Variant report

Variant	nsv482681
Chromosome Location	chr17:16609078-16767235
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:836)
CpG islands
(count:793)
Chromatin interactive
region (count:2)
LncRNA
region (count:15)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:836 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:16719341-16719384	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:16719169-16719457	K562	blood:	n/a	n/a
3	BATF	chr17:16625165-16625430	GM12878	blood:	n/a	n/a
4	BATF	chr17:16711019-16711268	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
5	BATF	chr17:16638089-16638468	GM12878	blood:	n/a	n/a
6	BATF	chr17:16638159-16638457	GM12878	blood:	n/a	n/a
7	BATF	chr17:16710949-16711369	GM12878	blood:	n/a	chr17:16711188-16711198 chr17:16711187-16711198
8	BATF	chr17:16612551-16612747	GM12878	blood:	n/a	n/a
9	BATF	chr17:16617967-16618171	GM12878	blood:	n/a	n/a
10	BATF	chr17:16648342-16648531	GM12878	blood:	n/a	n/a
11	BATF	chr17:16617753-16618210	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:16617949-16618181	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:16638200-16638440	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:16655478-16655512	K562	blood:	n/a	n/a
15	BRCA1	chr17:16764549-16764560	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr17:16763881-16764076	A549	lung:	n/a	chr17:16764008-16764019
17	CEBPB	chr17:16676545-16676704	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr17:16613014-16613307	K562	blood:	n/a	n/a
19	CEBPB	chr17:16663012-16663205	IMR90	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
20	CEBPB	chr17:16663026-16663220	A549	lung:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
21	CEBPB	chr17:16764004-16764108	HepG2	liver:	n/a	chr17:16764008-16764019
22	CEBPB	chr17:16764555-16764730	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr17:16663042-16663112	K562	blood:	n/a	chr17:16663087-16663100 chr17:16663087-16663100 chr17:16663087-16663098 chr17:16663087-16663100 chr17:16663089-16663098
24	CEBPB	chr17:16613038-16613211	K562	blood:	n/a	n/a
25	CEBPB	chr17:16612522-16612646	K562	blood:	n/a	n/a
26	CEBPB	chr17:16763876-16764183	Hela-S3	cervix:	n/a	chr17:16764008-16764019
27	CHD2	chr17:16764544-16764744	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr17:16733780-16733930	BJ	skin:	n/a	n/a
29	CTCF	chr17:16654680-16654830	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr17:16719921-16719989	GM13976	blood:	n/a	n/a
31	CTCF	chr17:16654510-16654864	K562	blood:	n/a	n/a
32	CTCF	chr17:16654680-16654830	NHDF-neo	bronchial:	n/a	n/a
33	CTCF	chr17:16764640-16764790	HCM	heart:	n/a	n/a
34	CTCF	chr17:16654660-16654810	BJ	skin:	n/a	n/a
35	CTCF	chr17:16722200-16722350	AG09309	skin:	n/a	n/a
36	CTCF	chr17:16749065-16749102	LNCaP	prostate:	n/a	n/a
37	CTCF	chr17:16733624-16733833	Pancreas_OC	pancreas:	n/a	n/a
38	CTCF	chr17:16693540-16693690	Caco-2	colon:	n/a	n/a
39	CTCF	chr17:16722231-16722357	NHEK	skin:	n/a	n/a
40	CTCF	chr17:16655120-16655270	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr17:16753766-16753829	GM13977	blood:	n/a	n/a
42	CTCF	chr17:16735283-16735344	GM10248	blood:	n/a	n/a
43	CTCF	chr17:16655100-16655250	SAEC	small airway:	n/a	n/a
44	CTCF	chr17:16654680-16654830	NHEK	skin:	n/a	n/a
45	CTCF	chr17:16660401-16660496	GM10248	blood:	n/a	n/a
46	CTCF	chr17:16655100-16655250	GM12875	blood:	n/a	n/a
47	CTCF	chr17:16752505-16752565	GM12892	blood:	n/a	n/a
48	CTCF	chr17:16654680-16654830	GM12865	blood:	n/a	n/a
49	CTCF	chr17:16654660-16654810	HAc	cerebellar:	n/a	n/a
50	CTCF	chr17:16654720-16654870	NHDF-neo	bronchial:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16736463-16736513	SK-N-SH	brain:	n/a
2	chr17:16690173-16690223	PFSK-1	brain:	n/a
3	chr17:16737096-16737146	AoSMC	blood vessel:	n/a
4	chr17:16610318-16610368	SK-N-SH	brain:	n/a
5	chr17:16757305-16757355	MCF10A-Er-Src	breast:	n/a
6	chr17:16688816-16688866	SAEC	small airway:	n/a
7	chr17:16688816-16688866	SK-N-MC	brain:	n/a
8	chr17:16690169-16690219	AG04450	lung:	fetal
9	chr17:16649246-16649296	SK-N-MC	brain:	n/a
10	chr17:16610318-16610368	BJ	skin:	n/a
11	chr17:16757356-16757406	AG10803	skin:	n/a
12	chr17:16688816-16688866	GM12878	blood:	n/a
13	chr17:16734819-16734869	Hela-S3	cervix:	n/a
14	chr17:16610132-16610182	HPAEpiC	pulmonary alveolar:	n/a
15	chr17:16690169-16690219	H1-hESC	embryonic stem cell:	embryo
16	chr17:16757356-16757406	HCT-116	colon:	n/a
17	chr17:16757305-16757355	AG10803	skin:	n/a
18	chr17:16610132-16610182	SAEC	small airway:	n/a
19	chr17:16693633-16693683	HEK293	kidney:	embryo
20	chr17:16757356-16757406	NHBE	bronchial:	n/a
21	chr17:16734819-16734869	Hepatocyte	liver:	n/a
22	chr17:16734819-16734869	AG09309	skin:	n/a
23	chr17:16690169-16690219	MCF10A-Er-Src	breast:	n/a
24	chr17:16610132-16610182	HCT-116	colon:	n/a
25	chr17:16693633-16693683	Hepatocyte	liver:	n/a
26	chr17:16690173-16690223	GM06990	blood:	n/a
27	chr17:16757356-16757406	GM12892	blood:	n/a
28	chr17:16757356-16757406	AoSMC	blood vessel:	n/a
29	chr17:16737096-16737146	ovcar-3	ovarian:	n/a
30	chr17:16688816-16688866	HRCEpiC	kidney:	n/a
31	chr17:16649246-16649296	AG04449	skin:	fetal
32	chr17:16736463-16736513	NHDF-neo	bronchial:	n/a
33	chr17:16610318-16610368	Caco-2	colon:	n/a
34	chr17:16737096-16737146	SK-N-SH_RA	brain:	n/a
35	chr17:16688816-16688866	HCF	heart:	n/a
36	chr17:16757305-16757355	PFSK-1	brain:	n/a
37	chr17:16736463-16736513	HRPEpiC	eye:	n/a
38	chr17:16737096-16737146	PFSK-1	brain:	n/a
39	chr17:16690173-16690223	NHBE	bronchial:	n/a
40	chr17:16614065-16614115	Hela-S3	cervix:	n/a
41	chr17:16610318-16610368	H1-hESC	embryonic stem cell:	embryo
42	chr17:16649246-16649296	ProgFib	skin:	n/a
43	chr17:16688816-16688866	BJ	skin:	n/a
44	chr17:16734819-16734869	AoSMC	blood vessel:	n/a
45	chr17:16610132-16610182	A549	lung:	n/a
46	chr17:16690173-16690223	MCF10A-Er-Src	breast:	n/a
47	chr17:16736463-16736513	U87	brain:	n/a
48	chr17:16614065-16614115	BJ	skin:	n/a
49	chr17:16693633-16693683	AG09309	skin:	n/a
50	chr17:16690173-16690223	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:16756059..16758999-chr17:16760586..16763495,2	K562	blood:
2	chr17:16721818..16722353-chr17:16776583..16777108,2	MCF-7	breast:

(count:15 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144A-4	chr17:16735634-16735881	NONHSAT146016
2	lnc-AC104024.2.1-3	chr17:16692215-16692721	NONHSAT146007
3	lnc-AC104024.2.1-4	chr17:16630374-16630453	NONHSAT145996
4	lnc-KRT17P1-2	chr17:16750949-16751252	NONHSAT146019
5	lnc-KRT17P1-1	chr17:16691922-16692548	ENSG00000264673.1
6	lnc-KRT17P1-2	chr17:16751411-16751727	NONHSAT146019
7	lnc-AC104024.2.1-4	chr17:16630841-16631209	NONHSAT145996
8	lnc-TRPV2-7	chr17:16613373-16613673	NONHSAT145995
9	lnc-AC104024.2.1-3	chr17:16692057-16693815	NONHSAT146006
10	lnc-AC104024.2.1-4	chr17:16623831-16623972	NONHSAT145996
11	lnc-CCDC144A-1	chr17:16707941-16707992	ENSG00000264729.1
12	lnc-TRPV2-6	chr17:16612110-16612773	NONHSAT145994
13	lnc-CCDC144A-1	chr17:16708772-16709021	ENSG00000264729.1
14	lnc-CCDC144A-4	chr17:16734662-16734742	NONHSAT146016
15	lnc-KRT17P1-1	chr17:16691562-16691620	ENSG00000264673.1

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LOC162632	hsa-miR-26b-5p	chr17:16707023-16707045
2	CCDC144A	hsa-miR-26b-5p	chr17:16677653-16677674

