Variant report

Variant	nsv823012
Chromosome Location	chr5:14589930-14591675
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	chr5:14591324..14593515-chr5:14599178..14601875,2	MCF-7	breast:
2	chr5:14589229..14592694-chr5:14592750..14596191,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145569	chromatin interactions

Extended variants
information (count: 72 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549332794	chr5:14589974-14589975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374080454	chr5:14589986-14589987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs564982435	chr5:14590000-14590001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535531508	chr5:14590002-14590003	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs557224288	chr5:14590029-14590030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553724176	chr5:14590061-14590062	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565851839	chr5:14590062-14590063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs539376480	chr5:14590092-14590093	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117337893	chr5:14590143-14590144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113041632	chr5:14590152-14590153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372216327	chr5:14590160-14590161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367931166	chr5:14590170-14590171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200419848	chr5:14590172-14590173	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183261083	chr5:14590226-14590227	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375172831	chr5:14590229-14590230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369461020	chr5:14590284-14590285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs139500706	chr5:14590320-14590321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs574884375	chr5:14590343-14590344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542302365	chr5:14590371-14590372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539392903	chr5:14590405-14590406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149696514	chr5:14590412-14590413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527866636	chr5:14590422-14590423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144420237	chr5:14590437-14590438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs564458016	chr5:14590463-14590464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531836593	chr5:14590508-14590509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532168509	chr5:14590563-14590564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs371461180	chr5:14590572-14590573	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549410007	chr5:14590615-14590616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188678271	chr5:14590642-14590643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs79139577	chr5:14590655-14590656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs547446656	chr5:14590666-14590667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34885036	chr5:14590688-14590689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139456064	chr5:14590751-14590752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191962223	chr5:14590776-14590777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184222349	chr5:14590836-14590837	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs187555736	chr5:14590945-14590946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145075520	chr5:14590964-14590965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142063489	chr5:14590973-14590974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191304069	chr5:14590990-14590991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7718540	chr5:14591004-14591005	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs539852082	chr5:14591019-14591020	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574761335	chr5:14591023-14591024	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535605368	chr5:14591025-14591026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs17571949	chr5:14591039-14591040	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs147742189	chr5:14591075-14591076	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545998363	chr5:14591083-14591084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564335871	chr5:14591107-14591108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576366250	chr5:14591127-14591128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142660246	chr5:14591140-14591141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561555578	chr5:14591158-14591159	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
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
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
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14583200-14594400	Weak transcription	Adipose Nuclei	Adipose
2	chr5:14583400-14591600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr5:14583400-14593600	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr5:14585000-14590200	Weak transcription	Primary T cells from cord blood	blood
5	chr5:14585000-14590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:14585200-14590800	Weak transcription	Hela-S3	cervix
7	chr5:14585400-14590600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr5:14585400-14593000	Weak transcription	Fetal Brain Female	brain
9	chr5:14585800-14590400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:14585800-14605000	Weak transcription	Fetal Intestine Small	intestine
11	chr5:14586000-14590600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr5:14586000-14602600	Weak transcription	Fetal Intestine Large	intestine
13	chr5:14587000-14593000	Enhancers	Sigmoid Colon	Sigmoid Colon
14	chr5:14587000-14594800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr5:14587400-14592600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:14587800-14590000	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr5:14587800-14594600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:14588000-14590000	Enhancers	Stomach Mucosa	stomach
19	chr5:14588000-14590000	Enhancers	GM12878-XiMat	blood
20	chr5:14588200-14592000	Enhancers	Pancreas	Pancrea
21	chr5:14588400-14590000	Enhancers	Duodenum Mucosa	Duodenum
22	chr5:14588600-14593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:14588800-14595000	Enhancers	Primary T cells fromperipheralblood	blood
24	chr5:14588800-14595200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr5:14589000-14590800	Enhancers	Monocytes-CD14+_RO01746	blood
26	chr5:14589000-14594600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:14589200-14590000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr5:14589200-14591600	Weak transcription	Colonic Mucosa	Colon
29	chr5:14589200-14593000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:14589400-14590400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr5:14589400-14590600	Weak transcription	Small Intestine	intestine
32	chr5:14589400-14593200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr5:14589400-14594400	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr5:14589600-14590600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr5:14589600-14590600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr5:14589600-14590600	Weak transcription	Spleen	Spleen
37	chr5:14589600-14591400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr5:14589600-14592800	Weak transcription	Placenta	Placenta
39	chr5:14589600-14596800	Weak transcription	Esophagus	oesophagus
40	chr5:14589800-14590000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr5:14589800-14590600	Weak transcription	Lung	lung
42	chr5:14589800-14590800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr5:14589800-14590800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr5:14590000-14590400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:14590000-14590400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr5:14590000-14590400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr5:14590000-14590400	Weak transcription	Stomach Mucosa	stomach
48	chr5:14590000-14590400	Weak transcription	GM12878-XiMat	blood
49	chr5:14590000-14593600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr5:14590200-14594400	Enhancers	Primary T cells from cord blood	blood

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