Variant report

Variant	nsv960543
Chromosome Location	chr17:20330367-20335259
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	chr17:20332253-20332281	Lung_OC	lung:	n/a	n/a
2	POU2F2	chr17:20330224-20330507	GM12878	blood:	n/a	n/a
3	STAT3	chr17:20335074-20335275	MCF10A-Er-Src	breast:	n/a	chr17:20335196-20335207 chr17:20335198-20335206
4	STAT3	chr17:20335095-20335276	MCF10A-Er-Src	breast:	n/a	chr17:20335196-20335207 chr17:20335198-20335206
5	STAT3	chr17:20335075-20335273	MCF10A-Er-Src	breast:	n/a	chr17:20335196-20335207 chr17:20335198-20335206

Variant related genes	Relation type
ENSG00000265556	TF binding region
NOS2P3	TF binding region

Extended variants
information (count: 163 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs542493564	chr17:20330368-20330369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560786628	chr17:20330369-20330370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs528054951	chr17:20330439-20330440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542973707	chr17:20330445-20330446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs560044550	chr17:20330493-20330494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564921271	chr17:20330527-20330528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4110066	chr17:20330530-20330531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370510268	chr17:20330701-20330702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550662173	chr17:20330716-20330717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4110067	chr17:20330721-20330722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs529863263	chr17:20330730-20330731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369135348	chr17:20330753-20330754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374434250	chr17:20330754-20330755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35370633	chr17:20330756-20330757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76490929	chr17:20330792-20330793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112422051	chr17:20330793-20330794	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
17	rs372965301	chr17:20330794-20330795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34413635	chr17:20330808-20330809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs566414758	chr17:20330931-20330932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368311095	chr17:20330958-20330959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370888628	chr17:20330994-20330995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13341877	chr17:20331025-20331026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs182040971	chr17:20331035-20331036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570864432	chr17:20331074-20331075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537910466	chr17:20331126-20331127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs2694192	chr17:20331131-20331132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs575058806	chr17:20331141-20331142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536068216	chr17:20331171-20331172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368661356	chr17:20331214-20331215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551016102	chr17:20331271-20331272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs3897108	chr17:20331290-20331291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs554438463	chr17:20331355-20331356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572626738	chr17:20331383-20331384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546520647	chr17:20331394-20331395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2694193	chr17:20331407-20331408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs12950172	chr17:20331469-20331470	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs574810444	chr17:20331539-20331540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576778899	chr17:20331566-20331567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2694194	chr17:20331575-20331576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs192452893	chr17:20331603-20331604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372712297	chr17:20331639-20331640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562259347	chr17:20331640-20331641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12942125	chr17:20331704-20331705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs143798104	chr17:20331705-20331706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs559963985	chr17:20331713-20331714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs72326327	chr17:20331751-20331752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527581653	chr17:20331801-20331802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552454671	chr17:20331831-20331832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570708881	chr17:20331833-20331834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538260198	chr17:20331920-20331921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20314600-20337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20326800-20336400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr17:20327400-20334600	Weak transcription	Brain Angular Gyrus	brain
4	chr17:20330600-20336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links