Variant report

Variant	esv17385
Chromosome Location	chr17:20446442-20460042
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:550)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
2	CTCF	chr17:20458700-20458826	Spleen_OC	spleen:	n/a	n/a
3	CTCF	chr17:20458747-20458804	GM12892	blood:	n/a	n/a
4	CTCF	chr17:20448391-20448410	Kidney_OC	kidney:	n/a	n/a
5	CTCF	chr17:20456367-20456424	GM19240	blood:	n/a	n/a
6	CTCF	chr17:20452453-20452487	LNCaP	prostate:	n/a	n/a
7	CTCF	chr17:20457903-20457938	Lung_OC	lung:	n/a	n/a
8	CTCF	chr17:20458722-20458873	GM12891	blood:	n/a	n/a
9	FOSL2	chr17:20453744-20454093	HepG2	liver:	n/a	n/a
10	FOSL2	chr17:20452869-20453245	HepG2	liver:	n/a	n/a
11	FOSL2	chr17:20448386-20448629	HepG2	liver:	n/a	n/a
12	GABPA	chr17:20450160-20450376	Hela-S3	cervix:	n/a	n/a
13	GABPA	chr17:20455798-20455929	Hela-S3	cervix:	n/a	n/a
14	PAX5	chr17:20451052-20451297	GM12878	blood:	n/a	n/a
15	POLR2A	chr17:20458934-20459000	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:20456076-20456237	GM12878	blood:	n/a	n/a
17	REST	chr17:20453422-20453685	H1-hESC	embryonic stem cell:	n/a	chr17:20453568-20453577
18	REST	chr17:20458578-20458784	PANC-1	pancreas:	n/a	chr17:20458681-20458691
19	SPI1	chr17:20458700-20458928	GM12878	blood:	n/a	chr17:20458823-20458832
20	SPI1	chr17:20458692-20459021	GM12891	blood:	n/a	chr17:20458823-20458832
21	SPI1	chr17:20447005-20447192	K562	blood:	n/a	n/a
22	SPI1	chr17:20458740-20458906	GM12878	blood:	n/a	chr17:20458823-20458832
23	SPI1	chr17:20456356-20456495	K562	blood:	n/a	n/a
24	SPI1	chr17:20458592-20459059	GM12891	blood:	n/a	chr17:20458823-20458832

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20450466-20450516	HRCEpiC	kidney:	n/a
2	chr17:20450466-20450516	HRCEpiC	kidney:	n/a
3	chr17:20448558-20448608	Caco-2	colon:	n/a
4	chr17:20450484-20450534	MCF10A-Er-Src	breast:	n/a
5	chr17:20456385-20456435	HL-60	blood:	n/a
6	chr17:20456385-20456435	T-47D	breast:	n/a
7	chr17:20448558-20448608	HPAEpiC	pulmonary alveolar:	n/a
8	chr17:20456385-20456435	LNCaP	prostate:	n/a
9	chr17:20456901-20456951	HIPEpiC	eye:	n/a
10	chr17:20456901-20456951	AG09319	gingival:	n/a
11	chr17:20446526-20446576	HL-60	blood:	n/a
12	chr17:20458986-20459036	HL-60	blood:	n/a
13	chr17:20450484-20450534	NH-A	brain:	n/a
14	chr17:20446526-20446576	BE2_C	brain:	n/a
15	chr17:20456901-20456951	HEK293	kidney:	embryo
16	chr17:20458986-20459036	PANC-1	pancreas:	n/a
17	chr17:20456385-20456435	AG04449	skin:	fetal
18	chr17:20458672-20458722	BE2_C	brain:	n/a
19	chr17:20450466-20450516	AG09319	gingival:	n/a
20	chr17:20450466-20450516	GM19239	blood:	n/a
21	chr17:20446526-20446576	Caco-2	colon:	n/a
22	chr17:20450484-20450534	AG09309	skin:	n/a
23	chr17:20456385-20456435	BE2_C	brain:	n/a
24	chr17:20456901-20456951	SK-N-MC	brain:	n/a
25	chr17:20450484-20450534	ovcar-3	ovarian:	n/a
26	chr17:20456385-20456435	SK-N-SH_RA	brain:	n/a
27	chr17:20450466-20450516	PFSK-1	brain:	n/a
28	chr17:20450466-20450516	NT2-D1	testis:	n/a
29	chr17:20456901-20456951	NT2-D1	testis:	n/a
30	chr17:20450484-20450534	PFSK-1	brain:	n/a
31	chr17:20448558-20448608	ovcar-3	ovarian:	n/a
32	chr17:20458986-20459036	BE2_C	brain:	n/a
33	chr17:20458986-20459036	HCF	heart:	n/a
34	chr17:20456901-20456951	AG09309	skin:	n/a
35	chr17:20454132-20454182	AoSMC	blood vessel:	n/a
36	chr17:20454132-20454182	ovcar-3	ovarian:	n/a
37	chr17:20458672-20458722	AoSMC	blood vessel:	n/a
38	chr17:20456901-20456951	SKMC	muscle:	n/a
39	chr17:20456901-20456951	MCF10A-Er-Src	breast:	n/a
40	chr17:20458986-20459036	T-47D	breast:	n/a
41	chr17:20450466-20450516	BJ	skin:	n/a
42	chr17:20456901-20456951	GM12892	blood:	n/a
43	chr17:20458672-20458722	PANC-1	pancreas:	n/a
44	chr17:20448558-20448608	BE2_C	brain:	n/a
45	chr17:20458986-20459036	K562	blood:	n/a
46	chr17:20456901-20456951	AG04450	lung:	fetal
47	chr17:20456901-20456951	HPAEpiC	pulmonary alveolar:	n/a
48	chr17:20448558-20448608	H1-hESC	embryonic stem cell:	embryo
49	chr17:20456385-20456435	HRPEpiC	eye:	n/a
50	chr17:20458672-20458722	NHDF-neo	bronchial:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
2	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
3	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
4	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
5	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601

