Variant report

Variant	esv20304
Chromosome Location	chr17:17525592-17533785
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	chr17:17398308..17400093-chr17:17528024..17530338,2	K562	blood:
2	chr17:17494324..17496694-chr17:17529584..17532254,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000133027	chromatin interactions
ENSG00000108551	chromatin interactions
ENSG00000264666	chromatin interactions

Extended variants
information (count: 383 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:383 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185703678	chr17:17525596-17525597	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs530949827	chr17:17525598-17525599	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs148907427	chr17:17525629-17525630	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529320253	chr17:17525660-17525661	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs549688604	chr17:17525688-17525689	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs569616247	chr17:17525702-17525703	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs145211167	chr17:17525703-17525704	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs538395461	chr17:17525726-17525727	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs553852488	chr17:17525750-17525751	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs558392642	chr17:17525754-17525755	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs571287209	chr17:17525756-17525757	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs552246631	chr17:17525797-17525798	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533673558	chr17:17525812-17525813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137885398	chr17:17525822-17525823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs573543722	chr17:17525857-17525858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542257025	chr17:17525858-17525859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570469105	chr17:17525897-17525898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs190672509	chr17:17525901-17525902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73288127	chr17:17525902-17525903	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs112464212	chr17:17525942-17525943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs527507400	chr17:17525943-17525944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs540354179	chr17:17525956-17525957	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560675731	chr17:17525960-17525961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529267330	chr17:17525974-17525975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549401953	chr17:17525981-17525982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs539391400	chr17:17525996-17525997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375636886	chr17:17526023-17526024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs181444492	chr17:17526028-17526029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs7222759	chr17:17526049-17526050	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs184613921	chr17:17526051-17526052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs35358157	chr17:17526203-17526204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs141512012	chr17:17526268-17526269	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375702911	chr17:17526279-17526280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534439948	chr17:17526292-17526293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150881684	chr17:17526351-17526352	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567403510	chr17:17526384-17526385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs138310690	chr17:17526480-17526481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs535801498	chr17:17526483-17526484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs555752253	chr17:17526551-17526552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs575900606	chr17:17526552-17526553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs373241894	chr17:17526645-17526646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117707025	chr17:17526661-17526662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112523749	chr17:17526699-17526700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs112758408	chr17:17526700-17526701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374328232	chr17:17526753-17526754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs541266795	chr17:17526763-17526764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs560336103	chr17:17526782-17526783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574191099	chr17:17526798-17526799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs543008925	chr17:17526801-17526802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs562892160	chr17:17526807-17526808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16608533	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Chordoma	21602918	CNVD
Miller-Dieker syndrome	22283845	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Cancer	22429812	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Ewing''s sarcoma	21437220	CNVD
Follicular lymphoma	19010834	CNVD
Colorectal cancer	20709793	CNVD
Acute myeloid leukemia	16864856	CNVD
Endometrial cancer	22040021	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Breast cancer	22028636	CNVD
Breast cancer	20837533	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
colon cancer	17210682	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	19359472	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Chronic lymphocytic leukemia	17971485	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16461572	CNVD
Colorectal cancer	16272173	CNVD
Follicular lymphoma	17170743	CNVD
Human rectal carcinomas	16397240	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Moyamoya disease	22323933	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelodysplastic syndrome	21251322	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute myeloid leukemia	20724749	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Acute myeloid leukemia	17237825	CNVD
Colorectal cancer	21645411	CNVD
HIV/AIDS	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
HIV/AIDS	17953491	CNVD
HIV/AIDS	20877625	CNVD
Immune disease	21076436	CNVD
Rheumatoid arthritis	17953491	CNVD
Type 1 diabetes	17953491	CNVD
HIV/AIDS	15637236	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Neurofibromatosis	18196300	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Breast cancer	17603634	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
ovarian endometriomas	16273235	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	CNVD
Smith-Magenis syndrome	18923513	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Austim spectrum disorder	21302340	CNVD
Autism	22492990	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Epilepsy	20970697	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Smith-Magenis syndrome	21981782	CNVD
Smith-Magenis syndrome	20188345	CNVD
Smith-Magenis syndrome	16775514	CNVD
Smith-Magenis syndrome	22585170	CNVD
Smith-Magenis syndrome	22241247	CNVD
Autism	20970697	CNVD
Mental retardation	19951919	CNVD
Potocki-Lupski syndrome	21271655	CNVD
Potocki-lupski syndrome	17357070	CNVD
Potocki-lupski syndrome	20110824	CNVD
Potocki-lupski syndrome	18923514	CNVD
Potocki-lupski syndrome	22241247	CNVD
Potocki-lupski syndrome	20188345	CNVD
Schizophrenia	21399695	CNVD
Mental retardation	16773131	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Charcot-marie-tooth disease	22470819	CNVD
Neurofibromatosis	22470819	CNVD
Neuropathy	22470819	CNVD
Smith-Magenis syndrome	18301319	CNVD
Smith-Magenis syndrome	17357070	CNVD
Smith-Magenis syndrome	18469339	CNVD
Smith-Magenis syndrome	22241097	CNVD
Smith-Magenis syndrome	22470819	CNVD
Tourette syndrome	18923514	CNVD
Type 1 diabetes	22470819	CNVD
Potocki-lupski syndrome	18469339	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Neuropathy	17597781	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	17015230	CNVD
Smith-Magenis syndrome	17597781	CNVD
Potocki-lupski syndrome	18059269	CNVD
Potocki-lupski syndrome	17597781	CNVD
Mental retardation	17847001	CNVD
Multiple myeloma	16616336	CNVD
Breast cancer	20409316	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22543975	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	19492091	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17517200-17529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:17524400-17525800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr17:17524600-17525800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr17:17524800-17525600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr17:17524800-17526200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:17525000-17525800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr17:17525200-17525600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:17525200-17525800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr17:17525200-17525800	Enhancers	Fetal Thymus	thymus
10	chr17:17525200-17527200	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr17:17525400-17525600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr17:17525400-17525600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr17:17525400-17527000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr17:17525400-17527000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr17:17525400-17527200	Weak transcription	Spleen	Spleen
16	chr17:17525400-17531800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17525600-17525800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:17525600-17527000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:17525600-17527000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr17:17525600-17529400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr17:17525800-17526400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr17:17525800-17526600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr17:17525800-17526800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr17:17525800-17527000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr17:17526400-17527800	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr17:17526600-17532000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr17:17526800-17527400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr17:17527000-17527200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:17527000-17527200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr17:17527000-17527200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr17:17527000-17527200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr17:17527000-17527200	Enhancers	Fetal Muscle Trunk	muscle
33	chr17:17527000-17527400	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr17:17527000-17527400	Enhancers	H1 Cell Line	embryonic stem cell
35	chr17:17527000-17527400	Enhancers	Fetal Stomach	stomach
36	chr17:17527000-17527600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:17527000-17527600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr17:17527000-17527600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:17527000-17528200	Enhancers	HepG2	liver
40	chr17:17527000-17528400	Enhancers	Placenta	Placenta
41	chr17:17527000-17529400	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr17:17527200-17527400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr17:17527200-17527400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr17:17527200-17527400	Enhancers	Spleen	Spleen
45	chr17:17527200-17528000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr17:17527200-17528400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:17527200-17528600	Enhancers	Ovary	ovary
48	chr17:17527200-17528600	Enhancers	Pancreas	Pancrea
49	chr17:17527200-17529400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr17:17527400-17528200	Weak transcription	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links