Variant report

Variant	esv2525217
Chromosome Location	chr5:36923901-36925158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36887613..36889354-chr5:36924858..36926395,2	MCF-7	breast:
2	chr5:36919106..36920877-chr5:36923697..36925234,2	K562	blood:
3	chr5:36875375..36878112-chr5:36925143..36928477,3	MCF-7	breast:
4	chr5:36924372..36926540-chr5:36962158..36964859,2	K562	blood:
5	chr5:36910368..36911914-chr5:36922337..36924698,2	MCF-7	breast:
6	chr5:36878820..36881398-chr5:36921398..36924147,2	K562	blood:
7	chr5:36919106..36922235-chr5:36923697..36927353,5	K562	blood:

Variant related genes	Relation type
ENSG00000164190	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373303745	chr5:36923929-36923930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56974222	chr5:36923941-36923942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570438934	chr5:36923950-36923951	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537513306	chr5:36923967-36923968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369003031	chr5:36924009-36924010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555862933	chr5:36924013-36924014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs574247051	chr5:36924020-36924021	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs535304904	chr5:36924021-36924022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187418339	chr5:36924041-36924042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572332822	chr5:36924059-36924060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545861926	chr5:36924095-36924096	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564467117	chr5:36924102-36924103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192988116	chr5:36924156-36924157	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530497502	chr5:36924217-36924218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534616850	chr5:36924227-36924228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112058020	chr5:36924243-36924244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs562171031	chr5:36924282-36924283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs183275474	chr5:36924283-36924284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548058818	chr5:36924290-36924291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188104737	chr5:36924335-36924336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs72734690	chr5:36924351-36924352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs201477524	chr5:36924404-36924405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs149575372	chr5:36924458-36924459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529524081	chr5:36924463-36924464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs373155487	chr5:36924490-36924491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570401481	chr5:36924496-36924497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192576739	chr5:36924543-36924544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs531211552	chr5:36924677-36924678	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566258618	chr5:36924698-36924699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549454791	chr5:36924733-36924734	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567860613	chr5:36924767-36924768	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs535249104	chr5:36924820-36924821	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs183865288	chr5:36924891-36924892	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs565749111	chr5:36924908-36924909	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs189274559	chr5:36924933-36924934	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs144122151	chr5:36924973-36924974	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs576463497	chr5:36924988-36924989	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543879818	chr5:36925019-36925020	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555896114	chr5:36925068-36925069	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs192544418	chr5:36925148-36925149	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Bladder cancer	21909424	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
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Lung cancer	19153074	CNVD
Breast cancer	21364760	CNVD
Cornelia de Lange syndrome	21085971	CNVD
Autism	21701786	CNVD
Cervical cancer	16585170	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36895800-36928600	Weak transcription	HSMM	muscle
2	chr5:36899000-36926400	Weak transcription	Gastric	stomach
3	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
4	chr5:36907400-36928600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:36907400-36938200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:36910200-36928000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr5:36911200-36928600	Weak transcription	A549	lung
8	chr5:36911600-36928600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:36913000-36925800	Weak transcription	Primary T cells from cord blood	blood
10	chr5:36913800-36931400	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:36919600-36928000	Weak transcription	Ovary	ovary
12	chr5:36919600-36928000	Weak transcription	Small Intestine	intestine
13	chr5:36919600-36931400	Weak transcription	Left Ventricle	heart
14	chr5:36919600-36938200	Weak transcription	Pancreas	Pancrea
15	chr5:36919800-36925800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr5:36919800-36926200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr5:36919800-36953000	Weak transcription	Primary B cells from peripheral blood	blood
18	chr5:36919800-36961600	Weak transcription	K562	blood
19	chr5:36920000-36928200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:36920000-36928600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr5:36920400-36951400	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:36921000-36924000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr5:36921000-36925800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr5:36921600-36924000	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr5:36921600-36925600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr5:36921600-36926600	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:36921600-36929200	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr5:36921600-36931600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr5:36921800-36924600	Weak transcription	Fetal Heart	heart
30	chr5:36921800-36924800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr5:36923200-36924600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr5:36923200-36925200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr5:36923200-36926000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr5:36923400-36924000	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr5:36923400-36931400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:36923600-36925000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:36923600-36943600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:36923800-36924000	Enhancers	Duodenum Mucosa	Duodenum
39	chr5:36923800-36924200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:36924000-36924800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr5:36924000-36925000	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:36924000-36925400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr5:36924200-36927600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:36924600-36924800	Enhancers	Duodenum Mucosa	Duodenum
45	chr5:36924600-36925200	Genic enhancers	Primary T helper cells PMA-I stimulated	--
46	chr5:36924600-36925200	Enhancers	Fetal Heart	heart
47	chr5:36924600-36943600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:36924800-36931000	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:36924800-36933000	Weak transcription	Aorta	Aorta
50	chr5:36924800-36939000	Weak transcription	Fetal Thymus	thymus

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