Variant report

Variant	esv16382
Chromosome Location	chr17:53545954-53553610
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	chr17:53541053..53543358-chr17:53551283..53553190,2	MCF-7	breast:

Extended variants
information (count: 316 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:316 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576665445	chr17:53545968-53545969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563918400	chr17:53546000-53546001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567785876	chr17:53546009-53546010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538467443	chr17:53546013-53546014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192232819	chr17:53546031-53546032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369011974	chr17:53546067-53546068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567842897	chr17:53546079-53546080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34224910	chr17:53546093-53546094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534733991	chr17:53546162-53546163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs117177457	chr17:53546174-53546175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs185078803	chr17:53546185-53546186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113966104	chr17:53546196-53546197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73318300	chr17:53546203-53546204	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs190817610	chr17:53546214-53546215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536814350	chr17:53546229-53546230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs555658975	chr17:53546231-53546232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs193079195	chr17:53546339-53546340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185517609	chr17:53546348-53546349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573899381	chr17:53546384-53546385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188288728	chr17:53546465-53546466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139924118	chr17:53546467-53546468	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373297351	chr17:53546470-53546471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369244837	chr17:53546492-53546493	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577672701	chr17:53546497-53546498	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555507764	chr17:53546509-53546510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373938727	chr17:53546567-53546568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563209831	chr17:53546575-53546576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs531162154	chr17:53546600-53546601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs549298374	chr17:53546605-53546606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs114469887	chr17:53546606-53546607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs573487887	chr17:53546607-53546608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs180752164	chr17:53546667-53546668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201984695	chr17:53546671-53546672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571315404	chr17:53546686-53546687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538611820	chr17:53546741-53546742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551073166	chr17:53546750-53546751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544045115	chr17:53546764-53546765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562243520	chr17:53546854-53546855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149936446	chr17:53546871-53546872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537285330	chr17:53546875-53546876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11651780	chr17:53546906-53546907	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs539819060	chr17:53546907-53546908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs144989199	chr17:53546921-53546922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs534917513	chr17:53546934-53546935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185844416	chr17:53546947-53546948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374309504	chr17:53546996-53546997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs34773903	chr17:53547018-53547019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544998904	chr17:53547076-53547077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557054182	chr17:53547078-53547079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs544948868	chr17:53547107-53547108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Chordoma	18071362	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myeloproliferative neoplasm	20015882	CNVD
craniofacial dysmorphism	21918468	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	19602461	CNVD
Sezary syndrome	18413736	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:53544400-53550000	Weak transcription	Placenta	Placenta
2	chr17:53544600-53551800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:53546400-53546600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr17:53546600-53549800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:53547800-53548200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:53549800-53550800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr17:53550000-53550800	Enhancers	Placenta	Placenta
8	chr17:53550400-53550800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:53550600-53551200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr17:53550800-53565000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr17:53551000-53551800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr17:53551800-53552000	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr17:53551800-53557400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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