No data

Variant related genes	Relation type
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
TBC1D3P3	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
ENSG00000263946	CpG island
ENSG00000230339	CpG island
TBC1D3P3	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island

Extended variants
information (count: 154 )
Associated
traits (count: 150 )

Variant overlapped rSNPs/rCNVs (count:154 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550869565	chr17:20446460-20446461	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs573106204	chr17:20446461-20446462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs186445030	chr17:20446463-20446464	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs682793	chr17:20446483-20446484	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs536668699	chr17:20446507-20446508	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555368974	chr17:20446535-20446536	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs139008309	chr17:20446564-20446565	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs540720899	chr17:20446835-20446836	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs548693074	chr17:20447007-20447008	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567302839	chr17:20447033-20447034	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs534374906	chr17:20447034-20447035	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs201276527	chr17:20447057-20447058	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs546728061	chr17:20447064-20447065	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs571434561	chr17:20447065-20447066	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs1719918	chr17:20447135-20447136	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186038900	chr17:20447177-20447178	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs56397064	chr17:20447188-20447189	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs370550362	chr17:20447391-20447392	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs529161796	chr17:20447412-20447413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs553160259	chr17:20447417-20447418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs200485479	chr17:20448402-20448403	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs558523677	chr17:20448403-20448404	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs570516527	chr17:20448427-20448428	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs537909753	chr17:20448435-20448436	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs556633889	chr17:20448444-20448445	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs199712521	chr17:20448453-20448454	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs542390181	chr17:20448481-20448482	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs554107712	chr17:20448490-20448491	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs146895113	chr17:20448519-20448520	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs546519805	chr17:20448524-20448525	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs191297274	chr17:20448558-20448559	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
32	rs532157484	chr17:20448559-20448560	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
33	rs543941544	chr17:20448569-20448570	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
34	rs117230907	chr17:20448579-20448580	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
35	rs562580539	chr17:20448601-20448602	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
36	rs529785379	chr17:20448617-20448618	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs535617509	chr17:20449292-20449293	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs554342208	chr17:20449296-20449297	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs572684822	chr17:20449316-20449317	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs112359036	chr17:20449380-20449381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546483007	chr17:20449383-20449384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs558506630	chr17:20449416-20449417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs202245700	chr17:20449460-20449461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs200481819	chr17:20450194-20450195	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs529792385	chr17:20450234-20450235	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs112092589	chr17:20450467-20450468	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs150708087	chr17:20450484-20450485	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs527498689	chr17:20450492-20450493	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs688722	chr17:20450493-20450494	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs552026970	chr17:20450519-20450520	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:150)

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	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20457400-20457600	Enhancers	Fetal Muscle Trunk	muscle
2	chr17:20458600-20459000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr17:20458600-20459200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:20458600-20459400	Enhancers	Primary B cells from peripheral blood	blood
5	chr17:20458600-20459400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:20458600-20459600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:20459000-20459200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
8	chr17:20459000-20459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:20459000-20459400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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