Variant report

Variant	esv1983383
Chromosome Location	chr5:16524834-16525185
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:16522409..16525329-chr5:16526389..16528895,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 90 )

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	rs573789172	chr5:16524847-16524848	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561406137	chr5:16524860-16524861	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531257803	chr5:16524900-16524901	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs528581009	chr5:16524903-16524904	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs12657673	chr5:16524914-16524915	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538018657	chr5:16524916-16524917	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540195882	chr5:16524917-16524918	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564932446	chr5:16524925-16524926	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs145046994	chr5:16524952-16524953	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550444220	chr5:16524967-16524968	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs569072981	chr5:16524970-16524971	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs28588273	chr5:16524972-16524973	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs13169278	chr5:16524973-16524974	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs693889	chr5:16524982-16524983	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs181347849	chr5:16524983-16524984	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2617431	chr5:16524986-16524987	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs28729579	chr5:16524994-16524995	Weak transcription Genic enhancers Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73753080	chr5:16525001-16525002	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552349966	chr5:16525022-16525023	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs70938056	chr5:16525023-16525024	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs2596383	chr5:16525024-16525025	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs12657659	chr5:16525038-16525039	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2596384	chr5:16525046-16525047	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs3097224	chr5:16525054-16525055	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13169043	chr5:16525057-16525058	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113246155	chr5:16525086-16525087	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs13169037	chr5:16525090-16525091	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570442534	chr5:16525094-16525095	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13189201	chr5:16525098-16525099	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62369718	chr5:16525108-16525109	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs377590937	chr5:16525160-16525161	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537877873	chr5:16525174-16525175	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7445624	chr5:16525179-16525180	Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
2	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:16520200-16525000	Weak transcription	Gastric	stomach
5	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:16522200-16525400	Weak transcription	Lung	lung
7	chr5:16522200-16528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr5:16522400-16529000	Weak transcription	Stomach Mucosa	stomach
9	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr5:16522600-16528400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr5:16522600-16530000	Weak transcription	Right Atrium	heart
12	chr5:16523000-16525000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr5:16523400-16525800	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
17	chr5:16523800-16528600	Weak transcription	Fetal Intestine Large	intestine
18	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr5:16524000-16525600	Enhancers	Left Ventricle	heart
21	chr5:16524000-16525800	Enhancers	Fetal Brain Male	brain
22	chr5:16524000-16526400	Enhancers	Primary T cells fromperipheralblood	blood
23	chr5:16524200-16525000	Enhancers	Brain Angular Gyrus	brain
24	chr5:16524200-16525000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:16524200-16526200	Genic enhancers	Primary T cells from cord blood	blood
26	chr5:16524200-16526600	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:16524200-16528600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr5:16524200-16528600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr5:16524400-16525600	Weak transcription	Fetal Intestine Small	intestine
30	chr5:16524400-16526000	Weak transcription	Fetal Heart	heart
31	chr5:16524400-16526400	Weak transcription	Colonic Mucosa	Colon
32	chr5:16524400-16526800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr5:16524400-16529600	Weak transcription	Psoas Muscle	Psoas
34	chr5:16524400-16529800	Weak transcription	Brain Substantia Nigra	brain
35	chr5:16524600-16525000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:16524600-16525800	Enhancers	Fetal Muscle Leg	muscle
37	chr5:16524600-16526200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr5:16524600-16531800	Weak transcription	Small Intestine	intestine
39	chr5:16524600-16533800	Weak transcription	Right Ventricle	heart
40	chr5:16524800-16525000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:16524800-16525200	Enhancers	Fetal Brain Female	brain
42	chr5:16524800-16525800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr5:16524800-16527200	Strong transcription	Thymus	Thymus
44	chr5:16525000-16525200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr5:16525000-16525200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
46	chr5:16525000-16525600	Enhancers	Gastric	stomach
47	chr5:16525000-16528600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:16525000-16528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr5:16525000-16529800	Weak transcription	Brain Angular Gyrus	brain
50	chr5:16525000-16540800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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