Variant report

Variant	esv2431843
Chromosome Location	chr17:20609859-20614991
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	CEBPB	chr17:20614479-20614538	K562	blood:	n/a	n/a
2	CTCF	chr17:20610240-20610390	NHEK	skin:	n/a	n/a
3	CTCF	chr17:20610564-20610635	Fibrobl	skin:	n/a	n/a
4	EP300	chr17:20610005-20610073	GM12878	blood:	n/a	n/a
5	FOXA1	chr17:20612546-20612927	HepG2	liver:	n/a	n/a
6	FOXA1	chr17:20614064-20614296	HepG2	liver:	n/a	n/a
7	GTF2F1	chr17:20610357-20610552	Hela-S3	cervix:	n/a	n/a
8	IRF1	chr17:20610332-20610698	K562	blood:	n/a	chr17:20610526-20610540 chr17:20610526-20610539 chr17:20610525-20610539 chr17:20610526-20610540
9	MAX	chr17:20610277-20610641	MCF-7	breast:	n/a	chr17:20610551-20610558 chr17:20610384-20610395
10	MAX	chr17:20610320-20610682	Hela-S3	cervix:	n/a	chr17:20610551-20610558 chr17:20610384-20610395
11	MAZ	chr17:20610378-20610548	Hela-S3	cervix:	n/a	chr17:20610384-20610395
12	MXI1	chr17:20610459-20610603	Hela-S3	cervix:	n/a	n/a
13	MYC	chr17:20610446-20610622	MCF-7	breast:	n/a	chr17:20610551-20610558
14	MYC	chr17:20610430-20610578	MCF-7	breast:	n/a	chr17:20610551-20610558
15	MYC	chr17:20610399-20610656	MCF-7	breast:	n/a	chr17:20610551-20610558
16	POLR2A	chr17:20610502-20610631	Gliobla	brain:	n/a	n/a
17	POLR2A	chr17:20610343-20610778	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:20610494-20610728	GM12878	blood:	n/a	n/a
19	POLR2A	chr17:20610624-20610670	MCF-7	breast:	n/a	n/a
20	POLR2A	chr17:20610553-20610684	GM12878	blood:	n/a	n/a
21	POLR2A	chr17:20610483-20610652	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr17:20609926-20609969	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr17:20610509-20610630	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr17:20610479-20610606	A549	lung:	n/a	n/a
25	POLR2A	chr17:20610422-20610655	GM12878	blood:	n/a	n/a
26	POLR2A	chr17:20610458-20610605	MCF-7	breast:	n/a	n/a
27	STAT2	chr17:20610305-20610718	K562	blood:	n/a	chr17:20610527-20610538 chr17:20610525-20610540 chr17:20610687-20610699
28	USF2	chr17:20610323-20610603	Hela-S3	cervix:	n/a	chr17:20610383-20610394
29	ZNF384	chr17:20612421-20612422	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000264874	TF binding region
ENSG00000226521	TF binding region

Extended variants
information (count: 217 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114944856	chr17:20609987-20609988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572691028	chr17:20610008-20610009	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539996865	chr17:20610026-20610027	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs140697428	chr17:20610050-20610051	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs532278558	chr17:20610053-20610054	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs549036261	chr17:20610060-20610061	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs142371975	chr17:20610118-20610119	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs550868621	chr17:20610126-20610127	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs112835576	chr17:20610131-20610132	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs562724094	chr17:20610175-20610176	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535436710	chr17:20610186-20610187	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs111765499	chr17:20610271-20610272	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374986822	chr17:20610331-20610332	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs77478901	chr17:20610350-20610351	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548701451	chr17:20610383-20610384	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs567013805	chr17:20610405-20610406	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs75226763	chr17:20610432-20610433	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74587950	chr17:20610435-20610436	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs190544818	chr17:20610437-20610438	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs377241242	chr17:20610448-20610449	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139574379	chr17:20610456-20610457	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556842128	chr17:20610479-20610480	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572125094	chr17:20610493-20610494	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs112288041	chr17:20610514-20610515	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541163940	chr17:20610556-20610557	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564148299	chr17:20610564-20610565	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181856022	chr17:20610569-20610570	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs187057612	chr17:20610604-20610605	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572556035	chr17:20610633-20610634	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112585730	chr17:20610640-20610641	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558297670	chr17:20610666-20610667	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs577004061	chr17:20610718-20610719	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs544157323	chr17:20610748-20610749	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114176926	chr17:20610751-20610752	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs117931107	chr17:20610765-20610766	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530035167	chr17:20610819-20610820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181308900	chr17:20610843-20610844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73981792	chr17:20610853-20610854	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs527759873	chr17:20610901-20610902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552737795	chr17:20610906-20610907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570933452	chr17:20610934-20610935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs531976603	chr17:20610935-20610936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs377359570	chr17:20610947-20610948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550195959	chr17:20610951-20610952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs367754869	chr17:20611009-20611010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568695987	chr17:20611047-20611048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs149710525	chr17:20611063-20611064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146763319	chr17:20611068-20611069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs370295405	chr17:20611072-20611073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs140436456	chr17:20611080-20611081	Weak transcription	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
Breast cancer	22522925	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20608800-20610200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:20609400-20614800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:20610000-20610200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:20610000-20610200	Active TSS	NHEK	skin
5	chr17:20610200-20610400	Active TSS	Duodenum Mucosa	Duodenum
6	chr17:20610200-20610600	Enhancers	Placenta	Placenta
7	chr17:20610200-20610600	Active TSS	Rectal Smooth Muscle	rectum
8	chr17:20610200-20610600	Flanking Active TSS	NHEK	skin
9	chr17:20610200-20610800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr17:20610200-20610800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:20610200-20610800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr17:20610200-20610800	Active TSS	Hela-S3	cervix
13	chr17:20610400-20610600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:20610400-20610600	Flanking Active TSS	Duodenum Mucosa	Duodenum
15	chr17:20610600-20610800	Enhancers	NHEK	skin
16	chr17:20610800-20611000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:20610800-20611000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:20610800-20611000	Enhancers	Hela-S3	cervix
19	chr17:20614800-20615000	Enhancers	Primary hematopoietic stem cells short term culture	blood

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