Variant report

Variant	nsv960077
Chromosome Location	chr17:20717900-20722720
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr17:20717910-20717914	MCF-7	breast:	n/a	n/a
2	MYC	chr17:20717898-20717944	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:20719838-20719887	K562	blood:	n/a	n/a
4	POLR2A	chr17:20715328-20718653	K562	blood:	n/a	n/a
5	POLR2A	chr17:20720154-20720527	K562	blood:	n/a	n/a
6	POLR2A	chr17:20721832-20725286	K562	blood:	n/a	n/a
7	POLR2A	chr17:20720844-20720964	ProgFib	skin:	n/a	n/a
8	POLR2A	chr17:20717850-20717945	MCF-7	breast:	n/a	n/a
9	POLR2A	chr17:20718924-20719546	K562	blood:	n/a	n/a
10	POLR2A	chr17:20720950-20721565	K562	blood:	n/a	n/a
11	STAT3	chr17:20719176-20719374	MCF10A-Er-Src	breast:	n/a	n/a
12	TEAD4	chr17:20719769-20720141	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ABHD17AP6	TF binding region

Extended variants
information (count: 186 )
Associated
traits (count: 150 )

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	rs140018565	chr17:20717919-20717920	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs73984825	chr17:20717959-20717960	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs145785110	chr17:20717977-20717978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570753944	chr17:20717992-20717993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538112680	chr17:20718017-20718018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs111904758	chr17:20718037-20718038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs556614014	chr17:20718049-20718050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568425744	chr17:20718075-20718076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535844303	chr17:20718094-20718095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188829236	chr17:20718128-20718129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114955043	chr17:20718139-20718140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs117726655	chr17:20718176-20718177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576343641	chr17:20718177-20718178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs192898753	chr17:20718306-20718307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562146151	chr17:20718340-20718341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574143564	chr17:20718363-20718364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577819162	chr17:20718375-20718376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs541416768	chr17:20718389-20718390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs368519730	chr17:20718436-20718437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527374671	chr17:20718457-20718458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183385880	chr17:20718511-20718512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78277372	chr17:20718554-20718555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552373152	chr17:20718606-20718607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs187919894	chr17:20718607-20718608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531650949	chr17:20718611-20718612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548245528	chr17:20718622-20718623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111285555	chr17:20718631-20718632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568350053	chr17:20718646-20718647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs183630524	chr17:20718661-20718662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370618486	chr17:20718662-20718663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145443913	chr17:20718746-20718747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566186689	chr17:20718749-20718750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539513242	chr17:20718829-20718830	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs568080637	chr17:20718943-20718944	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558340057	chr17:20719031-20719032	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374545981	chr17:20719034-20719035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572266428	chr17:20719037-20719038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs547518796	chr17:20719038-20719039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150772037	chr17:20719058-20719059	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186495996	chr17:20719059-20719060	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11268189	chr17:20719072-20719073	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2958479	chr17:20719100-20719101	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs370196525	chr17:20719105-20719106	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs573981041	chr17:20719109-20719110	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375280374	chr17:20719110-20719111	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2993353	chr17:20719173-20719174	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs572123273	chr17:20719174-20719175	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139123687	chr17:20719196-20719197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs192658195	chr17:20719234-20719235	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2993352	chr17:20719239-20719240	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:150)

Disease	PMID	Source
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20705400-20718000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20718000-20720800	Weak transcription	Spleen	Spleen
3	chr17:20718800-20719600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:20719600-20720000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:20719600-20720200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr17:20719600-20720600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr17:20719800-20720200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr17:20720200-20720800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr17:20720400-20724600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr17:20720600-20721400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:20720800-20721000	ZNF genes & repeats	Spleen	Spleen

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