Variant report

Variant	nsv978392
Chromosome Location	chr17:20813336-20817974
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:
2	chr17:20816615..20818286-chr17:20839545..20841333,2	K562	blood:
3	chr17:20814750..20817226-chr17:20817362..20820351,2	K562	blood:
4	chr17:20814247..20817277-chr17:20817362..20820386,3	K562	blood:
5	chr17:20815505..20817984-chr17:20903354..20904947,2	MCF-7	breast:
6	chr17:20814750..20817226-chr17:20817362..20820351,2	K562	blood:

Extended variants
information (count: 189 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:189 , 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	rs386796080	chr17:20813358-20813359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560808959	chr17:20813363-20813364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576881515	chr17:20813374-20813375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370804560	chr17:20813375-20813376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546646766	chr17:20813378-20813379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572276138	chr17:20813380-20813381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs565258889	chr17:20813441-20813442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113287586	chr17:20813450-20813451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182923471	chr17:20813455-20813456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187980805	chr17:20813504-20813505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs12450581	chr17:20813574-20813575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs536804762	chr17:20813598-20813599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs192828632	chr17:20813602-20813603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567028873	chr17:20813603-20813604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12453688	chr17:20813638-20813639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs552731189	chr17:20813640-20813641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577559631	chr17:20813642-20813643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs559168345	chr17:20813643-20813644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371500170	chr17:20813687-20813688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374789463	chr17:20813697-20813698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147066591	chr17:20813700-20813701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138356902	chr17:20813747-20813748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs368483074	chr17:20813764-20813765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542377244	chr17:20813788-20813789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560867868	chr17:20813791-20813792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184504795	chr17:20813889-20813890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370733749	chr17:20813925-20813926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368596881	chr17:20813960-20813961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143550034	chr17:20813965-20813966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532533876	chr17:20813977-20813978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544728598	chr17:20813986-20813987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187847516	chr17:20813995-20813996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530339936	chr17:20814040-20814041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533436717	chr17:20814069-20814070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567041830	chr17:20814081-20814082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs528017527	chr17:20814123-20814124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148069271	chr17:20814138-20814139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571156555	chr17:20814144-20814145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538204193	chr17:20814148-20814149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556651507	chr17:20814150-20814151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574776069	chr17:20814160-20814161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192612347	chr17:20814199-20814200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78576401	chr17:20814201-20814202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572982955	chr17:20814211-20814212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs115795598	chr17:20814246-20814247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558777780	chr17:20814257-20814258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529396747	chr17:20814263-20814264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs141775300	chr17:20814324-20814325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527879907	chr17:20814367-20814368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373191222	chr17:20814368-20814369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:150)

Disease	PMID	Source
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
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20812200-20824800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr17:20812400-20818000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr17:20812400-20818600	Weak transcription	Left Ventricle	heart
4	chr17:20812600-20816400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:20812600-20817200	Weak transcription	K562	blood
6	chr17:20812600-20819400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr17:20812600-20819800	Weak transcription	Right Atrium	heart
8	chr17:20812600-20823200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr17:20812600-20830800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr17:20812800-20819000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:20813200-20819600	Weak transcription	Hela-S3	cervix
12	chr17:20816400-20817000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:20817000-20819000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:20817000-20819400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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