Variant report

Variant	esv3400708
Chromosome Location	chr5:58466820-58469443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572420348	chr5:58466855-58466856	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs541127862	chr5:58466880-58466881	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs561436875	chr5:58466955-58466956	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62357969	chr5:58466987-58466988	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs543603597	chr5:58467000-58467001	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
6	rs79965863	chr5:58467031-58467032	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
7	rs556975210	chr5:58467081-58467082	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
8	rs532647770	chr5:58467104-58467105	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
9	rs552857734	chr5:58467128-58467129	Weak transcription Enhancers Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
10	rs564683493	chr5:58467210-58467211	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
11	rs527281554	chr5:58467212-58467213	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
12	rs547121067	chr5:58467233-58467234	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
13	rs567342450	chr5:58467280-58467281	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
14	rs536386839	chr5:58467363-58467364	Weak transcription Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
15	rs549979981	chr5:58467430-58467431	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569886897	chr5:58467458-58467459	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538899710	chr5:58467463-58467464	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558824053	chr5:58467464-58467465	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs568970393	chr5:58467466-58467467	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375024832	chr5:58467558-58467559	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs150595915	chr5:58467575-58467576	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532830132	chr5:58467581-58467582	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535014576	chr5:58467590-58467591	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11950544	chr5:58467592-58467593	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374001999	chr5:58467594-58467595	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs78395306	chr5:58467601-58467602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs36027270	chr5:58467634-58467635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376185236	chr5:58467659-58467660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs13187814	chr5:58467687-58467688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370793332	chr5:58467705-58467706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78397815	chr5:58467708-58467709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs10056445	chr5:58467742-58467743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201227879	chr5:58467754-58467755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs367686106	chr5:58467818-58467819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs373937588	chr5:58467822-58467823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28505210	chr5:58467839-58467840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28531774	chr5:58467840-58467841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574578771	chr5:58467844-58467845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs28508224	chr5:58467861-58467862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28680208	chr5:58467862-58467863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370897057	chr5:58467864-58467865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371482635	chr5:58467866-58467867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56850275	chr5:58467868-58467869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373684433	chr5:58467870-58467871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs58534519	chr5:58467872-58467873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11953985	chr5:58467877-58467878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs57457362	chr5:58467880-58467881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60624486	chr5:58467890-58467891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs58345393	chr5:58467898-58467899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60278827	chr5:58467899-58467900	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	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	17982442	CNVD
Gastric cancer	22315472	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:58439000-58484000	Weak transcription	Fetal Kidney	kidney
2	chr5:58447600-58473200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr5:58447600-58473400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:58447600-58479600	Weak transcription	Left Ventricle	heart
5	chr5:58449400-58473600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr5:58449800-58489400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:58454400-58472800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr5:58455200-58473400	Weak transcription	Fetal Muscle Leg	muscle
9	chr5:58455800-58473600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr5:58457800-58473400	Weak transcription	Fetal Intestine Small	intestine
11	chr5:58459400-58473400	Weak transcription	Fetal Stomach	stomach
12	chr5:58460000-58472600	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr5:58460800-58469400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:58461000-58484200	Weak transcription	HUVEC	blood vessel
15	chr5:58461600-58467000	Genic enhancers	A549	lung
16	chr5:58464200-58484000	Weak transcription	Brain Anterior Caudate	brain
17	chr5:58464200-58485400	Weak transcription	Aorta	Aorta
18	chr5:58464400-58473000	Weak transcription	Right Ventricle	heart
19	chr5:58464600-58474400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:58464800-58478800	Weak transcription	Hela-S3	cervix
21	chr5:58465600-58470400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:58465800-58469400	Weak transcription	HSMM	muscle
23	chr5:58466000-58472800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr5:58466000-58473600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:58466200-58473600	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr5:58466200-58474400	Weak transcription	Colon Smooth Muscle	Colon
27	chr5:58466200-58479400	Weak transcription	Psoas Muscle	Psoas
28	chr5:58467000-58467200	Enhancers	Esophagus	oesophagus
29	chr5:58467000-58467400	Transcr. at gene 5' and 3'	A549	lung
30	chr5:58467200-58474800	Weak transcription	Esophagus	oesophagus
31	chr5:58467400-58467600	Genic enhancers	A549	lung
32	chr5:58467600-58468800	Weak transcription	A549	lung
33	chr5:58468800-58469600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr5:58468800-58469800	Enhancers	A549	lung
35	chr5:58468800-58470000	Enhancers	Fetal Lung	lung
36	chr5:58469000-58483800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:58469200-58484400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr5:58469400-58469800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr5:58469400-58470000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr5:58469400-58470000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:58469400-58470400	Enhancers	Primary T cells from cord blood	blood

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