Variant report

Variant	nsv9509
Chromosome Location	chr17:20600897-20606898
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 304 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:304 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545761725	chr17:20600921-20600922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111710847	chr17:20600950-20600951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs112529327	chr17:20600953-20600954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs564399431	chr17:20600999-20601000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2787047	chr17:20601042-20601043	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs367760266	chr17:20601146-20601147	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145878134	chr17:20601149-20601150	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562077001	chr17:20601151-20601152	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs184603198	chr17:20601154-20601155	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190140336	chr17:20601159-20601160	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs484520	chr17:20601203-20601204	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11869184	chr17:20601227-20601228	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs375262217	chr17:20601234-20601235	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568680808	chr17:20601237-20601238	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540060038	chr17:20601259-20601260	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111852707	chr17:20601280-20601281	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs534469932	chr17:20601297-20601298	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570061295	chr17:20601336-20601337	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537439889	chr17:20601393-20601394	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555692880	chr17:20601399-20601400	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs371509051	chr17:20601538-20601539	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs574395202	chr17:20601570-20601571	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181297968	chr17:20601614-20601615	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553866053	chr17:20601635-20601636	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs572123682	chr17:20601642-20601643	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145920271	chr17:20601646-20601647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs2448294	chr17:20601647-20601648	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2254213	chr17:20601668-20601669	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs112584327	chr17:20601671-20601672	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs2254211	chr17:20601678-20601679	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs369194168	chr17:20601696-20601697	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs186341817	chr17:20601710-20601711	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs543746642	chr17:20601789-20601790	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562037558	chr17:20601800-20601801	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529306005	chr17:20601801-20601802	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
36	rs113155770	chr17:20601802-20601803	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
37	rs533359586	chr17:20601815-20601816	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
38	rs551600842	chr17:20601837-20601838	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
39	rs569918277	chr17:20601866-20601867	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
40	rs531082135	chr17:20601903-20601904	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
41	rs549281277	chr17:20601920-20601921	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
42	rs189338707	chr17:20601993-20601994	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
43	rs147428208	chr17:20602011-20602012	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
44	rs553581927	chr17:20602057-20602058	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
45	rs370207589	chr17:20602066-20602067	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
46	rs565804935	chr17:20602087-20602088	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
47	rs554151007	chr17:20602113-20602114	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
48	rs539546299	chr17:20602130-20602131	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
49	rs8065015	chr17:20602149-20602150	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs372608966	chr17:20602159-20602160	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	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	17122850	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20596400-20601400	Weak transcription	Primary B cells from peripheral blood	blood
2	chr17:20596400-20601600	Weak transcription	Primary T cells from cord blood	blood
3	chr17:20598600-20601400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:20599200-20601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:20599600-20601600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr17:20599600-20601600	Weak transcription	HMEC	breast
7	chr17:20599600-20601600	Weak transcription	NHEK	skin
8	chr17:20600400-20601600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr17:20600800-20601000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr17:20601000-20601800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
11	chr17:20601000-20601800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:20601000-20603000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr17:20601000-20603400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr17:20601400-20601600	Enhancers	Primary B cells from peripheral blood	blood
15	chr17:20601400-20601800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr17:20601400-20602200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:20601400-20604200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:20601600-20601800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:20601600-20601800	Active TSS	GM12878-XiMat	blood
20	chr17:20601600-20601800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr17:20601600-20602200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr17:20601600-20602200	Enhancers	Primary T cells from cord blood	blood
23	chr17:20601600-20602200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
24	chr17:20601600-20602400	Flanking Active TSS	Primary B cells from peripheral blood	blood
25	chr17:20601600-20602400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:20601600-20602400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:20601600-20602400	Enhancers	NHEK	skin
28	chr17:20601600-20603200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr17:20601600-20603400	Enhancers	Fetal Thymus	thymus
30	chr17:20601600-20603800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:20601600-20604800	Enhancers	HMEC	breast
32	chr17:20601800-20602200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:20601800-20602200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr17:20601800-20602200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
35	chr17:20601800-20602200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr17:20601800-20602200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr17:20601800-20602200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr17:20601800-20602200	Enhancers	Duodenum Mucosa	Duodenum
39	chr17:20601800-20602200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr17:20601800-20602200	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr17:20601800-20602200	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr17:20601800-20602200	Flanking Active TSS	GM12878-XiMat	blood
43	chr17:20601800-20602200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr17:20601800-20602400	Active TSS	Primary B cells from cord blood	blood
45	chr17:20601800-20602600	Enhancers	Stomach Mucosa	stomach
46	chr17:20601800-20603000	Enhancers	Thymus	Thymus
47	chr17:20601800-20603000	Enhancers	Hela-S3	cervix
48	chr17:20601800-20603400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr17:20601800-20603400	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr17:20602000-20602200	Enhancers	Primary hematopoietic stem cells	blood

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