Variant report

Variant	nsv960063
Chromosome Location	chr17:16649044-16662779
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:62)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr17:16655478-16655512	K562	blood:	n/a	n/a
2	CTCF	chr17:16654660-16654810	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr17:16654652-16654790	HepG2	liver:	n/a	n/a
4	CTCF	chr17:16655072-16655235	GM10266	blood:	n/a	n/a
5	CTCF	chr17:16654624-16654914	A549	lung:	n/a	n/a
6	CTCF	chr17:16654660-16654810	HRE	kidney:	n/a	n/a
7	CTCF	chr17:16655258-16655311	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr17:16654660-16654810	HAc	cerebellar:	n/a	n/a
9	CTCF	chr17:16654660-16654810	AG04450	lung:	n/a	n/a
10	CTCF	chr17:16655040-16655190	GM12865	blood:	n/a	n/a
11	CTCF	chr17:16655449-16655452	A549	lung:	n/a	n/a
12	CTCF	chr17:16654720-16654870	NHDF-neo	bronchial:	n/a	n/a
13	CTCF	chr17:16654640-16654790	WI-38	lung:	n/a	n/a
14	CTCF	chr17:16655271-16655499	MCF-7	breast:	n/a	n/a
15	CTCF	chr17:16654612-16654892	A549	lung:	n/a	n/a
16	CTCF	chr17:16654640-16654790	GM12868	blood:	n/a	n/a
17	CTCF	chr17:16655340-16655421	Gliobla	brain:	n/a	n/a
18	CTCF	chr17:16654700-16654850	HCT-116	colon:	n/a	n/a
19	CTCF	chr17:16655100-16655250	MCF-7	breast:	n/a	n/a
20	CTCF	chr17:16654655-16654808	SK-N-SH_RA	brain:	n/a	n/a
21	CTCF	chr17:16654692-16654831	MCF-7	breast:	n/a	n/a
22	CTCF	chr17:16655256-16655504	MCF-7	breast:	n/a	n/a
23	CTCF	chr17:16654640-16654790	RPTEC	kidney:	n/a	n/a
24	CTCF	chr17:16654660-16654810	HVMF	connective:	n/a	n/a
25	CTCF	chr17:16654640-16654790	NB4	blood:	n/a	n/a
26	CTCF	chr17:16655110-16655182	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:16654585-16654854	K562	blood:	n/a	n/a
28	CTCF	chr17:16654649-16654825	MCF-7	breast:	n/a	n/a
29	CTCF	chr17:16654700-16654850	GM12865	blood:	n/a	n/a
30	CTCF	chr17:16655120-16655270	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr17:16654680-16654830	GM12878	blood:	n/a	n/a
32	CTCF	chr17:16654699-16654802	MCF-7	breast:	n/a	n/a
33	CTCF	chr17:16654499-16654906	A549	lung:	n/a	n/a
34	CTCF	chr17:16654871-16654874	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr17:16654612-16654840	GM12878	blood:	n/a	n/a
36	CTCF	chr17:16654650-16654804	HepG2	liver:	n/a	n/a
37	CTCF	chr17:16655115-16655189	NHEK	skin:	n/a	n/a
38	CTCF	chr17:16654667-16654848	GM19240	blood:	n/a	n/a
39	CTCF	chr17:16654700-16654850	GM12864	blood:	n/a	n/a
40	CTCF	chr17:16655120-16655270	NHEK	skin:	n/a	n/a
41	CTCF	chr17:16654588-16654878	A549	lung:	n/a	n/a
42	CTCF	chr17:16654680-16654830	HBMEC	blood vessel:	n/a	n/a
43	CTCF	chr17:16654660-16654810	AG09319	gingival:	n/a	n/a
44	CTCF	chr17:16654660-16654810	HepG2	liver:	n/a	n/a
45	CTCF	chr17:16654700-16654850	GM12867	blood:	n/a	n/a
46	CTCF	chr17:16654680-16654830	WERI-Rb-1	eye:	n/a	n/a
47	CTCF	chr17:16654700-16654850	HAc	cerebellar:	n/a	n/a
48	CTCF	chr17:16654554-16654891	Gliobla	brain:	n/a	n/a
49	CTCF	chr17:16655239-16655256	Kidney_OC	kidney:	n/a	n/a
50	CTCF	chr17:16654680-16654830	AG04449	skin:	n/a	n/a

