Variant report

Variant	esv3524590
Chromosome Location	chr17:15791027-15794925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15782611..15786264-chr17:15794710..15797679,3	MCF-7	breast:
2	chr17:15791535..15794057-chr17:15795691..15797755,2	MCF-7	breast:
3	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:
4	chr17:15788370..15791029-chr17:15792412..15794241,3	MCF-7	breast:
5	chr17:15791472..15794195-chr17:15796023..15798848,3	K562	blood:
6	chr17:15794765..15797289-chr17:15822819..15824762,2	MCF-7	breast:
7	chr17:15794544..15796258-chr17:15901823..15903663,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	chromatin interactions
ENSG00000214941	chromatin interactions

Extended variants
information (count: 139 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:139 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543409360	chr17:15791045-15791046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs199799616	chr17:15791088-15791089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs538990043	chr17:15791089-15791090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188447580	chr17:15791108-15791109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192231602	chr17:15791115-15791116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs368196778	chr17:15791133-15791134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541321243	chr17:15791138-15791139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572591132	chr17:15791154-15791155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541493978	chr17:15791189-15791190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555106137	chr17:15791190-15791191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574860912	chr17:15791196-15791197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564838853	chr17:15791197-15791198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543855293	chr17:15791217-15791218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs150326636	chr17:15791219-15791220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536790282	chr17:15791220-15791221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137963744	chr17:15791243-15791244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs56899388	chr17:15791284-15791285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563755410	chr17:15791321-15791322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74572004	chr17:15791392-15791393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184620533	chr17:15791415-15791416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190254582	chr17:15791418-15791419	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs547060857	chr17:15791474-15791475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs567036791	chr17:15791481-15791482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529771761	chr17:15791512-15791513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371742515	chr17:15791553-15791554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs549727915	chr17:15791559-15791560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs569595377	chr17:15791586-15791587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs192586488	chr17:15791607-15791608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558993615	chr17:15791664-15791665	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184360167	chr17:15791673-15791674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189120644	chr17:15791779-15791780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs555069073	chr17:15791833-15791834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548342086	chr17:15791863-15791864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543582421	chr17:15791901-15791902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557322944	chr17:15791908-15791909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9908121	chr17:15791994-15791995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs35655253	chr17:15792048-15792049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181740403	chr17:15792070-15792071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs35145048	chr17:15792073-15792074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs60320349	chr17:15792162-15792163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs67076110	chr17:15792164-15792165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397957335	chr17:15792165-15792166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2034104	chr17:15792166-15792167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34361852	chr17:15792190-15792191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs397965580	chr17:15792193-15792194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186342428	chr17:15792216-15792217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565037505	chr17:15792225-15792226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568041044	chr17:15792246-15792247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113289969	chr17:15792284-15792285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541696967	chr17:15792333-15792334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

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
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
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	22102821	CNVD
Gastric cancer	18160780	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15782600-15799000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr17:15787600-15794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr17:15787600-15795800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr17:15787600-15796200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr17:15789400-15796000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:15789600-15796200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr17:15790600-15794000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr17:15790600-15794000	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:15790600-15795400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr17:15790600-15796000	Weak transcription	K562	blood
11	chr17:15790600-15797600	Weak transcription	Lung	lung
12	chr17:15790600-15800000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr17:15790800-15800800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr17:15791000-15792800	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr17:15791000-15792800	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr17:15791000-15796200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr17:15791400-15791800	Enhancers	Fetal Brain Female	brain
18	chr17:15792600-15793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:15792800-15793400	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:15792800-15794200	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr17:15794000-15794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:15794000-15794200	Enhancers	Esophagus	oesophagus
23	chr17:15794000-15794200	Enhancers	Pancreas	Pancrea
24	chr17:15794000-15794200	Enhancers	NHDF-Ad	bronchial
25	chr17:15794000-15794400	Enhancers	Placenta	Placenta
26	chr17:15794000-15794600	Enhancers	Fetal Muscle Trunk	muscle
27	chr17:15794000-15795200	Enhancers	Fetal Muscle Leg	muscle
28	chr17:15794200-15795000	Weak transcription	Pancreas	Pancrea
29	chr17:15794400-15796000	Weak transcription	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links