Variant report

Variant	nsv457680
Chromosome Location	chr17:15028005-15058236
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:15050928..15053562-chr17:15069827..15072655,2	K562	blood:
2	chr17:14829340..14831544-chr17:15056657..15059444,2	MCF-7	breast:
3	chr17:15027154..15029774-chr17:15031870..15033631,2	MCF-7	breast:
4	chr17:15030801..15032445-chr17:15040357..15042858,2	K562	blood:
5	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:
6	chr17:15027154..15029774-chr17:15031870..15033631,2	MCF-7	breast:
7	chr17:15034854..15037130-chr17:15046281..15047944,2	K562	blood:
8	chr17:15030801..15032445-chr17:15040357..15042858,2	K562	blood:

No data

Extended variants
information (count: 429 )
Associated
traits (count: 133 )

Variant overlapped rSNPs/rCNVs (count:429 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4792574	chr17:15028005-15028006	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544517771	chr17:15028066-15028067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs559265367	chr17:15028108-15028109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564376043	chr17:15028126-15028127	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532916471	chr17:15028203-15028204	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114066707	chr17:15028223-15028224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs559964526	chr17:15028296-15028297	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs983292	chr17:15028303-15028304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs548845169	chr17:15028310-15028311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569104260	chr17:15028311-15028312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538051747	chr17:15028326-15028327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73980991	chr17:15028355-15028356	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182536712	chr17:15028358-15028359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs12602512	chr17:15028393-15028394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs377447756	chr17:15028404-15028405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541839542	chr17:15028406-15028407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs983293	chr17:15028432-15028433	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs2875084	chr17:15028537-15028538	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs113932414	chr17:15028540-15028541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147950285	chr17:15028570-15028571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552455857	chr17:15028614-15028615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs186866202	chr17:15028617-15028618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556430681	chr17:15028618-15028619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575465765	chr17:15028619-15028620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143005811	chr17:15028648-15028649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs207476315	chr17:15028684-15028685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192936165	chr17:15028698-15028699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558049818	chr17:15028702-15028703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183575938	chr17:15028734-15028735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369123597	chr17:15028746-15028747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs111594232	chr17:15028775-15028776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs150636051	chr17:15028809-15028810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs188908582	chr17:15028817-15028818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535119663	chr17:15028818-15028819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201613690	chr17:15028824-15028825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559106125	chr17:15028839-15028840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574434187	chr17:15028851-15028852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531753418	chr17:15028858-15028859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs541552470	chr17:15028866-15028867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563445363	chr17:15028899-15028900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs193244184	chr17:15028900-15028901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs531768407	chr17:15028902-15028903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369632414	chr17:15028914-15028915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368051237	chr17:15028915-15028916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571532654	chr17:15028935-15028936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7209181	chr17:15028945-15028946	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs547818842	chr17:15028958-15028959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567650989	chr17:15028959-15028960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536255855	chr17:15028960-15028961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183961741	chr17:15028961-15028962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:133)

Disease	PMID	Source
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	19435819	CNVD
Non-small cell lung cancer	19010865	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Hepatocellular carcinoma	18803288	CNVD
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
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
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
Multiple myeloma	16616336	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	21811587	CNVD
Autism	17322880	CNVD
Hereditary neuropathy with liability to pressure palsy	19521722	CNVD
Schizophrenia	19571808	CNVD
Schizophrenia	19955444	CNVD
Charcot-marie-tooth disease	18787571	CNVD
Breast cancer	20409316	CNVD
Autism	18414403	CNVD
Breast cancer	17001317	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Peripheral neuropathy	21193943	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	22958593	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Ovarian cancer	20844748	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Charcot-marie-tooth disease	16463004	CNVD
Osteosarcoma	22292074	CNVD
Charcot	16760730	CNVD
Mental retardation	17901693	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21858162	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	20967226	CNVD
Autism	18522746	CNVD
Epilepsy	21635232	CNVD
Autism	22543975	CNVD
Obesity	20622171	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
early-passage human iPS cells	21368824	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15023200-15028600	Enhancers	NHDF-Ad	bronchial
2	chr17:15023400-15028600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:15026400-15028200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:15026400-15028200	Enhancers	Osteobl	bone
5	chr17:15027000-15028200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:15027200-15028600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr17:15027600-15028200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:15028600-15029200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr17:15029200-15029400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:15033200-15034400	Enhancers	Rectal Smooth Muscle	rectum
11	chr17:15033400-15036000	Enhancers	Colon Smooth Muscle	Colon
12	chr17:15034800-15035400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr17:15035200-15035400	Enhancers	K562	blood
14	chr17:15035400-15036400	Weak transcription	K562	blood
15	chr17:15036400-15039000	Enhancers	K562	blood
16	chr17:15039000-15039600	Weak transcription	K562	blood
17	chr17:15039600-15039800	Enhancers	K562	blood
18	chr17:15048600-15049200	Enhancers	Fetal Stomach	stomach
19	chr17:15050200-15050800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:15057600-15059000	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr17:15058000-15058800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr17:15058000-15060800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:15058000-15061200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr17:15058200-15058600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:15058200-15058800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:15058200-15058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr17:15058200-15059200	Enhancers	Osteobl	bone
28	chr17:15058200-15059600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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