location	chr5:58717969-58718941
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 97 )

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	rs546460960	chr5:58718016-58718017	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs1990985	chr5:58718022-58718023	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs571591504	chr5:58718051-58718052	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147707476	chr5:58718102-58718103	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182791108	chr5:58718189-58718190	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562131975	chr5:58718400-58718401	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187397268	chr5:58718436-58718437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544770558	chr5:58718437-58718438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556990136	chr5:58718464-58718465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115081875	chr5:58718480-58718481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs142549020	chr5:58718489-58718490	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111847670	chr5:58718503-58718504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs150210575	chr5:58718537-58718538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528043691	chr5:58718587-58718588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547802883	chr5:58718651-58718652	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2607348	chr5:58718731-58718732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs567768522	chr5:58718747-58718748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2702374	chr5:58718748-58718749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs536757184	chr5:58718837-58718838	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191524633	chr5:58718846-58718847	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570671301	chr5:58718862-58718863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539330198	chr5:58718878-58718879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182679936	chr5:58718901-58718902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187589696	chr5:58718925-58718926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531923719	chr5:58718931-58718932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58705600-58751400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr5:58708600-58718200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr5:58709800-58756800	Weak transcription	Aorta	Aorta
4	chr5:58712400-58719600	Weak transcription	Psoas Muscle	Psoas
5	chr5:58712600-58718000	Weak transcription	Fetal Lung	lung
6	chr5:58714200-58718200	Weak transcription	Fetal Brain Female	brain
7	chr5:58714600-58718000	Weak transcription	Fetal Heart	heart
8	chr5:58714800-58731000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:58715400-58718000	Strong transcription	A549	lung
10	chr5:58715400-58718400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr5:58715800-58718400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:58716000-58756600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:58716200-58722800	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:58717000-58719200	Weak transcription	Fetal Brain Male	brain
15	chr5:58717000-58719400	Enhancers	Fetal Intestine Small	intestine
16	chr5:58717400-58719800	Enhancers	Fetal Intestine Large	intestine
17	chr5:58717800-58718200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:58717800-58718200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr5:58717800-58718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:58717800-58718600	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr5:58717800-58719400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:58717800-58719600	Enhancers	Duodenum Mucosa	Duodenum
23	chr5:58718000-58718200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr5:58718000-58718200	Genic enhancers	A549	lung
25	chr5:58718000-58718400	Enhancers	Small Intestine	intestine
26	chr5:58718000-58718600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr5:58718000-58718600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr5:58718000-58719200	Enhancers	Fetal Heart	heart
29	chr5:58718000-58719200	Enhancers	Fetal Lung	lung
30	chr5:58718000-58720000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:58718200-58718400	Enhancers	Fetal Brain Female	brain
32	chr5:58718200-58718400	Strong transcription	A549	lung
33	chr5:58718200-58718600	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:58718200-58719400	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:58718200-58719400	Weak transcription	HSMMtube	muscle
36	chr5:58718200-58719800	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:58718400-58718800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr5:58718400-58718800	Weak transcription	A549	lung
39	chr5:58718400-58719000	Weak transcription	Fetal Brain Female	brain
40	chr5:58718400-58720600	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr5:58718400-58721800	Weak transcription	Small Intestine	intestine
42	chr5:58718800-58719000	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr5:58718800-58719800	Enhancers	A549	lung
44	chr5:58718800-58721800	Weak transcription	Pancreas	Pancrea

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