Variant report

Variant	nsv9498
Chromosome Location	chr17:16716331-16777806
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	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	BHLHE40	chr17:16776637-16776774	A549	lung:	n/a	n/a
4	BRCA1	chr17:16776669-16776811	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr17:16764549-16764560	Hela-S3	cervix:	n/a	n/a
6	CEBPB	chr17:16763881-16764076	A549	lung:	n/a	chr17:16764008-16764019
7	CEBPB	chr17:16771631-16771906	A549	lung:	n/a	chr17:16771790-16771801
8	CEBPB	chr17:16771713-16771889	HepG2	liver:	n/a	chr17:16771790-16771801
9	CEBPB	chr17:16773866-16773956	A549	lung:	n/a	n/a
10	CEBPB	chr17:16764555-16764730	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr17:16764004-16764108	HepG2	liver:	n/a	chr17:16764008-16764019
12	CEBPB	chr17:16768234-16768445	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr17:16763876-16764183	Hela-S3	cervix:	n/a	chr17:16764008-16764019
14	CHD2	chr17:16764544-16764744	Hela-S3	cervix:	n/a	n/a
15	CTCF	chr17:16740288-16740357	GM10248	blood:	n/a	n/a
16	CTCF	chr17:16776620-16776770	GM12875	blood:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
17	CTCF	chr17:16776629-16776777	Medullo	brain:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
18	CTCF	chr17:16776640-16776790	GM12872	blood:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
19	CTCF	chr17:16733563-16733841	GM10248	blood:	n/a	n/a
20	CTCF	chr17:16769260-16769410	MCF-7	breast:	n/a	chr17:16769264-16769282
21	CTCF	chr17:16735283-16735344	GM10248	blood:	n/a	n/a
22	CTCF	chr17:16776560-16776710	GM12868	blood:	n/a	n/a
23	CTCF	chr17:16722260-16722410	HCFaa	heart:	n/a	n/a
24	CTCF	chr17:16769128-16769382	HepG2	liver:	n/a	chr17:16769264-16769282
25	CTCF	chr17:16776600-16776750	GM12878	blood:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
26	CTCF	chr17:16776620-16776770	GM12871	blood:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
27	CTCF	chr17:16732229-16732250	LNCaP	prostate:	n/a	n/a
28	CTCF	chr17:16769320-16769470	AG10803	skin:	n/a	n/a
29	CTCF	chr17:16719200-16719350	HEEpiC	esophagus:	n/a	n/a
30	CTCF	chr17:16733677-16733842	MCF-7	breast:	n/a	n/a
31	CTCF	chr17:16733694-16733825	GM19240	blood:	n/a	n/a
32	CTCF	chr17:16764600-16764750	HCT-116	colon:	n/a	n/a
33	CTCF	chr17:16764640-16764790	AG09309	skin:	n/a	n/a
34	CTCF	chr17:16764620-16764770	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr17:16769360-16769510	A549	lung:	n/a	n/a
36	CTCF	chr17:16764570-16764841	NHEK	skin:	n/a	n/a
37	CTCF	chr17:16733760-16733910	SAEC	small airway:	n/a	n/a
38	CTCF	chr17:16776660-16776810	AG09309	skin:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
39	CTCF	chr17:16769160-16769331	GM19238	blood:	n/a	chr17:16769264-16769282
40	CTCF	chr17:16733676-16733830	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:16776800-16776950	WI-38	lung:	n/a	n/a
42	CTCF	chr17:16719334-16719455	Pancreas_OC	pancreas:	n/a	n/a
43	CTCF	chr17:16749302-16749401	Kidney_OC	kidney:	n/a	n/a
44	CTCF	chr17:16764620-16764820	HCT-116	colon:	n/a	n/a
45	CTCF	chr17:16764640-16764790	RPTEC	kidney:	n/a	n/a
46	CTCF	chr17:16776640-16776790	AG09309	skin:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
47	CTCF	chr17:16776600-16776750	WI-38	lung:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720
48	CTCF	chr17:16776500-16776650	AG04450	lung:	n/a	n/a
49	CTCF	chr17:16740285-16740372	Spleen_OC	spleen:	n/a	n/a
50	CTCF	chr17:16776640-16776790	HVMF	connective:	n/a	chr17:16776707-16776720 chr17:16776706-16776722 chr17:16776705-16776723 chr17:16776700-16776721 chr17:16776712-16776720 chr17:16776707-16776720

