Variant report

Variant	esv2050726
Chromosome Location	chr17:17753828-17753829
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	POLR2A	chr17:17752479-17753839	K562	blood:	n/a	n/a
2	PRDM1	chr17:17753218-17753933	Hela-S3	cervix:	n/a	chr17:17753543-17753556 chr17:17753543-17753557 chr17:17753547-17753556 chr17:17753542-17753557
3	RCOR1	chr17:17753351-17753837	K562	blood:	n/a	n/a
4	ZNF263	chr17:17752431-17754071	HEK293-T-REx	kidney:	n/a	chr17:17753261-17753270 chr17:17753195-17753204 chr17:17754052-17754061 chr17:17752782-17752791 chr17:17753733-17753742

No.	Distal block	Cell Line	Cell type
1	chr17:17753025..17757325-chr17:17758223..17762488,4	MCF-7	breast:
2	chr17:17584818..17588540-chr17:17752581..17756325,4	K562	blood:
3	chr17:17583605..17586318-chr17:17753777..17755939,2	K562	blood:

Variant related genes	Relation type
TOM1L2	TF binding region
ENSG00000108557	chromatin interactions
ENSG00000197815	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 161 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12941550	chr17:17753828-17753829	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:161)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Burkitt''s lymphoma	19759907	CNVD
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Urothelial carcinoma	21177765	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
Acute myeloid leukemia	17237825	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
Adenoid cystic carcinoma	18332873	CNVD
Colorectal cancer	16774939	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
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Gastric cancer	18160780	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
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic cancer	17952125	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17744400-17756200	Weak transcription	Aorta	Aorta
2	chr17:17744400-17771400	Weak transcription	Fetal Brain Male	brain
3	chr17:17745200-17770600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:17748200-17755800	Enhancers	Fetal Thymus	thymus
5	chr17:17748800-17755400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr17:17749200-17755400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:17749200-17755400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:17749400-17760200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr17:17749800-17755200	Genic enhancers	Fetal Muscle Trunk	muscle
10	chr17:17750200-17755200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:17750200-17760200	Genic enhancers	Fetal Intestine Small	intestine
12	chr17:17750600-17755800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:17750600-17756400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr17:17750800-17754200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr17:17750800-17755400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:17751000-17755200	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr17:17751200-17754000	Genic enhancers	Colonic Mucosa	Colon
18	chr17:17751200-17754400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:17751200-17754400	Enhancers	Ovary	ovary
20	chr17:17751200-17755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:17751200-17755200	Enhancers	Brain Hippocampus Middle	brain
22	chr17:17751400-17754800	Enhancers	Right Atrium	heart
23	chr17:17751400-17755200	Enhancers	Brain Anterior Caudate	brain
24	chr17:17751400-17755600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:17751600-17754000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:17751600-17754000	Enhancers	Osteobl	bone
27	chr17:17751600-17754200	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr17:17751600-17754400	Genic enhancers	Placenta	Placenta
29	chr17:17751600-17754800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr17:17751600-17755200	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr17:17751600-17755800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr17:17751600-17771600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr17:17751800-17754000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:17751800-17754000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr17:17751800-17754000	Enhancers	Primary hematopoietic stem cells	blood
36	chr17:17751800-17754200	Enhancers	Brain Angular Gyrus	brain
37	chr17:17751800-17754200	Enhancers	Colon Smooth Muscle	Colon
38	chr17:17751800-17754200	Enhancers	Duodenum Mucosa	Duodenum
39	chr17:17751800-17754200	Enhancers	GM12878-XiMat	blood
40	chr17:17751800-17754400	Genic enhancers	Spleen	Spleen
41	chr17:17751800-17754400	Enhancers	Dnd41	blood
42	chr17:17751800-17754400	Enhancers	HSMMtube	muscle
43	chr17:17751800-17754800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr17:17751800-17755000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr17:17751800-17755200	Enhancers	Brain Cingulate Gyrus	brain
46	chr17:17751800-17755200	Enhancers	Lung	lung
47	chr17:17751800-17755400	Enhancers	Brain Substantia Nigra	brain
48	chr17:17751800-17756600	Enhancers	Left Ventricle	heart
49	chr17:17751800-17756600	Enhancers	K562	blood
50	chr17:17751800-17756800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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