Variant report

Variant	nsv962373
Chromosome Location	chr17:16568919-16576327
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	CEBPB	chr17:16574983-16575294	HepG2	liver:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
2	CEBPB	chr17:16575107-16575185	K562	blood:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
3	CEBPB	chr17:16575057-16575363	A549	lung:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
4	CEBPB	chr17:16575013-16575369	IMR90	lung:	n/a	chr17:16575111-16575124 chr17:16575113-16575124 chr17:16575111-16575122
5	CTCF	chr17:16569586-16569694	GM13976	blood:	n/a	n/a
6	CTCF	chr17:16572745-16572773	GM20000	blood:	n/a	n/a
7	CTCF	chr17:16569402-16569483	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr17:16569700-16569831	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr17:16570120-16570270	A549	lung:	n/a	chr17:16570238-16570247
10	CTCF	chr17:16571154-16571288	Lung_OC	lung:	n/a	n/a
11	CTCF	chr17:16570197-16570204	A549	lung:	n/a	n/a
12	CTCF	chr17:16569973-16570195	A549	lung:	n/a	chr17:16570027-16570040
13	CTCF	chr17:16572617-16572673	LNCaP	prostate:	n/a	n/a
14	E2F6	chr17:16570413-16570922	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr17:16570335-16571000	A549	lung:	n/a	chr17:16570374-16570383
16	E2F6	chr17:16570694-16570968	A549	lung:	n/a	n/a
17	E2F6	chr17:16570404-16570882	H1-hESC	embryonic stem cell:	n/a	n/a
18	EBF1	chr17:16569380-16569639	GM12878	blood:	n/a	n/a
19	EBF1	chr17:16569425-16569620	GM12878	blood:	n/a	n/a
20	ESR1	chr17:16575372-16575649	T-47D	breast:	n/a	chr17:16575501-16575518 chr17:16575500-16575517
21	ESR1	chr17:16575328-16575702	T-47D	breast:	n/a	chr17:16575501-16575518 chr17:16575500-16575517
22	FOXA2	chr17:16569355-16569630	A549	lung:	n/a	n/a
23	MAX	chr17:16570360-16570986	A549	lung:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
24	MAX	chr17:16570790-16570910	HepG2	liver:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
25	MAX	chr17:16570423-16570920	H1-hESC	embryonic stem cell:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
26	MAX	chr17:16570436-16570972	A549	lung:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
27	MAX	chr17:16570520-16570971	H1-hESC	embryonic stem cell:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
28	MAX	chr17:16570658-16570985	A549	lung:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
29	MXI1	chr17:16570576-16571018	SK-N-SH	brain:	n/a	chr17:16570854-16570863
30	MYC	chr17:16570646-16571011	A549	lung:	n/a	chr17:16570855-16570864 chr17:16570855-16570864 chr17:16570853-16570866
31	POLR2A	chr17:16569995-16570538	A549	lung:	n/a	n/a
32	POLR2A	chr17:16570043-16570533	A549	lung:	n/a	n/a
33	POLR2A	chr17:16569938-16570937	A549	lung:	n/a	n/a
34	POLR2A	chr17:16569593-16569696	MCF-7	breast:	n/a	n/a
35	POLR2A	chr17:16570338-16570582	A549	lung:	n/a	n/a
36	POLR2A	chr17:16570520-16570868	Gliobla	brain:	n/a	n/a
37	POLR2A	chr17:16570547-16570933	A549	lung:	n/a	n/a
38	POLR2A	chr17:16569978-16570119	A549	lung:	n/a	n/a
39	POLR2A	chr17:16570493-16570498	Gliobla	brain:	n/a	n/a
40	POLR2A	chr17:16570600-16570860	A549	lung:	n/a	n/a
41	POLR2A	chr17:16570624-16570907	A549	lung:	n/a	n/a
42	POLR2A	chr17:16569970-16570323	A549	lung:	n/a	n/a
43	POLR2A	chr17:16570506-16570516	Gliobla	brain:	n/a	n/a
44	POLR2A	chr17:16570338-16570951	A549	lung:	n/a	n/a
45	SPI1	chr17:16571123-16571318	GM12878	blood:	n/a	n/a
46	TAF1	chr17:16569968-16570965	A549	lung:	n/a	n/a
47	USF1	chr17:16570690-16571010	A549	lung:	n/a	chr17:16570853-16570864 chr17:16570853-16570866
48	USF1	chr17:16570766-16570945	GM12878	blood:	n/a	chr17:16570853-16570864 chr17:16570853-16570866
49	USF1	chr17:16570745-16570958	HepG2	liver:	n/a	chr17:16570853-16570864 chr17:16570853-16570866
50	USF1	chr17:16570637-16571070	A549	lung:	n/a	chr17:16570853-16570864 chr17:16570853-16570866

