Variant report

Variant	esv3424101
Chromosome Location	chr17:14948127-14952225
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	chr17:14951655..14954068-chr17:14956212..14958419,2	MCF-7	breast:
2	chr17:14951706..14954257-chr17:14957410..14960251,2	MCF-7	breast:

Extended variants
information (count: 186 )
Associated
traits (count: 130 )

Variant overlapped rSNPs/rCNVs (count:186 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539066015	chr17:14948179-14948180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558745776	chr17:14948210-14948211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs9915001	chr17:14948215-14948216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs192794440	chr17:14948224-14948225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs184887795	chr17:14948247-14948248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs573541003	chr17:14948261-14948262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs542508315	chr17:14948287-14948288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9915425	chr17:14948289-14948290	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs369379031	chr17:14948317-14948318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575617521	chr17:14948327-14948328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545006021	chr17:14948329-14948330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375240878	chr17:14948332-14948333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs72302603	chr17:14948333-14948334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398058613	chr17:14948347-14948348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532382357	chr17:14948348-14948349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539856795	chr17:14948349-14948350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564800987	chr17:14948364-14948365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373226627	chr17:14948484-14948485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1860317	chr17:14948485-14948486	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs3086163	chr17:14948512-14948513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397839444	chr17:14948516-14948517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs5819503	chr17:14948519-14948520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1860318	chr17:14948538-14948539	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs150039894	chr17:14948559-14948560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62061412	chr17:14948574-14948575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113005642	chr17:14948575-14948576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs563984604	chr17:14948578-14948579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114274331	chr17:14948694-14948695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189405673	chr17:14948725-14948726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565997315	chr17:14948774-14948775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs8076445	chr17:14948800-14948801	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs181586050	chr17:14948821-14948822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34106716	chr17:14948829-14948830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567100209	chr17:14948839-14948840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12453931	chr17:14948883-14948884	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs557623744	chr17:14948886-14948887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376621381	chr17:14948906-14948907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556005830	chr17:14948919-14948920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369716643	chr17:14948938-14948939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576044210	chr17:14948974-14948975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs575953596	chr17:14949016-14949017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201013852	chr17:14949091-14949092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs185755250	chr17:14949163-14949164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs531038318	chr17:14949165-14949166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189432094	chr17:14949178-14949179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181848364	chr17:14949297-14949298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs541119388	chr17:14949298-14949299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs117211584	chr17:14949300-14949301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186141911	chr17:14949323-14949324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567687854	chr17:14949333-14949334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:130)

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

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:14940200-14952800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:14943000-14950800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr17:14943000-14951400	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr17:14943200-14952600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr17:14944000-14951400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr17:14944000-14952400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr17:14944400-14951600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:14946000-14957800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:14946200-14951600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr17:14950800-14953800	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr17:14951400-14952600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr17:14951400-14953200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr17:14951400-14954000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr17:14951600-14952000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr17:14951600-14952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr17:14951600-14953400	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr17:14951600-14953600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr17:14951600-14953800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr17:14951600-14954200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr17:14952000-14952800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr17:14952000-14953000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr17:14952200-14952800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:14952200-14952800	Bivalent Enhancer	Fetal Lung	lung

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