(count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16649246-16649296	SAEC	small airway:	n/a
2	chr17:16649246-16649296	SAEC	small airway:	n/a
3	chr17:16649246-16649296	AG09309	skin:	n/a
4	chr17:16649246-16649296	GM12891	blood:	n/a
5	chr17:16649246-16649296	CMK	blood:	n/a
6	chr17:16649246-16649296	PANC-1	pancreas:	n/a
7	chr17:16649246-16649296	NH-A	brain:	n/a
8	chr17:16649246-16649296	SK-N-MC	brain:	n/a
9	chr17:16649246-16649296	BJ	skin:	n/a
10	chr17:16649246-16649296	AG10803	skin:	n/a
11	chr17:16649246-16649296	U87	brain:	n/a
12	chr17:16649246-16649296	HMEC	breast:	n/a
13	chr17:16649246-16649296	NT2-D1	testis:	n/a
14	chr17:16649246-16649296	NHDF-neo	bronchial:	n/a
15	chr17:16649246-16649296	AoSMC	blood vessel:	n/a
16	chr17:16649246-16649296	HRCEpiC	kidney:	n/a
17	chr17:16649246-16649296	HCM	heart:	n/a
18	chr17:16649246-16649296	LNCaP	prostate:	n/a
19	chr17:16649246-16649296	NHBE	bronchial:	n/a
20	chr17:16649246-16649296	GM12878	blood:	n/a
21	chr17:16649246-16649296	AG09319	gingival:	n/a
22	chr17:16649246-16649296	HRPEpiC	eye:	n/a
23	chr17:16649246-16649296	ovcar-3	ovarian:	n/a
24	chr17:16649246-16649296	GM06990	blood:	n/a
25	chr17:16649246-16649296	PrEC	prostate:	n/a
26	chr17:16649246-16649296	HRE	kidney:	n/a
27	chr17:16649246-16649296	HEK293	kidney:	embryo
28	chr17:16649246-16649296	GM12892	blood:	n/a
29	chr17:16649246-16649296	HCF	heart:	n/a
30	chr17:16649246-16649296	Hela-S3	cervix:	n/a
31	chr17:16649246-16649296	K562	blood:	n/a
32	chr17:16649246-16649296	HCT-116	colon:	n/a
33	chr17:16649246-16649296	NB4	blood:	n/a
34	chr17:16649246-16649296	SK-N-SH_RA	brain:	n/a
35	chr17:16649246-16649296	HepG2	liver:	n/a
36	chr17:16649246-16649296	GM19239	blood:	n/a
37	chr17:16649246-16649296	HPAEpiC	pulmonary alveolar:	n/a
38	chr17:16649246-16649296	HCPEpiC	choroid plexus:	n/a
39	chr17:16649246-16649296	SK-N-SH	brain:	n/a
40	chr17:16649246-16649296	SKMC	muscle:	n/a
41	chr17:16649246-16649296	HEEpiC	esophagus:	n/a
42	chr17:16649246-16649296	ProgFib	skin:	n/a
43	chr17:16649246-16649296	RPTEC	kidney:	n/a
44	chr17:16649246-16649296	IMR90	lung:	fetal
45	chr17:16649246-16649296	MCF-7	breast:	n/a
46	chr17:16649246-16649296	MCF10A-Er-Src	breast:	n/a
47	chr17:16649246-16649296	A549	lung:	n/a
48	chr17:16649246-16649296	T-47D	breast:	n/a
49	chr17:16649246-16649296	HIPEpiC	eye:	n/a
50	chr17:16649246-16649296	AG04449	skin:	fetal

No data

Variant related genes	Relation type
UPF3AP1	TF binding region
UPF3AP1	CpG island

Extended variants
information (count: 226 )
Associated
traits (count: 159 )

