Variant report

Variant	esv20919
Chromosome Location	chr5:14995242-15000583
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	chr5:14998977..15001072-chr5:15002735..15004861,2	MCF-7	breast:
2	chr5:14972075..14974642-chr5:14995746..14998492,2	MCF-7	breast:

Extended variants
information (count: 205 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140108486	chr5:14995254-14995255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570362596	chr5:14995311-14995312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143788893	chr5:14995362-14995363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185959613	chr5:14995389-14995390	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs3006071	chr5:14995390-14995391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs147096993	chr5:14995396-14995397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567413087	chr5:14995438-14995439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534368829	chr5:14995448-14995449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs552696111	chr5:14995449-14995450	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs377396998	chr5:14995517-14995518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112086524	chr5:14995521-14995522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545021717	chr5:14995583-14995584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181847704	chr5:14995584-14995585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529319373	chr5:14995669-14995670	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs77505448	chr5:14995671-14995672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542961871	chr5:14995721-14995722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561028210	chr5:14995724-14995725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs369916989	chr5:14995735-14995736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs528300697	chr5:14995744-14995745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs148528787	chr5:14995760-14995761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs62356077	chr5:14995764-14995765	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs142889466	chr5:14995781-14995782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151027978	chr5:14995797-14995798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551780907	chr5:14995806-14995807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569973763	chr5:14995808-14995809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563331325	chr5:14995824-14995825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs186584198	chr5:14995825-14995826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs142354607	chr5:14995841-14995842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs566185263	chr5:14995876-14995877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192336127	chr5:14995920-14995921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530662392	chr5:14995947-14995948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534925440	chr5:14995976-14995977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182363463	chr5:14996016-14996017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542711608	chr5:14996037-14996038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs577692715	chr5:14996083-14996084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs145273069	chr5:14996098-14996099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs556884992	chr5:14996101-14996102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79409358	chr5:14996122-14996123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs542898538	chr5:14996140-14996141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs532942763	chr5:14996178-14996179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs111413077	chr5:14996329-14996330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369619622	chr5:14996389-14996390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372988320	chr5:14996401-14996402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147644438	chr5:14996497-14996498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559571454	chr5:14996499-14996500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142312888	chr5:14996509-14996510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545180285	chr5:14996537-14996538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187957121	chr5:14996599-14996600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530859332	chr5:14996622-14996623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549255116	chr5:14996634-14996635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	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
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14993600-14996600	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:14993600-14996800	Weak transcription	GM12878-XiMat	blood
3	chr5:14993600-14997600	Weak transcription	Adipose Nuclei	Adipose
4	chr5:14993800-14999400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr5:14994000-14996600	Weak transcription	Primary B cells from cord blood	blood
6	chr5:14994000-14996600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr5:14994000-14996600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:14994600-15008600	Weak transcription	Placenta	Placenta
9	chr5:14995200-14995600	Enhancers	Duodenum Mucosa	Duodenum
10	chr5:14995200-14996000	Enhancers	Fetal Intestine Small	intestine
11	chr5:14995200-14996200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr5:14995400-14995800	Enhancers	Fetal Intestine Large	intestine
13	chr5:14995400-14995800	Enhancers	HepG2	liver
14	chr5:14996200-14998000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr5:14996600-14998200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr5:14996600-15000200	Enhancers	Primary B cells from cord blood	blood
17	chr5:14996600-15000200	Enhancers	Primary B cells from peripheral blood	blood
18	chr5:14996600-15000600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:14996800-14997400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr5:14996800-14997600	Enhancers	GM12878-XiMat	blood
21	chr5:14997400-15000000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr5:14997600-14998400	Enhancers	Adipose Nuclei	Adipose
23	chr5:14997600-14998800	ZNF genes & repeats	GM12878-XiMat	blood
24	chr5:14998400-14998800	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
25	chr5:14998800-14999400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr5:14999400-15000000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:14999400-15000000	Bivalent Enhancer	HepG2	liver
28	chr5:14999400-15000200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:14999400-15000200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr5:14999400-15000200	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr5:14999600-14999800	Enhancers	Brain Cingulate Gyrus	brain
32	chr5:14999600-15000200	Enhancers	Fetal Intestine Small	intestine
33	chr5:14999800-15000200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr5:14999800-15002800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:15000000-15000200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr5:15000200-15001200	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr5:15000200-15001400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:15000200-15003800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:15000200-15007800	Weak transcription	Rectal Mucosa Donor 29	rectum

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