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:16757305-16757355	GM06990	blood:	n/a
2	chr17:16736463-16736513	HRE	kidney:	n/a
3	chr17:16757305-16757355	AG09319	gingival:	n/a
4	chr17:16734819-16734869	PANC-1	pancreas:	n/a
5	chr17:16757356-16757406	HRE	kidney:	n/a
6	chr17:16757356-16757406	AG09319	gingival:	n/a
7	chr17:16757356-16757406	RPTEC	kidney:	n/a
8	chr17:16734819-16734869	HMEC	breast:	n/a
9	chr17:16757305-16757355	RPTEC	kidney:	n/a
10	chr17:16736463-16736513	SK-N-MC	brain:	n/a
11	chr17:16734819-16734869	HRPEpiC	eye:	n/a
12	chr17:16757305-16757355	AG04449	skin:	fetal
13	chr17:16737096-16737146	AG04450	lung:	fetal
14	chr17:16737096-16737146	HMEC	breast:	n/a
15	chr17:16757305-16757355	AG10803	skin:	n/a
16	chr17:16757356-16757406	HEK293	kidney:	embryo
17	chr17:16757356-16757406	Hela-S3	cervix:	n/a
18	chr17:16736463-16736513	GM12891	blood:	n/a
19	chr17:16757356-16757406	Caco-2	colon:	n/a
20	chr17:16737096-16737146	MCF-7	breast:	n/a
21	chr17:16737096-16737146	Jurkat	blood:	n/a
22	chr17:16734819-16734869	MCF10A-Er-Src	breast:	n/a
23	chr17:16757305-16757355	T-47D	breast:	n/a
24	chr17:16734819-16734869	IMR90	lung:	fetal
25	chr17:16757356-16757406	NHBE	bronchial:	n/a
26	chr17:16737096-16737146	NT2-D1	testis:	n/a
27	chr17:16734819-16734869	HCT-116	colon:	n/a
28	chr17:16736463-16736513	BJ	skin:	n/a
29	chr17:16734819-16734869	Caco-2	colon:	n/a
30	chr17:16734819-16734869	AG10803	skin:	n/a
31	chr17:16736463-16736513	HEEpiC	esophagus:	n/a
32	chr17:16736463-16736513	PrEC	prostate:	n/a
33	chr17:16737096-16737146	HEK293	kidney:	embryo
34	chr17:16734819-16734869	CMK	blood:	n/a
35	chr17:16757305-16757355	NH-A	brain:	n/a
36	chr17:16736463-16736513	PANC-1	pancreas:	n/a
37	chr17:16736463-16736513	HRPEpiC	eye:	n/a
38	chr17:16734819-16734869	RPTEC	kidney:	n/a
39	chr17:16734819-16734869	MCF-7	breast:	n/a
40	chr17:16757356-16757406	SK-N-SH_RA	brain:	n/a
41	chr17:16757356-16757406	NT2-D1	testis:	n/a
42	chr17:16736463-16736513	Caco-2	colon:	n/a
43	chr17:16757305-16757355	Hepatocyte	liver:	n/a
44	chr17:16737096-16737146	HCF	heart:	n/a
45	chr17:16734819-16734869	HRCEpiC	kidney:	n/a
46	chr17:16757305-16757355	AG04450	lung:	fetal
47	chr17:16757305-16757355	Hela-S3	cervix:	n/a
48	chr17:16734819-16734869	ECC-1	luminal epithelium:	n/a
49	chr17:16737096-16737146	HL-60	blood:	n/a
50	chr17:16757356-16757406	MCF-7	breast:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144A-4	chr17:16735634-16735881	NONHSAT146016
2	lnc-CCDC144A-4	chr17:16734662-16734742	NONHSAT146016
3	lnc-KRT17P1-2	chr17:16751411-16751727	NONHSAT146019
4	lnc-KRT17P1-2	chr17:16750949-16751252	NONHSAT146019

Variant related genes	Relation type
ENSG00000205312	TF binding region
ENSG00000226145	TF binding region
KRT16P2	TF binding region
COTL1P1	TF binding region
KRT17P1	TF binding region
ENSG00000205312	CpG island
ENSG00000226145	CpG island
KRT16P2	CpG island
COTL1P1	CpG island
KRT17P1	CpG island
ENSG00000205312	chromatin interactions
ENSG00000229749	chromatin interactions

Extended variants
information (count: 2141 )
Associated
traits (count: 160 )

