Variant report

Variant	nsv960160
Chromosome Location	chr17:20236833-20239078
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	chr17:20236940-20237090	GM12864	blood:	n/a	n/a
2	FOXA1	chr17:20237823-20238157	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:20236887-20237182	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
RN7SL17P	TF binding region
CCDC144CP	TF binding region

Extended variants
information (count: 91 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367739480	chr17:20236846-20236847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549973775	chr17:20236864-20236865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs2543902	chr17:20236868-20236869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544693064	chr17:20236885-20236886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs2589732	chr17:20236896-20236897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568177411	chr17:20236897-20236898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547090761	chr17:20236951-20236952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs553785600	chr17:20236980-20236981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs2649214	chr17:20237027-20237028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539440138	chr17:20237136-20237137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs144169913	chr17:20237150-20237151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397839645	chr17:20237159-20237160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576108488	chr17:20237189-20237190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543533941	chr17:20237193-20237194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187987131	chr17:20237231-20237232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574152776	chr17:20237243-20237244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs147348806	chr17:20237256-20237257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78350404	chr17:20237261-20237262	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
19	rs2586608	chr17:20237290-20237291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532336456	chr17:20237303-20237304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571109311	chr17:20237326-20237327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552178992	chr17:20237341-20237342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141022623	chr17:20237349-20237350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531400383	chr17:20237451-20237452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549910760	chr17:20237457-20237458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568202100	chr17:20237465-20237466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535289031	chr17:20237488-20237489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547611663	chr17:20237501-20237502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs113174313	chr17:20237527-20237528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565822587	chr17:20237578-20237579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191408754	chr17:20237584-20237585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557704532	chr17:20237656-20237657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs2543900	chr17:20237665-20237666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573319331	chr17:20237694-20237695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2543899	chr17:20237697-20237698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs576046717	chr17:20237711-20237712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542187946	chr17:20237735-20237736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537098213	chr17:20237758-20237759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555574422	chr17:20237900-20237901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113352280	chr17:20237929-20237930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574117184	chr17:20237964-20237965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541248183	chr17:20237967-20237968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553558059	chr17:20238007-20238008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368115904	chr17:20238024-20238025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182726626	chr17:20238060-20238061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187793719	chr17:20238084-20238085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2586604	chr17:20238100-20238101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs572892592	chr17:20238169-20238170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531337023	chr17:20238172-20238173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs149852843	chr17:20238173-20238174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20224600-20241200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:20236200-20244800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links