Variant report

Variant	nsv962268
Chromosome Location	chr17:16559570-16566202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr17:16559873-16560077	HepG2	liver:	n/a	chr17:16560005-16560016
2	CTCF	chr17:16561460-16561610	HEK293	kidney:	n/a	n/a
3	CTCF	chr17:16563633-16563719	Lung_OC	lung:	n/a	n/a
4	CTCF	chr17:16561320-16561470	GM12872	blood:	n/a	n/a
5	CTCF	chr17:16564373-16564423	GM20000	blood:	n/a	n/a
6	STAT3	chr17:16565461-16565596	MCF10A-Er-Src	breast:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16559599-16559649	H1-hESC	embryonic stem cell:	embryo
2	chr17:16559599-16559649	HCF	heart:	n/a
3	chr17:16559599-16559649	HCT-116	colon:	n/a
4	chr17:16559599-16559649	HRE	kidney:	n/a
5	chr17:16559599-16559649	Caco-2	colon:	n/a
6	chr17:16559599-16559649	LNCaP	prostate:	n/a
7	chr17:16559599-16559649	IMR90	lung:	fetal
8	chr17:16559599-16559649	U87	brain:	n/a
9	chr17:16559599-16559649	NB4	blood:	n/a
10	chr17:16559599-16559649	PrEC	prostate:	n/a
11	chr17:16559599-16559649	HL-60	blood:	n/a
12	chr17:16559599-16559649	HMEC	breast:	n/a
13	chr17:16559599-16559649	ovcar-3	ovarian:	n/a
14	chr17:16559599-16559649	MCF10A-Er-Src	breast:	n/a
15	chr17:16559599-16559649	HCPEpiC	choroid plexus:	n/a
16	chr17:16559599-16559649	HIPEpiC	eye:	n/a
17	chr17:16559599-16559649	AG09319	gingival:	n/a
18	chr17:16559599-16559649	HAEpiC	amniotic membrane:	n/a
19	chr17:16559599-16559649	SKMC	muscle:	n/a
20	chr17:16559599-16559649	Hela-S3	cervix:	n/a
21	chr17:16559599-16559649	CMK	blood:	n/a
22	chr17:16559599-16559649	GM19239	blood:	n/a
23	chr17:16559599-16559649	AG04449	skin:	fetal
24	chr17:16559599-16559649	A549	lung:	n/a
25	chr17:16559599-16559649	AG04450	lung:	fetal
26	chr17:16559599-16559649	HEK293	kidney:	embryo
27	chr17:16559599-16559649	HCM	heart:	n/a
28	chr17:16559599-16559649	GM12891	blood:	n/a
29	chr17:16559599-16559649	Jurkat	blood:	n/a
30	chr17:16559599-16559649	NT2-D1	testis:	n/a
31	chr17:16559599-16559649	HRCEpiC	kidney:	n/a
32	chr17:16559599-16559649	SK-N-MC	brain:	n/a
33	chr17:16559599-16559649	NH-A	brain:	n/a
34	chr17:16559599-16559649	PFSK-1	brain:	n/a
35	chr17:16559599-16559649	Hepatocyte	liver:	n/a
36	chr17:16559599-16559649	AG10803	skin:	n/a
37	chr17:16559599-16559649	NHDF-neo	bronchial:	n/a
38	chr17:16559599-16559649	ECC-1	luminal epithelium:	n/a
39	chr17:16559599-16559649	BJ	skin:	n/a
40	chr17:16559599-16559649	K562	blood:	n/a
41	chr17:16559599-16559649	HNPCEpiC	eye:	n/a
42	chr17:16559599-16559649	AG09309	skin:	n/a
43	chr17:16559599-16559649	SK-N-SH	brain:	n/a
44	chr17:16559599-16559649	GM12892	blood:	n/a
45	chr17:16559599-16559649	T-47D	breast:	n/a
46	chr17:16559599-16559649	NHBE	bronchial:	n/a
47	chr17:16559599-16559649	HRPEpiC	eye:	n/a
48	chr17:16559599-16559649	SK-N-SH_RA	brain:	n/a
49	chr17:16559599-16559649	GM12878	blood:	n/a
50	chr17:16559599-16559649	BE2_C	brain:	n/a

No data

Variant related genes	Relation type
ZNF624	TF binding region
ZNF624	CpG island

Extended variants
information (count: 246 )
Associated
traits (count: 158 )

Variant overlapped rSNPs/rCNVs (count:246 , 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	rs142753041	chr17:16559571-16559572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541529973	chr17:16559599-16559600	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
3	rs530333467	chr17:16559600-16559601	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
4	rs528090445	chr17:16559604-16559605	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
5	rs550361580	chr17:16559623-16559624	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs561738500	chr17:16559636-16559637	Weak transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs538935862	chr17:16559664-16559665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147370982	chr17:16559669-16559670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs116169311	chr17:16559708-16559709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184599420	chr17:16559812-16559813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs36116613	chr17:16559891-16559892	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs534634243	chr17:16559911-16559912	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs554332980	chr17:16559915-16559916	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574483504	chr17:16559970-16559971	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs543204795	chr17:16560023-16560024	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs557117193	chr17:16560027-16560028	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs59486407	chr17:16560038-16560039	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs187067414	chr17:16560041-16560042	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs548870874	chr17:16560073-16560074	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs58164310	chr17:16560091-16560092	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs541433752	chr17:16560111-16560112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59594997	chr17:16560113-16560114	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs530217980	chr17:16560116-16560117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549953192	chr17:16560117-16560118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550044690	chr17:16560127-16560128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569895908	chr17:16560141-16560142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532593626	chr17:16560154-16560155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552425009	chr17:16560155-16560156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35363296	chr17:16560160-16560161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534280614	chr17:16560208-16560209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548169759	chr17:16560222-16560223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529404946	chr17:16560266-16560267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs537142151	chr17:16560277-16560278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557128244	chr17:16560309-16560310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577091468	chr17:16560310-16560311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191703472	chr17:16560318-16560319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs553271480	chr17:16560342-16560343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142502373	chr17:16560362-16560363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs184295526	chr17:16560395-16560396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs573105651	chr17:16560414-16560415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs59840112	chr17:16560425-16560426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs375742576	chr17:16560437-16560438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561322912	chr17:16560477-16560478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574771358	chr17:16560519-16560520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs569193901	chr17:16560537-16560538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150595635	chr17:16560577-16560578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566144031	chr17:16560584-16560585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139618739	chr17:16560602-16560603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532533411	chr17:16560673-16560674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs570366545	chr17:16560684-16560685	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
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16557200-16561800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:16557400-16570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr17:16557800-16566000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr17:16561800-16562000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:16562000-16566600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:16562200-16563400	Weak transcription	NHEK	skin
7	chr17:16563000-16567000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr17:16563400-16564400	Enhancers	NHEK	skin
9	chr17:16564400-16565800	Weak transcription	NHEK	skin
10	chr17:16565800-16566800	Enhancers	NHEK	skin
11	chr17:16566000-16567000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr17:16566200-16567000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr17:16566200-16567000	Enhancers	HMEC	breast

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