Variant report

Variant	esv3347393
Chromosome Location	chr5:60729095-60731093
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565287195	chr5:60729159-60729160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532657206	chr5:60729166-60729167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573281747	chr5:60729189-60729190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572620505	chr5:60729198-60729199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376090669	chr5:60729243-60729244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116157206	chr5:60729260-60729261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561223861	chr5:60729262-60729263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540584394	chr5:60729263-60729264	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548695220	chr5:60729302-60729303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376159508	chr5:60729303-60729304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74579946	chr5:60729317-60729318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs530116586	chr5:60729392-60729393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543977243	chr5:60729418-60729419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563757909	chr5:60729440-60729441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563046073	chr5:60729460-60729461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551259746	chr5:60729461-60729462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113684766	chr5:60729485-60729486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571533377	chr5:60729490-60729491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs369137760	chr5:60729524-60729525	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546992716	chr5:60729556-60729557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs372673543	chr5:60729579-60729580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566970175	chr5:60729591-60729592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530296758	chr5:60729622-60729623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555871108	chr5:60729635-60729636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569388788	chr5:60729646-60729647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183555293	chr5:60729682-60729683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188279870	chr5:60729695-60729696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201228708	chr5:60729704-60729705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6449534	chr5:60729841-60729842	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs10615806	chr5:60729888-60729889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535056933	chr5:60729990-60729991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555295737	chr5:60729993-60729994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372772701	chr5:60730011-60730012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574922238	chr5:60730058-60730059	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190229041	chr5:60730061-60730062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550865077	chr5:60730121-60730122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563795604	chr5:60730227-60730228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577233732	chr5:60730246-60730247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs113398618	chr5:60730267-60730268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs147293305	chr5:60730273-60730274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140840938	chr5:60730324-60730325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs113117908	chr5:60730327-60730328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs144687559	chr5:60730328-60730329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547327868	chr5:60730369-60730370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs115254586	chr5:60730388-60730389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs529665462	chr5:60730441-60730442	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79735499	chr5:60730478-60730479	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs549336569	chr5:60730485-60730486	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569745282	chr5:60730554-60730555	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538310885	chr5:60730569-60730570	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
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
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60713400-60732800	Weak transcription	Small Intestine	intestine
3	chr5:60719200-60729400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
5	chr5:60720000-60733800	Weak transcription	NHLF	lung
6	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr5:60720400-60734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
10	chr5:60721000-60733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:60725600-60732600	Weak transcription	Fetal Heart	heart
12	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:60725800-60732800	Weak transcription	Esophagus	oesophagus
14	chr5:60725800-60732800	Weak transcription	Pancreas	Pancrea
15	chr5:60726000-60729200	Weak transcription	Gastric	stomach
16	chr5:60726000-60730800	Weak transcription	Fetal Brain Female	brain
17	chr5:60726000-60732800	Weak transcription	Left Ventricle	heart
18	chr5:60726000-60732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr5:60726000-60733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
21	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
22	chr5:60727000-60732000	Weak transcription	Liver	Liver
23	chr5:60727800-60729400	Enhancers	HUVEC	blood vessel
24	chr5:60728400-60732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:60728400-60732600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:60728400-60732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr5:60728400-60733400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr5:60728400-60733600	Weak transcription	Fetal Brain Male	brain
29	chr5:60728400-60734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:60728400-60734000	Weak transcription	HSMM	muscle
31	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr5:60728400-60745400	Weak transcription	Ovary	ovary
33	chr5:60728600-60729400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr5:60728600-60729600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr5:60728600-60730200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:60728600-60730400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr5:60728600-60730400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:60728600-60730600	Weak transcription	A549	lung
39	chr5:60728600-60731200	Weak transcription	Fetal Kidney	kidney
40	chr5:60728600-60732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:60728600-60732800	Weak transcription	HMEC	breast
42	chr5:60728600-60732800	Weak transcription	NHEK	skin
43	chr5:60728600-60734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:60728600-60734000	Weak transcription	Brain Germinal Matrix	brain
45	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
46	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
47	chr5:60728800-60729400	Enhancers	Brain Substantia Nigra	brain
48	chr5:60728800-60729600	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:60728800-60732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:60728800-60733800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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