Variant report

Variant	esv3448811
Chromosome Location	chr5:16523553-16524147
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:16522409..16525329-chr5:16526389..16528895,4	K562	blood:
2	chr5:16521375..16523909-chr5:16526389..16530359,4	K562	blood:
3	chr5:16514469..16516231-chr5:16522718..16524786,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562181875	chr5:16523555-16523556	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529471328	chr5:16523571-16523572	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs139583063	chr5:16523581-16523582	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142887232	chr5:16523602-16523603	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77901545	chr5:16523604-16523605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs567650914	chr5:16523652-16523653	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34344458	chr5:16523666-16523667	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs150609351	chr5:16523685-16523686	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189489878	chr5:16523696-16523697	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs568980181	chr5:16523756-16523757	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs539464929	chr5:16523774-16523775	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs577424083	chr5:16523775-16523776	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs80297188	chr5:16523840-16523841	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs114261541	chr5:16523860-16523861	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568751545	chr5:16523884-16523885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551323932	chr5:16523946-16523947	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536341070	chr5:16523953-16523954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554395976	chr5:16523961-16523962	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs572780535	chr5:16523964-16523965	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369089025	chr5:16524038-16524039	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539861221	chr5:16524077-16524078	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs74386166	chr5:16524090-16524091	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs578250425	chr5:16524091-16524092	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs371646797	chr5:16524092-16524093	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574827143	chr5:16524114-16524115	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs193191035	chr5:16524145-16524146	Bivalent Enhancer Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16509200-16524200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr5:16509600-16528800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:16516000-16540800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:16519800-16531400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr5:16520000-16524000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:16520200-16524000	Weak transcription	Brain Substantia Nigra	brain
7	chr5:16520200-16524200	Weak transcription	Brain Angular Gyrus	brain
8	chr5:16520200-16525000	Weak transcription	Gastric	stomach
9	chr5:16520600-16524800	Weak transcription	Thymus	Thymus
10	chr5:16521000-16524400	Enhancers	Fetal Heart	heart
11	chr5:16521400-16523600	Enhancers	Colonic Mucosa	Colon
12	chr5:16521400-16523600	Enhancers	Fetal Intestine Small	intestine
13	chr5:16521600-16523800	Enhancers	Fetal Intestine Large	intestine
14	chr5:16521600-16539600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:16521800-16523600	Enhancers	Pancreas	Pancrea
16	chr5:16522000-16524200	Strong transcription	Primary T cells from cord blood	blood
17	chr5:16522200-16524000	Weak transcription	Right Ventricle	heart
18	chr5:16522200-16525400	Weak transcription	Lung	lung
19	chr5:16522200-16528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:16522400-16524000	Weak transcription	Left Ventricle	heart
21	chr5:16522400-16524200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr5:16522400-16524200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:16522400-16529000	Weak transcription	Stomach Mucosa	stomach
24	chr5:16522400-16567400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr5:16522600-16528400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr5:16522600-16530000	Weak transcription	Right Atrium	heart
27	chr5:16523000-16524400	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr5:16523000-16525000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr5:16523200-16523600	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr5:16523200-16524600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr5:16523200-16524800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:16523400-16523600	Enhancers	HepG2	liver
33	chr5:16523400-16525800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:16523400-16540800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr5:16523600-16523800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr5:16523600-16523800	Enhancers	Fetal Brain Female	brain
37	chr5:16523600-16524000	Weak transcription	Fetal Intestine Small	intestine
38	chr5:16523600-16524200	Weak transcription	Colonic Mucosa	Colon
39	chr5:16523600-16533800	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr5:16523600-16535400	Weak transcription	Pancreas	Pancrea
41	chr5:16523800-16524800	Weak transcription	Fetal Brain Female	brain
42	chr5:16523800-16528600	Weak transcription	Fetal Intestine Large	intestine
43	chr5:16523800-16539000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:16523800-16540800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr5:16524000-16524200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr5:16524000-16524200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:16524000-16524200	Enhancers	Stomach Smooth Muscle	stomach
48	chr5:16524000-16524400	Enhancers	Brain Substantia Nigra	brain
49	chr5:16524000-16524400	Genic enhancers	Fetal Intestine Small	intestine
50	chr5:16524000-16524400	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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