Variant report

Variant	nsv574530
Chromosome Location	chr17:18346124-18427089
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:450)
CpG islands
(count:427)
Chromatin interactive
region (count:0)
LncRNA
region (count:31)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:450 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:18362390-18362672	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr17:18355389-18355575	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr17:18396335-18396562	GM12878	blood:	n/a	chr17:18396479-18396490
4	BATF	chr17:18379801-18380128	GM12878	blood:	n/a	n/a
5	BATF	chr17:18379787-18380078	GM12878	blood:	n/a	n/a
6	BATF	chr17:18411051-18411300	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
7	BATF	chr17:18396259-18396664	GM12878	blood:	n/a	chr17:18396479-18396490
8	BATF	chr17:18410950-18411370	GM12878	blood:	n/a	chr17:18411156-18411166 chr17:18411155-18411166
9	BCL11A	chr17:18378052-18378384	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:18379766-18380162	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:18424410-18424651	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:18379825-18380074	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:18424672-18424862	GM12878	blood:	n/a	n/a
14	BHLHE40	chr17:18396537-18396565	K562	blood:	n/a	n/a
15	CEBPB	chr17:18362210-18362602	Hela-S3	cervix:	n/a	chr17:18362363-18362376
16	CEBPB	chr17:18362356-18362662	IMR90	lung:	n/a	chr17:18362363-18362376
17	CTCF	chr17:18403773-18403875	Pancreas_OC	pancreas:	n/a	n/a
18	CTCF	chr17:18381203-18381309	MCF-7	breast:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
19	CTCF	chr17:18400360-18400510	HRE	kidney:	n/a	n/a
20	CTCF	chr17:18381253-18381295	Gliobla	brain:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
21	CTCF	chr17:18346928-18346958	Spleen_OC	spleen:	n/a	n/a
22	CTCF	chr17:18400478-18400663	GM19240	blood:	n/a	n/a
23	CTCF	chr17:18381209-18381304	MCF-7	breast:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
24	CTCF	chr17:18403698-18403880	MCF-7	breast:	n/a	n/a
25	CTCF	chr17:18396717-18396760	GM19239	blood:	n/a	n/a
26	CTCF	chr17:18375137-18375199	Medullo	brain:	n/a	n/a
27	CTCF	chr17:18400313-18400844	A549	lung:	n/a	n/a
28	CTCF	chr17:18355394-18355409	MCF-7	breast:	n/a	n/a
29	CTCF	chr17:18403626-18403896	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr17:18406043-18406133	GM13976	blood:	n/a	n/a
31	CTCF	chr17:18400360-18400510	HEK293	kidney:	n/a	n/a
32	CTCF	chr17:18400504-18400672	GM10266	blood:	n/a	n/a
33	CTCF	chr17:18403800-18403950	GM12865	blood:	n/a	n/a
34	CTCF	chr17:18400380-18400530	GM06990	blood:	n/a	n/a
35	CTCF	chr17:18355380-18355530	SAEC	small airway:	n/a	chr17:18355490-18355499
36	CTCF	chr17:18400380-18400670	GM12875	blood:	n/a	n/a
37	CTCF	chr17:18400493-18400677	GM13977	blood:	n/a	n/a
38	CTCF	chr17:18349172-18349209	LNCaP	prostate:	n/a	n/a
39	CTCF	chr17:18394290-18394630	K562	blood:	n/a	chr17:18394491-18394500 chr17:18394515-18394528 chr17:18394513-18394531 chr17:18394519-18394528
40	CTCF	chr17:18400491-18400693	Lung_OC	lung:	n/a	n/a
41	CTCF	chr17:18403736-18403897	K562	blood:	n/a	n/a
42	CTCF	chr17:18400386-18400697	A549	lung:	n/a	n/a
43	CTCF	chr17:18355400-18355550	SAEC	small airway:	n/a	chr17:18355490-18355499
44	CTCF	chr17:18403707-18403887	GM19240	blood:	n/a	n/a
45	CTCF	chr17:18381223-18381304	A549	lung:	n/a	chr17:18381256-18381277 chr17:18381261-18381279 chr17:18381264-18381274 chr17:18381262-18381278
46	CTCF	chr17:18403556-18404144	A549	lung:	n/a	n/a
47	CTCF	chr17:18391465-18391508	GM13977	blood:	n/a	n/a
48	CTCF	chr17:18400380-18400530	AG09319	gingival:	n/a	n/a
49	CTCF	chr17:18403701-18403897	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:18348546-18348582	LNCaP	prostate:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:18380159-18380209	GM06990	blood:	n/a
2	chr17:18378879-18378929	HL-60	blood:	n/a
3	chr17:18421335-18421385	HAEpiC	amniotic membrane:	n/a
4	chr17:18379129-18379179	MCF-7	breast:	n/a
5	chr17:18397849-18397899	GM19239	blood:	n/a
6	chr17:18397849-18397899	GM06990	blood:	n/a
7	chr17:18378879-18378929	NH-A	brain:	n/a
8	chr17:18380354-18380404	H1-hESC	embryonic stem cell:	embryo
9	chr17:18421335-18421385	HUVEC	blood vessel:	n/a
10	chr17:18421335-18421385	SKMC	muscle:	n/a
11	chr17:18379129-18379179	ProgFib	skin:	n/a
12	chr17:18397849-18397899	HCF	heart:	n/a
13	chr17:18378879-18378929	Caco-2	colon:	n/a
14	chr17:18379129-18379179	NB4	blood:	n/a
15	chr17:18380159-18380209	PANC-1	pancreas:	n/a
16	chr17:18397849-18397899	HMEC	breast:	n/a
17	chr17:18380354-18380404	AG09319	gingival:	n/a
18	chr17:18378879-18378929	ECC-1	luminal epithelium:	n/a
19	chr17:18380354-18380404	GM12892	blood:	n/a
20	chr17:18380354-18380404	T-47D	breast:	n/a
21	chr17:18380159-18380209	SAEC	small airway:	n/a
22	chr17:18379129-18379179	PANC-1	pancreas:	n/a
23	chr17:18380159-18380209	GM12878	blood:	n/a
24	chr17:18397849-18397899	Hela-S3	cervix:	n/a
25	chr17:18380354-18380404	SAEC	small airway:	n/a
26	chr17:18421335-18421385	MCF-7	breast:	n/a
27	chr17:18380159-18380209	AoSMC	blood vessel:	n/a
28	chr17:18378879-18378929	PANC-1	pancreas:	n/a
29	chr17:18378879-18378929	HRE	kidney:	n/a
30	chr17:18397849-18397899	AG09319	gingival:	n/a
31	chr17:18380354-18380404	LNCaP	prostate:	n/a
32	chr17:18380159-18380209	NT2-D1	testis:	n/a
33	chr17:18421335-18421385	PrEC	prostate:	n/a
34	chr17:18378879-18378929	LNCaP	prostate:	n/a
35	chr17:18380159-18380209	SK-N-SH	brain:	n/a
36	chr17:18378879-18378929	K562	blood:	n/a
37	chr17:18421335-18421385	HEEpiC	esophagus:	n/a
38	chr17:18419896-18419946	Hela-S3	cervix:	n/a
39	chr17:18419896-18419946	HRPEpiC	eye:	n/a
40	chr17:18379129-18379179	IMR90	lung:	fetal
41	chr17:18419896-18419946	AG09319	gingival:	n/a
42	chr17:18378879-18378929	HCPEpiC	choroid plexus:	n/a
43	chr17:18380354-18380404	HAEpiC	amniotic membrane:	n/a
44	chr17:18419896-18419946	ovcar-3	ovarian:	n/a
45	chr17:18421335-18421385	SK-N-MC	brain:	n/a
46	chr17:18419896-18419946	NHBE	bronchial:	n/a
47	chr17:18397849-18397899	HEK293	kidney:	embryo
48	chr17:18419896-18419946	AG04449	skin:	fetal
49	chr17:18379129-18379179	GM12892	blood:	n/a
50	chr17:18419896-18419946	AG09309	skin:	n/a

