Variant report

Variant	nsv960064
Chromosome Location	chr17:16755492-16758719
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:16756731-16756825	GM13977	blood:	n/a	n/a
2	CTCF	chr17:16755687-16755698	Lung_OC	lung:	n/a	n/a
3	CTCF	chr17:16755498-16755684	Lung_OC	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16757305-16757355	SKMC	muscle:	n/a
2	chr17:16757305-16757355	GM12891	blood:	n/a
3	chr17:16757356-16757406	BJ	skin:	n/a
4	chr17:16757305-16757355	HNPCEpiC	eye:	n/a
5	chr17:16757356-16757406	Hepatocyte	liver:	n/a
6	chr17:16757305-16757355	PANC-1	pancreas:	n/a
7	chr17:16757305-16757355	HAEpiC	amniotic membrane:	n/a
8	chr17:16757305-16757355	PrEC	prostate:	n/a
9	chr17:16757305-16757355	ECC-1	luminal epithelium:	n/a
10	chr17:16757356-16757406	SAEC	small airway:	n/a
11	chr17:16757356-16757406	U87	brain:	n/a
12	chr17:16757356-16757406	HCM	heart:	n/a
13	chr17:16757356-16757406	GM06990	blood:	n/a
14	chr17:16757356-16757406	CMK	blood:	n/a
15	chr17:16757356-16757406	HPAEpiC	pulmonary alveolar:	n/a
16	chr17:16757356-16757406	HEEpiC	esophagus:	n/a
17	chr17:16757305-16757355	HCF	heart:	n/a
18	chr17:16757305-16757355	HIPEpiC	eye:	n/a
19	chr17:16757305-16757355	HPAEpiC	pulmonary alveolar:	n/a
20	chr17:16757356-16757406	AG09319	gingival:	n/a
21	chr17:16757305-16757355	SK-N-MC	brain:	n/a
22	chr17:16757305-16757355	GM19239	blood:	n/a
23	chr17:16757356-16757406	HCF	heart:	n/a
24	chr17:16757305-16757355	BE2_C	brain:	n/a
25	chr17:16757305-16757355	Hepatocyte	liver:	n/a
26	chr17:16757305-16757355	LNCaP	prostate:	n/a
27	chr17:16757356-16757406	GM12878	blood:	n/a
28	chr17:16757356-16757406	PFSK-1	brain:	n/a
29	chr17:16757305-16757355	ProgFib	skin:	n/a
30	chr17:16757305-16757355	GM06990	blood:	n/a
31	chr17:16757356-16757406	SK-N-SH_RA	brain:	n/a
32	chr17:16757356-16757406	ECC-1	luminal epithelium:	n/a
33	chr17:16757305-16757355	HepG2	liver:	n/a
34	chr17:16757356-16757406	NB4	blood:	n/a
35	chr17:16757305-16757355	K562	blood:	n/a
36	chr17:16757305-16757355	HCT-116	colon:	n/a
37	chr17:16757305-16757355	ovcar-3	ovarian:	n/a
38	chr17:16757356-16757406	AG10803	skin:	n/a
39	chr17:16757305-16757355	NHBE	bronchial:	n/a
40	chr17:16757305-16757355	Hela-S3	cervix:	n/a
41	chr17:16757356-16757406	AoSMC	blood vessel:	n/a
42	chr17:16757356-16757406	HMEC	breast:	n/a
43	chr17:16757305-16757355	AG04449	skin:	fetal
44	chr17:16757356-16757406	HIPEpiC	eye:	n/a
45	chr17:16757356-16757406	ProgFib	skin:	n/a
46	chr17:16757305-16757355	SAEC	small airway:	n/a
47	chr17:16757305-16757355	NB4	blood:	n/a
48	chr17:16757356-16757406	HAEpiC	amniotic membrane:	n/a
49	chr17:16757305-16757355	MCF10A-Er-Src	breast:	n/a
50	chr17:16757356-16757406	AG09309	skin:	n/a

No data

Variant related genes	Relation type
COTL1P1	TF binding region
ENSG00000205312	TF binding region
COTL1P1	CpG island
ENSG00000205312	CpG island

Extended variants
information (count: 149 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376847236	chr17:16755498-16755499	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs189953831	chr17:16755536-16755537	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs544559373	chr17:16755550-16755551	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs7212545	chr17:16755556-16755557	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs533486994	chr17:16755617-16755618	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs113079099	chr17:16755649-16755650	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs567035929	chr17:16755688-16755689	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs535708777	chr17:16755699-16755700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544165554	chr17:16755728-16755729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7213416	chr17:16755779-16755780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557350512	chr17:16755840-16755841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577293546	chr17:16755874-16755875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539918536	chr17:16755898-16755899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9675098	chr17:16755991-16755992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573772047	chr17:16756105-16756106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7218621	chr17:16756121-16756122	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562761044	chr17:16756123-16756124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs551903842	chr17:16756128-16756129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs151327865	chr17:16756151-16756152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs544589360	chr17:16756170-16756171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564451243	chr17:16756172-16756173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533398845	chr17:16756213-16756214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs547060425	chr17:16756267-16756268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566897371	chr17:16756286-16756287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs9916768	chr17:16756293-16756294	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs60949196	chr17:16756304-16756305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs57789459	chr17:16756309-16756310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56192520	chr17:16756349-16756350	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs538169330	chr17:16756384-16756385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558060652	chr17:16756427-16756428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570898151	chr17:16756436-16756437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs552509779	chr17:16756446-16756447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs141263119	chr17:16756449-16756450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569140766	chr17:16756498-16756499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573662619	chr17:16756528-16756529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs371781461	chr17:16756529-16756530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542770851	chr17:16756538-16756539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556104873	chr17:16756547-16756548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576330249	chr17:16756618-16756619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545308376	chr17:16756652-16756653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112082663	chr17:16756769-16756770	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs565218171	chr17:16756776-16756777	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs11654316	chr17:16756796-16756797	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs192747528	chr17:16756809-16756810	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
45	rs560594293	chr17:16756817-16756818	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
46	rs529385609	chr17:16756838-16756839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549527713	chr17:16756843-16756844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137956898	chr17:16756850-16756851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs183665883	chr17:16756866-16756867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551651429	chr17:16756871-16756872	Weak transcription	n/a	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16754800-16761200	Weak transcription	Stomach Mucosa	stomach
2	chr17:16757600-16758000	Enhancers	Placenta	Placenta
3	chr17:16757600-16758200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr17:16758000-16758200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:16758000-16758200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr17:16758200-16775200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:16758400-16760400	Enhancers	Fetal Intestine Large	intestine
8	chr17:16758400-16760600	Enhancers	Fetal Intestine Small	intestine

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