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16570850-16570900	SKMC	muscle:	n/a
2	chr17:16570066-16570116	SK-N-SH_RA	brain:	n/a
3	chr17:16569088-16569138	AG09309	skin:	n/a
4	chr17:16570066-16570116	NH-A	brain:	n/a
5	chr17:16570066-16570116	H1-hESC	embryonic stem cell:	embryo
6	chr17:16570066-16570116	BJ	skin:	n/a
7	chr17:16570483-16570533	ProgFib	skin:	n/a
8	chr17:16570473-16570523	HPAEpiC	pulmonary alveolar:	n/a
9	chr17:16570850-16570900	GM12891	blood:	n/a
10	chr17:16570837-16570887	HMEC	breast:	n/a
11	chr17:16570473-16570523	HCF	heart:	n/a
12	chr17:16570850-16570900	BJ	skin:	n/a
13	chr17:16570066-16570116	GM19239	blood:	n/a
14	chr17:16570837-16570887	BJ	skin:	n/a
15	chr17:16570483-16570533	HAEpiC	amniotic membrane:	n/a
16	chr17:16570483-16570533	GM12878	blood:	n/a
17	chr17:16570850-16570900	AG09309	skin:	n/a
18	chr17:16570169-16570219	NHBE	bronchial:	n/a
19	chr17:16570850-16570900	SK-N-MC	brain:	n/a
20	chr17:16570837-16570887	GM12892	blood:	n/a
21	chr17:16570066-16570116	IMR90	lung:	fetal
22	chr17:16570837-16570887	HepG2	liver:	n/a
23	chr17:16570066-16570116	AG09309	skin:	n/a
24	chr17:16570169-16570219	HepG2	liver:	n/a
25	chr17:16570066-16570116	SKMC	muscle:	n/a
26	chr17:16570837-16570887	HUVEC	blood vessel:	n/a
27	chr17:16569088-16569138	PFSK-1	brain:	n/a
28	chr17:16570483-16570533	AG09319	gingival:	n/a
29	chr17:16570066-16570116	A549	lung:	n/a
30	chr17:16570066-16570116	HRPEpiC	eye:	n/a
31	chr17:16570169-16570219	PANC-1	pancreas:	n/a
32	chr17:16570483-16570533	ECC-1	luminal epithelium:	n/a
33	chr17:16570837-16570887	GM12878	blood:	n/a
34	chr17:16569088-16569138	SK-N-SH_RA	brain:	n/a
35	chr17:16570483-16570533	SAEC	small airway:	n/a
36	chr17:16570169-16570219	HRE	kidney:	n/a
37	chr17:16570837-16570887	HAEpiC	amniotic membrane:	n/a
38	chr17:16570483-16570533	NHDF-neo	bronchial:	n/a
39	chr17:16570837-16570887	GM12891	blood:	n/a
40	chr17:16570169-16570219	HCT-116	colon:	n/a
41	chr17:16570483-16570533	CMK	blood:	n/a
42	chr17:16570837-16570887	NB4	blood:	n/a
43	chr17:16570473-16570523	HCT-116	colon:	n/a
44	chr17:16570473-16570523	HRCEpiC	kidney:	n/a
45	chr17:16570169-16570219	BJ	skin:	n/a
46	chr17:16570066-16570116	HCPEpiC	choroid plexus:	n/a
47	chr17:16570483-16570533	BE2_C	brain:	n/a
48	chr17:16570473-16570523	GM12891	blood:	n/a
49	chr17:16570837-16570887	Jurkat	blood:	n/a
50	chr17:16570850-16570900	A549	lung:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16555258..16557241-chr17:16567702..16570087,2	MCF-7	breast:
2	chr17:16556416..16558406-chr17:16573087..16576319,3	MCF-7	breast:

Variant related genes	Relation type
NEK4P2	TF binding region
NEK4P2	CpG island
ENSG00000197566	chromatin interactions
ENSG00000264765	chromatin interactions