No data

(count:31 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL353997.5.1-6	chr17:18395939-18396053	NONHSAT146378
2	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
3	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
4	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
5	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146381
6	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
7	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
8	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
9	lnc-AL353997.5.1-5	chr17:18387189-18387649	NONHSAT146376
10	lnc-FAM106A-2	chr17:18420725-18420787	ENSG00000273018.1
11	lnc-FAM106A-2	chr17:18422958-18422988	ENSG00000273018.1
12	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
13	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
14	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
15	lnc-FAM106A-2	chr17:18420633-18420787	NONHSAT146382
16	lnc-AL353997.5.1-6	chr17:18395483-18395859	NONHSAT146378
17	lnc-FAM106A-2	chr17:18424393-18424459	ENSG00000273018.1
18	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
19	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
20	lnc-FAM106A-2	chr17:18426965-18427191	ENSG00000273018.1
21	lnc-AL353997.5.1-5	chr17:18380114-18380207	NONHSAT146376
22	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
23	lnc-FAM106A-2	chr17:18420604-18420787	NONHSAT146381
24	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
25	lnc-FAM106A-2	chr17:18426379-18426609	NONHSAT146382
26	lnc-FAM106A-2	chr17:18422796-18422988	NONHSAT146382
27	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
28	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1
29	lnc-FAM106A-2	chr17:18422796-18422988	ENSG00000273018.1
30	lnc-FAM106A-2	chr17:18420604-18420787	ENSG00000273018.1
31	lnc-FAM106A-2	chr17:18420696-18420787	ENSG00000273018.1

