Variant report

Variant	nsv978484
Chromosome Location	chr17:20487936-20489527
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr17:20487434-20488099	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr17:20487446-20488080	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr17:20488314-20488577	GM12878	blood:	n/a	n/a
4	POLR2A	chr17:20488077-20488117	H1-hESC	embryonic stem cell:	n/a	n/a
5	REST	chr17:20487185-20487972	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20489071-20489121	HepG2	liver:	n/a
2	chr17:20489071-20489121	SK-N-MC	brain:	n/a
3	chr17:20489071-20489121	NH-A	brain:	n/a
4	chr17:20489071-20489121	AG04450	lung:	fetal
5	chr17:20489071-20489121	HNPCEpiC	eye:	n/a
6	chr17:20489071-20489121	Caco-2	colon:	n/a
7	chr17:20489071-20489121	HL-60	blood:	n/a
8	chr17:20489071-20489121	GM12891	blood:	n/a
9	chr17:20489071-20489121	ovcar-3	ovarian:	n/a
10	chr17:20489071-20489121	LNCaP	prostate:	n/a
11	chr17:20489071-20489121	NB4	blood:	n/a
12	chr17:20489071-20489121	AG04449	skin:	fetal
13	chr17:20489071-20489121	NT2-D1	testis:	n/a
14	chr17:20489071-20489121	HCPEpiC	choroid plexus:	n/a
15	chr17:20489071-20489121	HIPEpiC	eye:	n/a
16	chr17:20489071-20489121	RPTEC	kidney:	n/a
17	chr17:20489071-20489121	HCT-116	colon:	n/a
18	chr17:20489071-20489121	GM06990	blood:	n/a
19	chr17:20489071-20489121	SK-N-SH_RA	brain:	n/a
20	chr17:20489071-20489121	HRE	kidney:	n/a
21	chr17:20489071-20489121	PANC-1	pancreas:	n/a
22	chr17:20489071-20489121	T-47D	breast:	n/a
23	chr17:20489071-20489121	HPAEpiC	pulmonary alveolar:	n/a
24	chr17:20489071-20489121	SAEC	small airway:	n/a
25	chr17:20489071-20489121	NHBE	bronchial:	n/a
26	chr17:20489071-20489121	AG10803	skin:	n/a
27	chr17:20489071-20489121	AoSMC	blood vessel:	n/a
28	chr17:20489071-20489121	GM12878	blood:	n/a
29	chr17:20489071-20489121	Hela-S3	cervix:	n/a
30	chr17:20489071-20489121	CMK	blood:	n/a
31	chr17:20489071-20489121	MCF-7	breast:	n/a
32	chr17:20489071-20489121	HUVEC	blood vessel:	n/a
33	chr17:20489071-20489121	NHDF-neo	bronchial:	n/a
34	chr17:20489071-20489121	Hepatocyte	liver:	n/a
35	chr17:20489071-20489121	IMR90	lung:	fetal
36	chr17:20489071-20489121	SKMC	muscle:	n/a
37	chr17:20489071-20489121	K562	blood:	n/a
38	chr17:20489071-20489121	PFSK-1	brain:	n/a
39	chr17:20489071-20489121	HCF	heart:	n/a
40	chr17:20489071-20489121	A549	lung:	n/a
41	chr17:20489071-20489121	Jurkat	blood:	n/a
42	chr17:20489071-20489121	GM19239	blood:	n/a
43	chr17:20489071-20489121	HRPEpiC	eye:	n/a
44	chr17:20489071-20489121	AG09309	skin:	n/a
45	chr17:20489071-20489121	HEK293	kidney:	embryo
46	chr17:20489071-20489121	ECC-1	luminal epithelium:	n/a
47	chr17:20489071-20489121	U87	brain:	n/a
48	chr17:20489071-20489121	HRCEpiC	kidney:	n/a
49	chr17:20489071-20489121	GM12892	blood:	n/a
50	chr17:20489071-20489121	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
MEIS3P2	TF binding region
MEIS3P2	CpG island

Extended variants
information (count: 61 )
Associated
traits (count: 149 )

Variant overlapped rSNPs/rCNVs (count:61 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530616230	chr17:20487972-20487973	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550930741	chr17:20487974-20487975	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs147181078	chr17:20487975-20487976	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs201373331	chr17:20488022-20488023	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs76850913	chr17:20488023-20488024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs56834160	chr17:20488024-20488025	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529125438	chr17:20488155-20488156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547681148	chr17:20488181-20488182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185333507	chr17:20488197-20488198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs377475353	chr17:20488213-20488214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533129311	chr17:20488218-20488219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189752374	chr17:20488242-20488243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140635868	chr17:20488349-20488350	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs537176008	chr17:20488354-20488355	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs555462900	chr17:20488430-20488431	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs375268711	chr17:20488466-20488467	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs180684749	chr17:20488488-20488489	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs58220184	chr17:20488489-20488490	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs553202790	chr17:20488544-20488545	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs578227857	chr17:20488561-20488562	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs147843904	chr17:20488635-20488636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs139063415	chr17:20488636-20488637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs186449054	chr17:20488651-20488652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543517878	chr17:20488657-20488658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561784506	chr17:20488681-20488682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529060217	chr17:20488706-20488707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538678161	chr17:20488731-20488732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541231180	chr17:20488736-20488737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397832415	chr17:20488755-20488756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs397832414	chr17:20488762-20488763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192260079	chr17:20488787-20488788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs58117074	chr17:20488788-20488789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397954330	chr17:20488791-20488792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369611313	chr17:20488841-20488842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs659542	chr17:20488843-20488844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77150062	chr17:20488844-20488845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116342414	chr17:20488849-20488850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149875309	chr17:20488943-20488944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530827414	chr17:20488988-20488989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549023961	chr17:20489000-20489001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs658678	chr17:20489028-20489029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs658645	chr17:20489056-20489057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547209034	chr17:20489072-20489073	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs149046660	chr17:20489079-20489080	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs539349455	chr17:20489104-20489105	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs557392760	chr17:20489121-20489122	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs576074923	chr17:20489170-20489171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs537055117	chr17:20489177-20489178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183583627	chr17:20489203-20489204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376525965	chr17:20489217-20489218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:149)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20472800-20492200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:20484800-20492200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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