Variant related genes	Relation type
UPF3AP1	TF binding region
ENSG00000264673	TF binding region
COTL1P1	TF binding region
CCDC144A	TF binding region
USP32P1	TF binding region
ENSG00000272815	TF binding region
SRP68P1	TF binding region
ENSG00000264729	TF binding region
ENSG00000205312	TF binding region
ENSG00000226145	TF binding region
RN7SL620P	TF binding region
KRT16P2	TF binding region
FAM106CP	TF binding region
ENSG00000264892	TF binding region
KRT17P1	TF binding region
UPF3AP1	CpG island
ENSG00000264673	CpG island
COTL1P1	CpG island
CCDC144A	CpG island
USP32P1	CpG island
ENSG00000272815	CpG island
SRP68P1	CpG island
ENSG00000264729	CpG island
ENSG00000205312	CpG island
ENSG00000226145	CpG island
RN7SL620P	CpG island
KRT16P2	CpG island
FAM106CP	CpG island
ENSG00000264892	CpG island
KRT17P1	CpG island
ENSG00000229749	chromatin interactions
ENSG00000205312	chromatin interactions

Extended variants
information (count: 3155 )
Associated
traits (count: 161 )

Variant overlapped rSNPs/rCNVs (count:3155 , 50 per page) page: 1 2 3 4 5 6 7 ... 64

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528868713	chr17:16610132-16610133	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
2	rs542304631	chr17:16610133-16610134	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
3	rs562580522	chr17:16610172-16610173	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
4	rs531339953	chr17:16610175-16610176	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
5	rs375706158	chr17:16610318-16610319	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
6	rs2621615	chr17:16610319-16610320	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
7	rs2621614	chr17:16610362-16610363	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
8	rs201792224	chr17:16612114-16612115	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs376080025	chr17:16612119-16612120	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368503677	chr17:16612133-16612134	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs549811268	chr17:16612145-16612146	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs371860754	chr17:16612146-16612147	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs562861000	chr17:16612159-16612160	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs376203443	chr17:16612162-16612163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs551409918	chr17:16612164-16612165	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs200353361	chr17:16612182-16612183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs201297434	chr17:16612183-16612184	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs9904955	chr17:16612238-16612239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs376339930	chr17:16612251-16612252	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs369859661	chr17:16612331-16612332	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs373055547	chr17:16612350-16612351	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs201473559	chr17:16612405-16612406	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs377307125	chr17:16612412-16612413	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs547557678	chr17:16612439-16612440	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs200444506	chr17:16612452-16612453	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs536906845	chr17:16612458-16612459	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs556567827	chr17:16612461-16612462	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs570372849	chr17:16612473-16612474	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs375253790	chr17:16612497-16612498	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs59471143	chr17:16612546-16612547	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs538614545	chr17:16612585-16612586	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs558622135	chr17:16612628-16612629	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs377459013	chr17:16612670-16612671	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs546377720	chr17:16612737-16612738	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs541151679	chr17:16612742-16612743	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
36	rs192192037	chr17:16612770-16612771	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs564960312	chr17:16613022-16613023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs527732682	chr17:16613100-16613101	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs143021188	chr17:16613103-16613104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs567785366	chr17:16613153-16613154	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs530227813	chr17:16613155-16613156	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs550376205	chr17:16613173-16613174	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs570238801	chr17:16613199-16613200	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs183518434	chr17:16613203-16613204	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565683411	chr17:16613399-16613400	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
46	rs534667451	chr17:16613408-16613409	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
47	rs554361346	chr17:16613410-16613411	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
48	rs369258391	chr17:16613434-16613435	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
49	rs574524375	chr17:16613456-16613457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
50	rs543233075	chr17:16613457-16613458	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:161)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Multiple myeloma	17550852	CNVD

Chromatin state (count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16624000-16624200	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr17:16624000-16624400	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr17:16624000-16624400	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr17:16624000-16624600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr17:16624400-16625600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr17:16625800-16626000	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr17:16645000-16645200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:16648200-16648400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
9	chr17:16648800-16649600	Active TSS	iPS-15b Cell Line	embryonic stem cell
10	chr17:16649000-16649400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
11	chr17:16649000-16649400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr17:16649000-16649400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr17:16649000-16649400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:16649000-16649600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr17:16649000-16649600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr17:16649000-16649600	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr17:16649000-16649800	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr17:16649000-16650000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr17:16649000-16650000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
20	chr17:16649200-16649400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr17:16649200-16649400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:16649200-16649400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:16649200-16649400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr17:16649200-16649400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:16649200-16649400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
26	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:16649200-16649400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr17:16649200-16649400	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
29	chr17:16649200-16649400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr17:16649200-16649400	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
31	chr17:16649200-16649400	Bivalent Enhancer	Fetal Kidney	kidney
32	chr17:16649200-16649400	Bivalent Enhancer	Fetal Lung	lung
33	chr17:16649200-16649400	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr17:16649200-16649400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
35	chr17:16649200-16649400	Bivalent Enhancer	HSMM	muscle
36	chr17:16649200-16649600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr17:16649200-16649600	Active TSS	Brain Anterior Caudate	brain
38	chr17:16649200-16649600	Active TSS	Brain Cingulate Gyrus	brain
39	chr17:16649200-16649800	Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr17:16649400-16649600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr17:16649400-16649600	Bivalent/Poised TSS	Fetal Brain Female	brain
42	chr17:16649400-16650000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr17:16650000-16650200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr17:16652200-16653400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:16652400-16652600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr17:16653200-16653600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr17:16653200-16654600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:16653400-16654200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:16653600-16654000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr17:16654000-16655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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