Variant overlapped rSNPs/rCNVs (count:2141 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534259771	chr17:16716637-16716638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs28559724	chr17:16716682-16716683	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs574222082	chr17:16716689-16716690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543199103	chr17:16716719-16716720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs682741	chr17:16716738-16716739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs550839919	chr17:16716785-16716786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs189714118	chr17:16716828-16716829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545387815	chr17:16716842-16716843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536445384	chr17:16716859-16716860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564507070	chr17:16716867-16716868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs2688031	chr17:16716871-16716872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs149928900	chr17:16716880-16716881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs547017301	chr17:16716957-16716958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143988036	chr17:16716963-16716964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs529789428	chr17:16716982-16716983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539037713	chr17:16717019-16717020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549942650	chr17:16717072-16717073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs143659241	chr17:16717134-16717135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538882833	chr17:16717186-16717187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372882669	chr17:16717208-16717209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs374937993	chr17:16717221-16717222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs140484389	chr17:16717312-16717313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs372612118	chr17:16717316-16717317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558964575	chr17:16717373-16717374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192957058	chr17:16717384-16717385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs201097653	chr17:16717387-16717388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183666047	chr17:16717401-16717402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs574076890	chr17:16717435-16717436	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369290352	chr17:16717436-16717437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs376747387	chr17:16717463-16717464	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs202141794	chr17:16717473-16717474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575693955	chr17:16717492-16717493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs73279203	chr17:16717522-16717523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs188327272	chr17:16717532-16717533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs201144843	chr17:16717587-16717588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs538565381	chr17:16717602-16717603	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs536351204	chr17:16717667-16717668	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs73978667	chr17:16717669-16717670	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs201842527	chr17:16717788-16717789	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs142998648	chr17:16717802-16717803	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs369491232	chr17:16717842-16717843	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs564009726	chr17:16717861-16717862	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs151113501	chr17:16717879-16717880	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs546682585	chr17:16717902-16717903	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545267243	chr17:16717921-16717922	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs528153774	chr17:16717945-16717946	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs181775753	chr17:16717947-16717948	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs572439084	chr17:16717952-16717953	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs540614035	chr17:16718004-16718005	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs202105208	chr17:16718025-16718026	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:160)

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
Multiple myeloma	17550852	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:345 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:16716600-16723200	Weak transcription	Right Atrium	heart
2	chr17:16717200-16720000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:16717400-16717600	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr17:16717400-16717800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:16717600-16717800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:16717600-16718000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr17:16717600-16718200	Bivalent Enhancer	Fetal Muscle Leg	muscle
8	chr17:16717600-16718200	Enhancers	Right Ventricle	heart
9	chr17:16717600-16718200	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr17:16717800-16719000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:16718000-16719000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr17:16718000-16719000	ZNF genes & repeats	Spleen	Spleen
13	chr17:16718600-16719200	Enhancers	A549	lung
14	chr17:16718600-16720600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr17:16719000-16719200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr17:16719000-16719200	Enhancers	NHEK	skin
17	chr17:16719000-16719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:16719000-16723200	Weak transcription	Spleen	Spleen
19	chr17:16719000-16724000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr17:16719200-16720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr17:16719200-16723600	Weak transcription	NHEK	skin
22	chr17:16719400-16720200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr17:16720200-16722400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:16720600-16722200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr17:16720600-16723000	Strong transcription	Placenta Amnion	Placenta Amnion
26	chr17:16720600-16723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr17:16721400-16724600	Enhancers	Adipose Nuclei	Adipose
28	chr17:16721600-16723800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr17:16721800-16722000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr17:16722000-16722600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr17:16722000-16723200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr17:16722000-16724800	Enhancers	Right Ventricle	heart
33	chr17:16722200-16723000	Bivalent Enhancer	Fetal Muscle Leg	muscle
34	chr17:16722200-16724200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:16722400-16722600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr17:16722400-16722800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr17:16722400-16722800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr17:16722400-16723400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr17:16722600-16723200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr17:16722600-16724400	Enhancers	Rectal Smooth Muscle	rectum
41	chr17:16722600-16724600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr17:16722600-16724800	Enhancers	Left Ventricle	heart
43	chr17:16722800-16723400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr17:16722800-16723800	Enhancers	HMEC	breast
45	chr17:16722800-16724000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr17:16722800-16725200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr17:16722800-16725200	Enhancers	Esophagus	oesophagus
48	chr17:16723000-16723600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr17:16723000-16724800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr17:16723000-16724800	Enhancers	Fetal Heart	heart

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