Variant report

Variant	nsv962386
Chromosome Location	chr17:20715376-20717900
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	CTCF	chr17:20716089-20716141	Lung_OC	lung:	n/a	n/a
2	MYC	chr17:20717898-20717944	MCF-7	breast:	n/a	n/a
3	POLR2A	chr17:20717850-20717945	MCF-7	breast:	n/a	n/a
4	POLR2A	chr17:20715328-20718653	K562	blood:	n/a	n/a

Variant related genes	Relation type
ABHD17AP6	TF binding region

Extended variants
information (count: 96 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2958458	chr17:20715378-20715379	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs28454341	chr17:20715390-20715391	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs536916521	chr17:20715424-20715425	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs35425805	chr17:20715444-20715445	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs184821922	chr17:20715536-20715537	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs9895480	chr17:20715574-20715575	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs557127063	chr17:20715587-20715588	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs189407430	chr17:20715593-20715594	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs146357765	chr17:20715604-20715605	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576192529	chr17:20715645-20715646	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs544911638	chr17:20715673-20715674	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs557098983	chr17:20715725-20715726	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs7214373	chr17:20715726-20715727	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs560947565	chr17:20715821-20715822	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs561901134	chr17:20715836-20715837	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs141504154	chr17:20715891-20715892	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs527621350	chr17:20715915-20715916	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565269745	chr17:20715918-20715919	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs532614881	chr17:20715978-20715979	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs375098932	chr17:20715986-20715987	Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563037781	chr17:20716097-20716098	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs181729238	chr17:20716111-20716112	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs9902243	chr17:20716177-20716178	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142004921	chr17:20716182-20716183	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs186999662	chr17:20716225-20716226	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs576403058	chr17:20716233-20716234	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs546563385	chr17:20716291-20716292	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs9902478	chr17:20716292-20716293	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538702039	chr17:20716336-20716337	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs556884308	chr17:20716370-20716371	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs537493501	chr17:20716383-20716384	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs199903645	chr17:20716401-20716402	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs536032745	chr17:20716422-20716423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs150627355	chr17:20716425-20716426	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs139668095	chr17:20716426-20716427	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs540296597	chr17:20716454-20716455	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs147475203	chr17:20716463-20716464	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs140529989	chr17:20716472-20716473	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs111698803	chr17:20716473-20716474	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs189944512	chr17:20716479-20716480	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs144443616	chr17:20716557-20716558	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs145559002	chr17:20716566-20716567	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs560804372	chr17:20716567-20716568	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs527967552	chr17:20716576-20716577	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs148914694	chr17:20716577-20716578	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs142643572	chr17:20716579-20716580	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs538355972	chr17:20716590-20716591	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs550305068	chr17:20716593-20716594	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568599914	chr17:20716634-20716635	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs115311603	chr17:20716649-20716650	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	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:5 , 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	chr17:20715200-20715600	Active TSS	Osteobl	bone
3	chr17:20715200-20715800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:20715200-20716000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr17:20715400-20715800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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