Variant report

Variant	esv3373438
Chromosome Location	chr17:18285177-18295675
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:50)
CpG islands
(count:549)
Chromatin interactive
region (count:4)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr17:18286586-18286682	Spleen_OC	spleen:	n/a	n/a
2	CTCF	chr17:18292342-18292396	GM12878	blood:	n/a	n/a
3	CTCF	chr17:18286260-18286410	HMEC	breast:	n/a	n/a
4	CTCF	chr17:18292185-18292311	GM12891	blood:	n/a	n/a
5	CTCF	chr17:18292246-18292302	GM19238	blood:	n/a	n/a
6	CTCF	chr17:18286617-18286690	GM12878	blood:	n/a	n/a
7	CTCF	chr17:18292241-18292244	GM19238	blood:	n/a	n/a
8	CTCF	chr17:18286364-18286421	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr17:18286390-18286454	GM12878	blood:	n/a	n/a
10	CTCF	chr17:18286554-18286729	GM12891	blood:	n/a	n/a
11	CTCF	chr17:18292251-18292257	Spleen_OC	spleen:	n/a	n/a
12	CTCF	chr17:18288879-18288968	Spleen_OC	spleen:	n/a	n/a
13	CTCF	chr17:18286594-18286698	GM10248	blood:	n/a	n/a
14	CTCF	chr17:18289818-18289902	GM20000	blood:	n/a	n/a
15	CTCF	chr17:18288816-18288902	Medullo	brain:	n/a	n/a
16	CTCF	chr17:18286408-18286440	Fibrobl	skin:	n/a	n/a
17	CTCF	chr17:18286351-18286459	GM12891	blood:	n/a	n/a
18	CTCF	chr17:18294653-18294698	GM19240	blood:	n/a	n/a
19	CTCF	chr17:18288822-18288878	GM13977	blood:	n/a	n/a
20	CTCF	chr17:18286605-18286698	GM12892	blood:	n/a	n/a
21	CTCF	chr17:18294495-18294593	LNCaP	prostate:	n/a	n/a
22	CTCF	chr17:18286400-18286550	GM12864	blood:	n/a	n/a
23	CTCF	chr17:18292261-18292348	GM10266	blood:	n/a	n/a
24	CTCF	chr17:18288587-18288668	K562	blood:	n/a	n/a
25	CTCF	chr17:18289333-18289393	GM10248	blood:	n/a	n/a
26	CTCF	chr17:18289554-18289651	Hela-S3	cervix:	n/a	n/a
27	E2F6	chr17:18286291-18286783	H1-hESC	embryonic stem cell:	n/a	n/a
28	E2F6	chr17:18286289-18286765	H1-hESC	embryonic stem cell:	n/a	n/a
29	GABPA	chr17:18295096-18295237	Hela-S3	cervix:	n/a	n/a
30	MAX	chr17:18286204-18286665	ECC-1	luminal epithelium:	n/a	chr17:18286522-18286532
31	MAX	chr17:18286191-18286617	ECC-1	luminal epithelium:	n/a	chr17:18286522-18286532
32	MAX	chr17:18286303-18286852	H1-hESC	embryonic stem cell:	n/a	chr17:18286522-18286532
33	MAX	chr17:18286314-18286857	H1-hESC	embryonic stem cell:	n/a	chr17:18286522-18286532
34	MYC	chr17:18285676-18285738	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr17:18286531-18286712	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr17:18288500-18288587	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr17:18290696-18291003	GM12878	blood:	n/a	n/a
38	POLR2A	chr17:18294080-18294090	K562	blood:	n/a	n/a
39	POLR2A	chr17:18288428-18288448	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr17:18288804-18288839	GM12878	blood:	n/a	n/a
41	RCOR1	chr17:18285142-18285267	K562	blood:	n/a	n/a
42	RCOR1	chr17:18285024-18285298	K562	blood:	n/a	n/a
43	SPI1	chr17:18292126-18292292	GM12878	blood:	n/a	n/a
44	SPI1	chr17:18292005-18292411	GM12891	blood:	n/a	n/a
45	SPI1	chr17:18292011-18292340	GM12891	blood:	n/a	n/a
46	SPI1	chr17:18292104-18292321	GM12878	blood:	n/a	n/a
47	TCF12	chr17:18286575-18286739	H1-hESC	embryonic stem cell:	n/a	n/a
