Variant report

Variant	nsv962383
Chromosome Location	chr17:20550274-20556742
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	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
2	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
3	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
4	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
5	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
6	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
7	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
10	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
11	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
12	CTCF	chr17:20549973-20550331	K562	blood:	n/a	chr17:20550147-20550160
13	CTCF	chr17:20550042-20550331	Kidney_OC	kidney:	n/a	chr17:20550147-20550160
14	CTCF	chr17:20550031-20550353	MCF-7	breast:	n/a	chr17:20550147-20550160
15	CTCF	chr17:20550053-20550331	Medullo	brain:	n/a	chr17:20550147-20550160
16	CTCF	chr17:20550020-20550310	HFF-Myc	foreskin:	n/a	chr17:20550147-20550160
17	CTCF	chr17:20550019-20550357	Lung_OC	lung:	n/a	chr17:20550147-20550160
18	CTCF	chr17:20550027-20550304	GM19239	blood:	n/a	chr17:20550147-20550160
19	CTCF	chr17:20550063-20550303	IMR90	lung:	n/a	chr17:20550147-20550160
20	CTCF	chr17:20550005-20550363	A549	lung:	n/a	chr17:20550147-20550160
21	CTCF	chr17:20550033-20550334	HUVEC	blood vessel:	n/a	chr17:20550147-20550160
22	CTCF	chr17:20550055-20550282	LNCaP	prostate:	n/a	chr17:20550147-20550160
23	CTCF	chr17:20550042-20550340	MCF-7	breast:	n/a	chr17:20550147-20550160
24	CTCF	chr17:20550041-20550384	A549	lung:	n/a	chr17:20550147-20550160
25	CTCF	chr17:20550036-20550306	GM12892	blood:	n/a	chr17:20550147-20550160
26	CTCF	chr17:20549951-20550417	K562	blood:	n/a	chr17:20550147-20550160
27	CTCF	chr17:20550034-20550338	MCF-7	breast:	n/a	chr17:20550147-20550160
28	CTCF	chr17:20550034-20550323	H1-hESC	embryonic stem cell:	n/a	chr17:20550147-20550160
29	CTCF	chr17:20549966-20550326	GM12878	blood:	n/a	chr17:20550147-20550160
30	CTCF	chr17:20550015-20550363	MCF-7	breast:	n/a	chr17:20550147-20550160
31	CTCF	chr17:20550440-20550590	HCM	heart:	n/a	n/a
32	CTCF	chr17:20549975-20550305	H1-hESC	embryonic stem cell:	n/a	chr17:20550147-20550160
33	CTCF	chr17:20549965-20550467	A549	lung:	n/a	chr17:20550147-20550160
34	CTCF	chr17:20550029-20550314	GM12891	blood:	n/a	chr17:20550147-20550160
35	CTCF	chr17:20550043-20550338	Spleen_OC	spleen:	n/a	chr17:20550147-20550160
36	CTCF	chr17:20549930-20550487	A549	lung:	n/a	chr17:20550147-20550160
37	CTCF	chr17:20550027-20550318	GM12878	blood:	n/a	chr17:20550147-20550160
38	CTCF	chr17:20549944-20550540	K562	blood:	n/a	chr17:20550147-20550160
39	CTCF	chr17:20550031-20550367	A549	lung:	n/a	chr17:20550147-20550160
40	CTCF	chr17:20550334-20550336	Medullo	brain:	n/a	n/a
41	CTCF	chr17:20550011-20550403	K562	blood:	n/a	chr17:20550147-20550160
42	CTCF	chr17:20549859-20550357	SK-N-SH	brain:	n/a	chr17:20550147-20550160
43	CTCF	chr17:20550040-20550347	MCF-7	breast:	n/a	chr17:20550147-20550160
44	CTCF	chr17:20550036-20550338	Hela-S3	cervix:	n/a	chr17:20550147-20550160
45	CTCF	chr17:20550042-20550412	GM10266	blood:	n/a	chr17:20550147-20550160
46	CTCF	chr17:20549972-20550341	H1-hESC	embryonic stem cell:	n/a	chr17:20550147-20550160
47	CTCF	chr17:20550160-20550310	WI-38	lung:	n/a	n/a
48	CTCF	chr17:20549953-20550387	K562	blood:	n/a	chr17:20550147-20550160
49	CTCF	chr17:20550019-20550356	Gliobla	brain:	n/a	chr17:20550147-20550160
50	CTCF	chr17:20550031-20550332	Fibrobl	skin:	n/a	chr17:20550147-20550160