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	rs375693247	chr17:16569054-16569055	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs553086620	chr17:16569057-16569058	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs112129473	chr17:16569074-16569075	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs537008321	chr17:16569138-16569139	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550552725	chr17:16569160-16569161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs570870930	chr17:16569197-16569198	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs539525533	chr17:16569214-16569215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs367640002	chr17:16569271-16569272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs111300943	chr17:16569356-16569357	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553464288	chr17:16569361-16569362	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573320962	chr17:16569367-16569368	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs183341623	chr17:16569409-16569410	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs201368432	chr17:16569425-16569426	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs556047108	chr17:16569429-16569430	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371900090	chr17:16569437-16569438	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs576014209	chr17:16569480-16569481	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs544970371	chr17:16569530-16569531	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs28636605	chr17:16569572-16569573	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs563907179	chr17:16569643-16569644	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577602892	chr17:16569644-16569645	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539916018	chr17:16569657-16569658	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs368104725	chr17:16569701-16569702	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs371025833	chr17:16569727-16569728	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs138598393	chr17:16569785-16569786	Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs544660765	chr17:16569805-16569806	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs374627450	chr17:16569835-16569836	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs560216381	chr17:16569884-16569885	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs529008690	chr17:16569904-16569905	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186595550	chr17:16569939-16569940	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562384416	chr17:16569940-16569941	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs531499522	chr17:16569946-16569947	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs202095917	chr17:16569992-16569993	Weak transcription Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs551682005	chr17:16570026-16570027	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs190463131	chr17:16570036-16570037	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs28525101	chr17:16570067-16570068	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs533376752	chr17:16570107-16570108	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs546748750	chr17:16570140-16570141	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs9907721	chr17:16570179-16570180	Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs116652603	chr17:16570225-16570226	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs28525658	chr17:16570259-16570260	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs569503797	chr17:16570359-16570360	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs538526763	chr17:16570380-16570381	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558444521	chr17:16570408-16570409	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs371270411	chr17:16570438-16570439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs9908973	chr17:16570439-16570440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs577539860	chr17:16570556-16570557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs187856061	chr17:16570574-16570575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs376343947	chr17:16570602-16570603	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532815156	chr17:16570608-16570609	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs9908891	chr17:16570661-16570662	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region	1 gene(s)	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:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16557400-16570000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:16567000-16570000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:16569600-16571000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr17:16569800-16570600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
5	chr17:16570000-16570200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:16570000-16570200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr17:16570000-16570200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr17:16570000-16570200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
9	chr17:16570000-16570200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:16570000-16570200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:16570000-16570200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:16570000-16570200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
13	chr17:16570000-16570200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:16570000-16570200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:16570000-16570200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:16570000-16570200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:16570000-16570200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr17:16570000-16570200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
19	chr17:16570000-16570200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr17:16570000-16570200	Bivalent Enhancer	Fetal Stomach	stomach
21	chr17:16570000-16570200	Enhancers	Gastric	stomach
22	chr17:16570000-16570200	Flanking Active TSS	Right Ventricle	heart
23	chr17:16570000-16570200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
24	chr17:16570000-16570400	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr17:16570000-16570400	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
26	chr17:16570000-16570400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
27	chr17:16570000-16570400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:16570000-16570400	Bivalent/Poised TSS	Left Ventricle	heart
29	chr17:16570000-16570400	Enhancers	Pancreas	Pancrea
30	chr17:16570000-16570400	Active TSS	Right Atrium	heart
31	chr17:16570000-16570400	Bivalent Enhancer	Spleen	Spleen
32	chr17:16570000-16570600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:16570000-16570600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr17:16570000-16570600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr17:16570000-16570600	Enhancers	Liver	Liver
36	chr17:16570000-16570600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr17:16570000-16570800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
38	chr17:16570000-16570800	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
39	chr17:16570000-16570800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
40	chr17:16570000-16570800	Flanking Bivalent TSS/Enh	HMEC	breast
41	chr17:16570000-16571000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
42	chr17:16570000-16571000	Active TSS	H9 Cell Line	embryonic stem cell
43	chr17:16570000-16571000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
44	chr17:16570000-16571000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr17:16570000-16571000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr17:16570000-16571000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr17:16570000-16571000	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:16570000-16571000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:16570000-16571000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr17:16570000-16571000	Bivalent/Poised TSS	Cortex derived primary cultured neurospheres	brain

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