48	TCF3	chr17:18286429-18286795	GM12878	blood:	n/a	n/a
49	TCF3	chr17:18286556-18286707	GM12878	blood:	n/a	n/a
50	ZNF143	chr17:18285084-18285381	K562	blood:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18285838-18285888	AoSMC	blood vessel:	n/a
2	chr17:18286644-18286694	Jurkat	blood:	n/a
3	chr17:18286644-18286694	MCF-7	breast:	n/a
4	chr17:18295503-18295553	Hepatocyte	liver:	n/a
5	chr17:18291699-18291749	T-47D	breast:	n/a
6	chr17:18285810-18285860	HCPEpiC	choroid plexus:	n/a
7	chr17:18291699-18291749	IMR90	lung:	fetal
8	chr17:18295431-18295481	HUVEC	blood vessel:	n/a
9	chr17:18286412-18286462	NHBE	bronchial:	n/a
10	chr17:18287814-18287864	IMR90	lung:	fetal
11	chr17:18285810-18285860	AG09319	gingival:	n/a
12	chr17:18285838-18285888	HCM	heart:	n/a
13	chr17:18290668-18290718	HL-60	blood:	n/a
14	chr17:18286644-18286694	Hepatocyte	liver:	n/a
15	chr17:18295503-18295553	Caco-2	colon:	n/a
16	chr17:18285810-18285860	Jurkat	blood:	n/a
17	chr17:18291699-18291749	MCF10A-Er-Src	breast:	n/a
18	chr17:18295431-18295481	NHBE	bronchial:	n/a
19	chr17:18286644-18286694	PrEC	prostate:	n/a
20	chr17:18290668-18290718	ProgFib	skin:	n/a
21	chr17:18286644-18286694	SK-N-SH_RA	brain:	n/a
22	chr17:18295431-18295481	HMEC	breast:	n/a
23	chr17:18290668-18290718	HCF	heart:	n/a
24	chr17:18295503-18295553	U87	brain:	n/a
25	chr17:18290668-18290718	HRPEpiC	eye:	n/a
26	chr17:18287814-18287864	PFSK-1	brain:	n/a
27	chr17:18285810-18285860	Caco-2	colon:	n/a
28	chr17:18286644-18286694	AG09319	gingival:	n/a
29	chr17:18286412-18286462	HepG2	liver:	n/a
30	chr17:18291699-18291749	HCT-116	colon:	n/a
31	chr17:18291699-18291749	U87	brain:	n/a
32	chr17:18286644-18286694	NHBE	bronchial:	n/a
33	chr17:18295503-18295553	ovcar-3	ovarian:	n/a
34	chr17:18295431-18295481	H1-hESC	embryonic stem cell:	embryo
35	chr17:18295431-18295481	SK-N-MC	brain:	n/a
36	chr17:18287814-18287864	ProgFib	skin:	n/a
37	chr17:18287814-18287864	HEK293	kidney:	embryo
38	chr17:18286644-18286694	AG09309	skin:	n/a
39	chr17:18285838-18285888	AG04449	skin:	fetal
40	chr17:18287814-18287864	AG09319	gingival:	n/a
41	chr17:18295431-18295481	MCF10A-Er-Src	breast:	n/a
42	chr17:18295431-18295481	HNPCEpiC	eye:	n/a
43	chr17:18286644-18286694	BJ	skin:	n/a
44	chr17:18285838-18285888	NHDF-neo	bronchial:	n/a
45	chr17:18295431-18295481	GM19239	blood:	n/a
46	chr17:18286412-18286462	NHDF-neo	bronchial:	n/a
47	chr17:18286412-18286462	AG04450	lung:	fetal
48	chr17:18295503-18295553	HMEC	breast:	n/a
49	chr17:18287814-18287864	HCM	heart:	n/a
50	chr17:18286644-18286694	U87	brain:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:18271062..18274039-chr17:18283398..18285584,2	MCF-7	breast:
2	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:
3	chr17:18273227..18274953-chr17:18289917..18291736,2	K562	blood:
4	chr17:18278481..18280376-chr17:18284493..18286607,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353997.1-1	chr17:18292171-18292691	NONHSAT146194
2	lnc-AL353997.1-1	chr17:18289718-18289778	NONHSAT146194
3	lnc-AL353997.1-1	chr17:18291533-18291602	NONHSAT146194

