Variant report

Variant	esv3356359
Chromosome Location	chr5:17310802-17313300
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17301641..17309650-chr5:17311056..17318411,15	MCF-7	breast:
2	chr5:17252273..17254109-chr5:17310774..17312487,2	MCF-7	breast:
3	chr5:17306196..17307863-chr5:17311072..17312636,3	MCF-7	breast:
4	chr5:17305215..17308288-chr5:17308696..17312196,4	K562	blood:
5	chr5:17301754..17303834-chr5:17308080..17310804,2	MCF-7	breast:
6	chr5:17220654..17223998-chr5:17311743..17315157,3	MCF-7	breast:
7	chr5:17312476..17313318-chr5:17326478..17327023,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185296	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530744217	chr5:17310806-17310807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs550557385	chr5:17310813-17310814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs561259904	chr5:17310862-17310863	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs369572130	chr5:17310882-17310883	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs113970259	chr5:17310897-17310898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572432592	chr5:17310899-17310900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566897792	chr5:17310941-17310942	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs59644952	chr5:17310957-17310958	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs552744265	chr5:17310962-17310963	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542928264	chr5:17310975-17310976	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150169124	chr5:17311021-17311022	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs298517	chr5:17311022-17311023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576194313	chr5:17311062-17311063	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575062181	chr5:17311079-17311080	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs534253997	chr5:17311101-17311102	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs298518	chr5:17311175-17311176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs572545494	chr5:17311195-17311196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs564717001	chr5:17311246-17311247	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs563691750	chr5:17311258-17311259	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs544665894	chr5:17311274-17311275	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193261714	chr5:17311283-17311284	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs530820118	chr5:17311290-17311291	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs370659839	chr5:17311293-17311294	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs544413599	chr5:17311308-17311309	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs543063304	chr5:17311314-17311315	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116519679	chr5:17311330-17311331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112989802	chr5:17311335-17311336	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs540576849	chr5:17311349-17311350	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs140399055	chr5:17311425-17311426	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs532559931	chr5:17311460-17311461	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs552656116	chr5:17311478-17311479	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs145482390	chr5:17311480-17311481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs531748564	chr5:17311489-17311490	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs548742108	chr5:17311496-17311497	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs183201017	chr5:17311498-17311499	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs112127591	chr5:17311501-17311502	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs298519	chr5:17311506-17311507	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs566088063	chr5:17311507-17311508	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370283060	chr5:17311515-17311516	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373977682	chr5:17311525-17311526	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs143937786	chr5:17311528-17311529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs148195205	chr5:17311537-17311538	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs186819061	chr5:17311588-17311589	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs191195279	chr5:17311608-17311609	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs554744367	chr5:17311617-17311618	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs574584000	chr5:17311620-17311621	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs540492692	chr5:17311626-17311627	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs560466283	chr5:17311640-17311641	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375877833	chr5:17311688-17311689	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532519884	chr5:17311698-17311699	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17306200-17315200	Weak transcription	NHLF	lung
2	chr5:17306800-17311400	Enhancers	A549	lung
3	chr5:17306800-17315000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:17307000-17312400	Weak transcription	Stomach Mucosa	stomach
5	chr5:17307000-17314800	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr5:17307000-17315400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr5:17307000-17316000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:17307000-17317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:17307000-17320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:17307400-17316000	Weak transcription	Placenta	Placenta
11	chr5:17309800-17314800	Weak transcription	Hela-S3	cervix
12	chr5:17310400-17316000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:17310600-17311000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:17311000-17316200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:17311200-17311400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr5:17311400-17312400	Weak transcription	A549	lung
17	chr5:17311400-17314800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:17312200-17312400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr5:17312200-17312800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:17312400-17313200	Flanking Active TSS	A549	lung
21	chr5:17312400-17313800	Enhancers	Stomach Mucosa	stomach
22	chr5:17312600-17312800	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr5:17312600-17313000	Enhancers	Fetal Lung	lung
24	chr5:17312600-17314600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:17312800-17313800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:17313000-17314800	Weak transcription	Fetal Lung	lung
27	chr5:17313000-17316200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr5:17313200-17314200	Enhancers	A549	lung

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