Variant overlapped rSNPs/rCNVs (count:226 , 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	rs550600373	chr17:16649229-16649230	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
2	rs12449564	chr17:16649232-16649233	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
3	rs2621532	chr17:16649235-16649236	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
4	rs562614135	chr17:16649238-16649239	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
5	rs532362390	chr17:16649246-16649247	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
6	rs552609505	chr17:16649273-16649274	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
7	rs566150872	chr17:16649279-16649280	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
8	rs2586647	chr17:16649281-16649282	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
9	rs187379561	chr17:16649287-16649288	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
10	rs114491844	chr17:16649289-16649290	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
11	rs568538666	chr17:16649300-16649301	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
12	rs2543782	chr17:16649304-16649305	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
13	rs537696483	chr17:16649333-16649334	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
14	rs557358473	chr17:16649378-16649379	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
15	rs2621531	chr17:16649385-16649386	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
16	rs577472430	chr17:16649395-16649396	Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
17	rs545345304	chr17:16649424-16649425	Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs2586646	chr17:16649428-16649429	Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs559663304	chr17:16649462-16649463	Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs552568920	chr17:16649479-16649480	Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs370181880	chr17:16649585-16649586	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141884494	chr17:16649586-16649587	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs2349271	chr17:16649594-16649595	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2349272	chr17:16649595-16649596	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs398119737	chr17:16649600-16649601	Active TSS Bivalent/Poised TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs111938474	chr17:16649609-16649610	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs899788	chr17:16649615-16649616	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs192159768	chr17:16649636-16649637	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs744526	chr17:16649646-16649647	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs200013367	chr17:16649651-16649652	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112471586	chr17:16649653-16649654	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs61189456	chr17:16649654-16649655	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs376441548	chr17:16649658-16649659	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs368485402	chr17:16649659-16649660	Active TSS Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs561872344	chr17:16649722-16649723	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs182663400	chr17:16649735-16649736	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs552077703	chr17:16649750-16649751	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs544405575	chr17:16649752-16649753	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs565434639	chr17:16649778-16649779	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs564179664	chr17:16649799-16649800	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs2621530	chr17:16649810-16649811	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs187313595	chr17:16649828-16649829	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs2003884	chr17:16649880-16649881	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs552571464	chr17:16649882-16649883	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs146000507	chr17:16649883-16649884	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs566062867	chr17:16649939-16649940	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs528523019	chr17:16649943-16649944	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs548697675	chr17:16649955-16649956	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs568580552	chr17:16649956-16649957	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs113550349	chr17:16649971-16649972	Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:159)

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	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16648800-16649600	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr17:16649000-16649400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr17:16649000-16649400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:16649000-16649400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr17:16649000-16649400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr17:16649000-16649600	Active TSS	H1 Cell Line	embryonic stem cell
7	chr17:16649000-16649600	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr17:16649000-16649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr17:16649000-16649800	Active TSS	HUES48 Cell Line	embryonic stem cell
10	chr17:16649000-16650000	Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:16649000-16650000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr17:16649200-16649400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr17:16649200-16649400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:16649200-16649400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr17:16649200-16649400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:16649200-16649400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr17:16649200-16649400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr17:16649200-16649400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr17:16649200-16649400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:16649200-16649400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
23	chr17:16649200-16649400	Bivalent Enhancer	Fetal Kidney	kidney
24	chr17:16649200-16649400	Bivalent Enhancer	Fetal Lung	lung
25	chr17:16649200-16649400	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr17:16649200-16649400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
27	chr17:16649200-16649400	Bivalent Enhancer	HSMM	muscle
28	chr17:16649200-16649600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:16649200-16649600	Active TSS	Brain Anterior Caudate	brain
30	chr17:16649200-16649600	Active TSS	Brain Cingulate Gyrus	brain
31	chr17:16649200-16649800	Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr17:16649400-16649600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr17:16649400-16649600	Bivalent/Poised TSS	Fetal Brain Female	brain
34	chr17:16649400-16650000	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr17:16650000-16650200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:16652200-16653400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr17:16652400-16652600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr17:16653200-16653600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:16653200-16654600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr17:16653400-16654200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:16653600-16654000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:16654000-16655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr17:16654200-16654400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:16654200-16654600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:16654200-16654600	Enhancers	NHEK	skin
46	chr17:16654200-16654800	Enhancers	NH-A	brain
47	chr17:16654200-16655000	Enhancers	Dnd41	blood
48	chr17:16654200-16655000	Enhancers	Osteobl	bone
49	chr17:16654600-16655400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr17:16654800-16655000	Enhancers	Brain Anterior Caudate	brain

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