No data

Variant related genes	Relation type
ENSG00000267441	TF binding region
EVPLL	TF binding region
TBC1D3P4	TF binding region
ENSG00000264177	TF binding region
ENSG00000267441	CpG island
EVPLL	CpG island
TBC1D3P4	CpG island
ENSG00000264177	CpG island
ENSG00000263946	chromatin interactions

Extended variants
information (count: 402 )
Associated
traits (count: 163 )

Variant overlapped rSNPs/rCNVs (count:402 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552872521	chr17:18285194-18285195	Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs531773953	chr17:18285213-18285214	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs551715940	chr17:18285238-18285239	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs190299812	chr17:18285249-18285250	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs528015130	chr17:18285282-18285283	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs547728659	chr17:18285315-18285316	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs143266598	chr17:18285326-18285327	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs536714257	chr17:18285335-18285336	Weak transcription Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs556707801	chr17:18285408-18285409	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570196584	chr17:18285431-18285432	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538802619	chr17:18285495-18285496	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558514171	chr17:18285566-18285567	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572265413	chr17:18285616-18285617	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368776774	chr17:18285617-18285618	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs8071911	chr17:18285667-18285668	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs554118632	chr17:18285672-18285673	Weak transcription Enhancers Bivalent Enhancer Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181605623	chr17:18285678-18285679	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs185727807	chr17:18285716-18285717	Weak transcription Enhancers Bivalent Enhancer Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs563024625	chr17:18285810-18285811	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs146696963	chr17:18285885-18285886	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs369250177	chr17:18285929-18285930	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371477296	chr17:18285930-18285931	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375762289	chr17:18285936-18285937	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368060432	chr17:18285944-18285945	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545573240	chr17:18285954-18285955	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs190134682	chr17:18285988-18285989	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376700277	chr17:18286013-18286014	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs182372223	chr17:18286025-18286026	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs185449321	chr17:18286026-18286027	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs561230092	chr17:18286042-18286043	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs530097704	chr17:18286055-18286056	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs550224507	chr17:18286177-18286178	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs547576458	chr17:18286203-18286204	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs58499955	chr17:18286234-18286235	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs538768248	chr17:18286242-18286243	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs191181442	chr17:18286265-18286266	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565761386	chr17:18286312-18286313	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs534887032	chr17:18286326-18286327	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs182498101	chr17:18286454-18286455	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs574420864	chr17:18286478-18286479	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs112272681	chr17:18286527-18286528	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs536647906	chr17:18286564-18286565	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs556579001	chr17:18286568-18286569	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs575186486	chr17:18286582-18286583	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200169911	chr17:18286603-18286604	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs369495077	chr17:18286624-18286625	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs565448110	chr17:18286654-18286655	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs572564882	chr17:18286735-18286736	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs372254001	chr17:18286741-18286742	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs541676494	chr17:18286744-18286745	Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:163)

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
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
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	18496225	CNVD
Autism	22543975	CNVD
Ovarian cancer	22355333	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Sezary syndrome	18413736	CNVD
Medulloblastoma	16783165	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18267200-18288200	Weak transcription	Right Atrium	heart
2	chr17:18281400-18286400	Weak transcription	Gastric	stomach
3	chr17:18283000-18288200	Enhancers	Fetal Thymus	thymus
4	chr17:18283400-18287000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:18283800-18286200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr17:18283800-18289400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr17:18284000-18286200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr17:18284200-18286000	Strong transcription	Esophagus	oesophagus
9	chr17:18284600-18285200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:18285000-18285200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:18285000-18285200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr17:18285400-18286400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr17:18285800-18286000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr17:18285800-18287000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
15	chr17:18286000-18286200	Enhancers	Thymus	Thymus
16	chr17:18286000-18286400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:18286000-18286600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr17:18286000-18286600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:18286200-18286400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr17:18286200-18286400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr17:18286200-18286400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr17:18286200-18286400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr17:18286200-18286400	Bivalent Enhancer	Right Ventricle	heart
24	chr17:18286200-18286400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr17:18286200-18286400	Bivalent Enhancer	Spleen	Spleen
26	chr17:18286200-18286600	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr17:18286200-18286600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:18286200-18286600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr17:18286200-18286600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
30	chr17:18286200-18286600	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr17:18286200-18286600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr17:18286200-18286600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr17:18286200-18286600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr17:18286200-18286600	Bivalent Enhancer	Brain Hippocampus Middle	brain
35	chr17:18286200-18286600	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr17:18286200-18286600	Flanking Active TSS	Thymus	Thymus
37	chr17:18286200-18286800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr17:18286200-18286800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr17:18286200-18287000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr17:18286400-18286600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr17:18286400-18286600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:18286400-18286600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr17:18286400-18286600	Bivalent Enhancer	Adipose Nuclei	Adipose
44	chr17:18286400-18286600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr17:18286400-18286600	Enhancers	Gastric	stomach
46	chr17:18286400-18286600	Enhancers	Right Ventricle	heart
47	chr17:18286400-18286600	Flanking Active TSS	Spleen	Spleen
48	chr17:18286400-18286800	Enhancers	Placenta	Placenta
49	chr17:18286600-18286800	Active TSS	Thymus	Thymus
50	chr17:18286600-18287400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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