Variant related genes	Relation type
ENSG00000236504	TF binding region

Extended variants
information (count: 281 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs397813409	chr17:20550275-20550276	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs550784790	chr17:20550367-20550368	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569119249	chr17:20550385-20550386	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs147955188	chr17:20550414-20550415	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs552088481	chr17:20550421-20550422	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs571828587	chr17:20550432-20550433	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs3844429	chr17:20550447-20550448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs1810411	chr17:20550460-20550461	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs139923321	chr17:20550484-20550485	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs530977608	chr17:20550496-20550497	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs2310982	chr17:20550519-20550520	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs2324038	chr17:20550529-20550530	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs558912632	chr17:20550560-20550561	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs570574160	chr17:20550562-20550563	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs12943459	chr17:20550565-20550566	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs12952481	chr17:20550585-20550586	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs574722980	chr17:20550586-20550587	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs542494379	chr17:20550595-20550596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs567428982	chr17:20550601-20550602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12936294	chr17:20550624-20550625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397813055	chr17:20550646-20550647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs397735400	chr17:20550647-20550648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572721323	chr17:20550655-20550656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs539804170	chr17:20550673-20550674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564913395	chr17:20550677-20550678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532242150	chr17:20550730-20550731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544351327	chr17:20550746-20550747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs609323	chr17:20550916-20550917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562654901	chr17:20550951-20550952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs609244	chr17:20550971-20550972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4082327	chr17:20551033-20551034	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs199667888	chr17:20551116-20551117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78242	chr17:20551125-20551126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548385605	chr17:20551145-20551146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566600466	chr17:20551167-20551168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs151065829	chr17:20551179-20551180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552281546	chr17:20551195-20551196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570561578	chr17:20551199-20551200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs537930039	chr17:20551238-20551239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs370852451	chr17:20551244-20551245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs397697748	chr17:20551312-20551313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs397778234	chr17:20551324-20551325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs76815934	chr17:20551440-20551441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs535646032	chr17:20551441-20551442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs140972525	chr17:20551442-20551443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs150356024	chr17:20551469-20551470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs572639414	chr17:20551472-20551473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397809335	chr17:20551476-20551477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114321087	chr17:20551497-20551498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs145015457	chr17:20551513-20551514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20549800-20550600	Enhancers	Fetal Heart	heart
2	chr17:20550200-20552000	Weak transcription	Primary B cells from peripheral blood	blood
3	chr17:20550400-20553000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr17:20551200-20552600	Enhancers	GM12878-XiMat	blood
5	chr17:20551600-20556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr17:20551800-20555800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr17:20552000-20553400	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr17:20552000-20555800	Enhancers	Primary B cells from peripheral blood	blood
9	chr17:20552600-20553000	Flanking Active TSS	GM12878-XiMat	blood
10	chr17:20553000-20553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr17:20553000-20556000	Enhancers	GM12878-XiMat	blood
12	chr17:20553200-20554000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr17:20553400-20553800	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr17:20553800-20554400	Enhancers	Primary hematopoietic stem cells	blood
15	chr17:20553800-20555600	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr17:20554000-20555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:20554200-20554600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr17:20554400-20554800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:20554800-20555400	Enhancers	Primary hematopoietic stem cells	blood
22	chr17:20555000-20555200	Enhancers	Placenta	Placenta
23	chr17:20556000-20557000	Weak transcription	GM12878-XiMat	blood
24	chr17:20556400-20557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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