No data

Variant related genes	Relation type
USP32P2	TF binding region
ENSG00000267492	TF binding region
SRP68P2	TF binding region
NOS2P2	TF binding region
KRT16P4	TF binding region
LGALS9C	TF binding region
ENSG00000227919	TF binding region
TNPO1P2	TF binding region
USP32P2	CpG island
ENSG00000267492	CpG island
SRP68P2	CpG island
NOS2P2	CpG island
KRT16P4	CpG island
LGALS9C	CpG island
ENSG00000227919	CpG island
TNPO1P2	CpG island

Extended variants
information (count: 1977 )
Associated
traits (count: 168 )

Variant overlapped rSNPs/rCNVs (count:1977 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs137986802	chr17:18348783-18348784	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs7502095	chr17:18348784-18348785	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs7502135	chr17:18348785-18348786	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs530404477	chr17:18349184-18349185	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs113368058	chr17:18349190-18349191	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs11871368	chr17:18350706-18350707	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs558560101	chr17:18351009-18351010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2608264	chr17:18351027-18351028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568233882	chr17:18351041-18351042	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537250614	chr17:18351054-18351055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201987007	chr17:18351071-18351072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs598914	chr17:18351076-18351077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs8074322	chr17:18351089-18351090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs112967098	chr17:18351098-18351099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs2608265	chr17:18351115-18351116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs111670501	chr17:18351122-18351123	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs78537840	chr17:18351259-18351260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377303260	chr17:18351271-18351272	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs2925937	chr17:18351272-18351273	Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
20	rs539405208	chr17:18351278-18351279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552987544	chr17:18351297-18351298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572777892	chr17:18351308-18351309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535531763	chr17:18351311-18351312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555213046	chr17:18351312-18351313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1673766	chr17:18351385-18351386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1673767	chr17:18351401-18351402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1673768	chr17:18351421-18351422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543613999	chr17:18351461-18351462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372458003	chr17:18351490-18351491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs1673769	chr17:18351505-18351506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4924754	chr17:18351592-18351593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs62076280	chr17:18351690-18351691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563613429	chr17:18351725-18351726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs612291	chr17:18351774-18351775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577137539	chr17:18351808-18351809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546125070	chr17:18351811-18351812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559680029	chr17:18351819-18351820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528513633	chr17:18351943-18351944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs548621141	chr17:18351961-18351962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs191978158	chr17:18352013-18352014	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs562042819	chr17:18352091-18352092	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs16963422	chr17:18352095-18352096	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs530694369	chr17:18352096-18352097	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
44	rs550809328	chr17:18352115-18352116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144557932	chr17:18352141-18352142	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
46	rs376999519	chr17:18352173-18352174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs75381923	chr17:18352187-18352188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs369183390	chr17:18352229-18352230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539721825	chr17:18352248-18352249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62076282	chr17:18352316-18352317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:168)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Tetralogy of Fallot	22912587	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:18351000-18351400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr17:18351200-18351400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr17:18351200-18351400	Enhancers	NHEK	skin
4	chr17:18351400-18352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:18351400-18353000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr17:18351400-18355400	Weak transcription	NHEK	skin
7	chr17:18352800-18353400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr17:18353000-18353200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr17:18353200-18353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr17:18353400-18353600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:18353600-18354400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr17:18353600-18354600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr17:18354400-18354600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr17:18354600-18355400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr17:18355400-18355600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:18355400-18355800	Enhancers	NHEK	skin
19	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr17:18355600-18355800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr17:18361000-18362400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:18361600-18361800	Enhancers	Hela-S3	cervix
23	chr17:18361600-18362000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:18362000-18362400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr17:18362200-18362600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr17:18362200-18362600	Active TSS	A549	lung
27	chr17:18362200-18362800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr17:18362400-18362600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr17:18362400-18362600	Bivalent Enhancer	Fetal Lung	lung
30	chr17:18362400-18362600	Active TSS	Hela-S3	cervix
31	chr17:18362400-18362800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:18362400-18362800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr17:18362400-18362800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr17:18362400-18362800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr17:18362400-18362800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:18362400-18363400	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr17:18362600-18362800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:18362600-18362800	Enhancers	Muscle Satellite Cultured Cells	--
39	chr17:18362600-18362800	Flanking Active TSS	Hela-S3	cervix
40	chr17:18362600-18362800	Enhancers	Osteobl	bone
41	chr17:18362600-18372000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr17:18367200-18367400	Enhancers	Fetal Intestine Large	intestine
43	chr17:18370000-18380000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr17:18370400-18370600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr17:18370600-18371000	Enhancers	Esophagus	oesophagus
46	chr17:18371000-18372000	Weak transcription	Esophagus	oesophagus
47	chr17:18372000-18372200	Enhancers	Esophagus	oesophagus
48	chr17:18372000-18372200	Enhancers	NHEK	skin
49	chr17:18372000-18372400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:18372200-18375200	Weak transcription	Esophagus	oesophagus

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