Variant report

Variant	esv3423710
Chromosome Location	chr17:15792252-15795100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant related genes	Relation type
ENSG00000214941	chromatin interactions
ENSG00000011295	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113289969	chr17:15792284-15792285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541696967	chr17:15792333-15792334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs376025051	chr17:15792393-15792394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527449409	chr17:15792433-15792434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540811520	chr17:15792518-15792519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367805712	chr17:15792525-15792526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189965442	chr17:15792554-15792555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs36073689	chr17:15792641-15792642	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs144618179	chr17:15792678-15792679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35856354	chr17:15792728-15792729	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs532012219	chr17:15792756-15792757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552810515	chr17:15792809-15792810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566395192	chr17:15792819-15792820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs180730169	chr17:15792821-15792822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548780161	chr17:15792855-15792856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568718170	chr17:15792922-15792923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369829002	chr17:15792925-15792926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537543563	chr17:15792929-15792930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186164225	chr17:15792983-15792984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs557184222	chr17:15793006-15793007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577122773	chr17:15793068-15793069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs539464351	chr17:15793069-15793070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552984075	chr17:15793081-15793082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570685766	chr17:15793098-15793099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560130996	chr17:15793212-15793213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542229515	chr17:15793213-15793214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs562736643	chr17:15793215-15793216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs138518577	chr17:15793321-15793322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190697264	chr17:15793339-15793340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574299610	chr17:15793348-15793349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183268026	chr17:15793352-15793353	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563258016	chr17:15793353-15793354	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs186423643	chr17:15793357-15793358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190486996	chr17:15793369-15793370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559421676	chr17:15793374-15793375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183774905	chr17:15793377-15793378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs12935927	chr17:15793443-15793444	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs568630069	chr17:15793447-15793448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56109469	chr17:15793475-15793476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141894844	chr17:15793529-15793530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs144606380	chr17:15793533-15793534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34759447	chr17:15793629-15793630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs570841665	chr17:15793703-15793704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs539949964	chr17:15793773-15793774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs552945270	chr17:15793774-15793775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs373030451	chr17:15793775-15793776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58361385	chr17:15793813-15793814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs187913340	chr17:15793814-15793815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs192946734	chr17:15793849-15793850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs182458401	chr17:15793864-15793865	Weak transcription Enhancers	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	chr17:15792600-15793800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:15792800-15793400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:15792800-15794200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr17:15794000-15794200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:15794000-15794200	Enhancers	Esophagus	oesophagus
22	chr17:15794000-15794200	Enhancers	Pancreas	Pancrea
23	chr17:15794000-15794200	Enhancers	NHDF-Ad	bronchial
24	chr17:15794000-15794400	Enhancers	Placenta	Placenta
25	chr17:15794000-15794600	Enhancers	Fetal Muscle Trunk	muscle
26	chr17:15794000-15795200	Enhancers	Fetal Muscle Leg	muscle
27	chr17:15794200-15795000	Weak transcription	Pancreas	Pancrea
28	chr17:15794400-15796000	Weak transcription	Placenta	Placenta
29	chr17:15795000-15798200	Enhancers	Pancreas	Pancrea

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