Variant report

Variant	esv2175118
Chromosome Location	chr17:16879297-16879298
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	ATF2	chr17:16879256-16880184	GM12878	blood:	n/a	n/a
2	ATF2	chr17:16878298-16880053	GM12878	blood:	n/a	n/a
3	BCLAF1	chr17:16878367-16880024	GM12878	blood:	n/a	n/a
4	BHLHE40	chr17:16878364-16880280	GM12878	blood:	n/a	n/a
5	CEBPB	chr17:16878432-16880095	GM12878	blood:	n/a	n/a
6	CHD1	chr17:16878240-16880652	GM12878	blood:	n/a	n/a
7	CHD2	chr17:16878225-16879969	GM12878	blood:	n/a	n/a
8	CUX1	chr17:16878126-16879966	GM12878	blood:	n/a	n/a
9	EBF1	chr17:16878504-16879327	GM12878	blood:	n/a	n/a
10	EBF1	chr17:16878510-16879933	GM12878	blood:	n/a	chr17:16879702-16879713
11	EBF1	chr17:16878282-16880926	GM12878	blood:	n/a	chr17:16879702-16879713
12	ELK1	chr17:16878696-16879332	GM12878	blood:	n/a	n/a
13	EP300	chr17:16878282-16880413	GM12878	blood:	n/a	chr17:16879297-16879311 chr17:16879298-16879312
14	EP300	chr17:16878390-16880675	GM12878	blood:	n/a	chr17:16879297-16879311 chr17:16879298-16879312
15	FOXM1	chr17:16878167-16880028	GM12878	blood:	n/a	n/a
16	FOXM1	chr17:16878248-16880298	GM12878	blood:	n/a	n/a
17	IKZF1	chr17:16878253-16880127	GM12878	blood:	n/a	n/a
18	IRF3	chr17:16879140-16879781	GM12878	blood:	n/a	n/a
19	IRF4	chr17:16878454-16879963	GM12878	blood:	n/a	n/a
20	MAX	chr17:16879145-16880773	GM12878	blood:	n/a	n/a
21	MAZ	chr17:16878412-16879990	GM12878	blood:	n/a	n/a
22	MEF2A	chr17:16878361-16879330	GM12878	blood:	n/a	chr17:16878837-16878851
23	MEF2A	chr17:16878288-16880050	GM12878	blood:	n/a	chr17:16878837-16878851
24	MTA3	chr17:16878127-16880599	GM12878	blood:	n/a	n/a
25	MTA3	chr17:16878010-16881023	GM12878	blood:	n/a	n/a
26	MXI1	chr17:16878465-16880743	GM12878	blood:	n/a	n/a
27	NFATC1	chr17:16878386-16880024	GM12878	blood:	n/a	n/a
28	NFATC1	chr17:16878490-16880091	GM12878	blood:	n/a	n/a
29	NFIC	chr17:16878293-16880132	GM12878	blood:	n/a	n/a
30	NFIC	chr17:16878245-16880801	GM12878	blood:	n/a	n/a
31	NRF1	chr17:16879070-16879418	GM12878	blood:	n/a	n/a
32	PML	chr17:16878377-16880180	GM12878	blood:	n/a	n/a
33	POLR2A	chr17:16878086-16880910	GM12892	blood:	n/a	n/a
34	POLR2A	chr17:16879143-16879322	GM12878	blood:	n/a	n/a
35	POLR2A	chr17:16878976-16879950	GM12892	blood:	n/a	n/a
36	POLR2A	chr17:16877924-16880892	GM12892	blood:	n/a	n/a
37	POLR2A	chr17:16879013-16879427	GM12891	blood:	n/a	n/a
38	POLR2A	chr17:16878230-16880821	GM12878	blood:	n/a	n/a
39	POLR2A	chr17:16879040-16879886	GM12891	blood:	n/a	n/a
40	POLR2A	chr17:16878056-16880305	GM12892	blood:	n/a	n/a
41	POLR2A	chr17:16878427-16879927	GM12878	blood:	n/a	n/a
42	POLR2A	chr17:16878617-16880545	GM12878	blood:	n/a	n/a
43	POLR2A	chr17:16879106-16879788	GM12878	blood:	n/a	n/a
44	POLR2A	chr17:16878985-16879919	GM12891	blood:	n/a	n/a
45	POLR2A	chr17:16878302-16880573	GM12891	blood:	n/a	n/a
46	POLR2A	chr17:16879118-16879318	GM12878	blood:	n/a	n/a
47	POLR2A	chr17:16878062-16880885	GM12878	blood:	n/a	n/a
48	POLR2A	chr17:16878342-16880680	GM18505	blood:	n/a	n/a
49	POLR2A	chr17:16879072-16879440	GM12891	blood:	n/a	n/a
50	RCOR1	chr17:16878383-16880321	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16864871..16867780-chr17:16878608..16880115,2	MCF-7	breast:

Variant related genes	Relation type
TNFRSF13B	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 158 )

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	rs5819594	chr17:16879297-16879298	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:158)

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
Pancreatic cancer	21811587	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
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16867400-16883800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16873000-16880800	Enhancers	Fetal Thymus	thymus
3	chr17:16874200-16880000	Enhancers	Dnd41	blood
4	chr17:16875200-16885800	Enhancers	Primary B cells from cord blood	blood
5	chr17:16875800-16887200	Enhancers	Primary B cells from peripheral blood	blood
6	chr17:16877400-16879600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:16878000-16882800	Flanking Active TSS	GM12878-XiMat	blood
8	chr17:16878400-16880600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr17:16878400-16883600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr17:16878600-16880200	Enhancers	Thymus	Thymus
11	chr17:16878600-16881600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr17:16878800-16879600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:16878800-16884200	Weak transcription	Rectal Mucosa Donor 31	rectum

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