Variant report

Variant	esv3328922
Chromosome Location	chr17:20742885-20745733
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569337889	chr17:20742917-20742918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536842320	chr17:20742950-20742951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555161271	chr17:20743083-20743084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs111919298	chr17:20743219-20743220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573466514	chr17:20743278-20743279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs2015068	chr17:20743318-20743319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs546232299	chr17:20743370-20743371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146143687	chr17:20743384-20743385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543159968	chr17:20743447-20743448	Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs556194966	chr17:20743449-20743450	Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs2039701	chr17:20743475-20743476	Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62069321	chr17:20743493-20743494	Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs577604118	chr17:20743567-20743568	Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs34258849	chr17:20743605-20743606	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs375421800	chr17:20743627-20743628	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs563067397	chr17:20743628-20743629	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs569397554	chr17:20743629-20743630	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs530473811	chr17:20743654-20743655	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542420556	chr17:20743655-20743656	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs144672918	chr17:20743667-20743668	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs112072456	chr17:20743701-20743702	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs546605823	chr17:20743702-20743703	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs571502871	chr17:20743762-20743763	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs532415150	chr17:20743767-20743768	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs35500349	chr17:20743776-20743777	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554521192	chr17:20743805-20743806	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs542838019	chr17:20743812-20743813	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs78297727	chr17:20743817-20743818	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs398119753	chr17:20743818-20743819	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200810306	chr17:20743819-20743820	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs569383463	chr17:20743828-20743829	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs115530188	chr17:20743907-20743908	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs193047009	chr17:20743953-20743954	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566981618	chr17:20744008-20744009	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs547569546	chr17:20744030-20744031	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs534391765	chr17:20744046-20744047	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs367748203	chr17:20744051-20744052	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs559005809	chr17:20744110-20744111	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs577439701	chr17:20744124-20744125	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs544684375	chr17:20744184-20744185	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs185301865	chr17:20744240-20744241	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs189835002	chr17:20744256-20744257	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs574882373	chr17:20744269-20744270	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs542358845	chr17:20744293-20744294	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs560628080	chr17:20744319-20744320	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs35847073	chr17:20744321-20744322	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs540387530	chr17:20744366-20744367	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs565053634	chr17:20744373-20744374	Bivalent/Poised TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs9905397	chr17:20744447-20744448	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs9906238	chr17:20744465-20744466	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:149)

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

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20741800-20743400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:20743400-20743600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr17:20743600-20743800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:20743600-20744000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:20743600-20744800	Active TSS	Primary hematopoietic stem cells	blood
6	chr17:20743800-20744000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
7	chr17:20743800-20744000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20743800-20744600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
9	chr17:20743800-20744600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr17:20743800-20745200	Active TSS	Colon Smooth Muscle	Colon
11	chr17:20744000-20744400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:20744000-20744400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr17:20744000-20744400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr17:20744000-20744400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr17:20744000-20744400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
16	chr17:20744000-20744600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
17	chr17:20744000-20744600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
18	chr17:20744200-20744600	Bivalent Enhancer	Psoas Muscle	Psoas
19	chr17:20744400-20744600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr17:20744400-20744600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr17:20744400-20744600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
25	chr17:20744400-20744600	Bivalent Enhancer	Adipose Nuclei	Adipose
26	chr17:20744400-20744600	Bivalent Enhancer	Fetal Brain Male	brain
27	chr17:20744400-20744600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
28	chr17:20744400-20744600	Bivalent Enhancer	Fetal Stomach	stomach
29	chr17:20744400-20744800	Enhancers	Primary B cells from peripheral blood	blood
30	chr17:20744400-20744800	Bivalent/Poised TSS	Primary T helper cells PMA-I stimulated	--
31	chr17:20744400-20744800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr17:20744400-20744800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr17:20744400-20744800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr17:20744400-20744800	Bivalent Enhancer	Left Ventricle	heart
37	chr17:20744400-20744800	Bivalent Enhancer	Ovary	ovary
38	chr17:20744400-20744800	Enhancers	Pancreas	Pancrea
39	chr17:20744400-20744800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
40	chr17:20744400-20744800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
41	chr17:20744400-20745200	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr17:20744600-20744800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr17:20744600-20744800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:20744600-20744800	Bivalent/Poised TSS	Adipose Nuclei	Adipose
45	chr17:20744600-20744800	Bivalent Enhancer	Brain Hippocampus Middle	brain
46	chr17:20744600-20744800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
47	chr17:20744600-20745000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
48	chr17:20744600-20745000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:20744600-20745400	Enhancers	Spleen	Spleen
50	chr17:20744800-20745000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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