Variant report

Variant	nsv833397
Chromosome Location	chr17:20245028-20433273
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:905)
CpG islands
(count:855)
Chromatin interactive
region (count:0)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:905 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr17:20388438-20388633	H1-hESC	embryonic stem cell:	n/a	n/a
2	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
3	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
4	BATF	chr17:20268484-20268863	GM12878	blood:	n/a	n/a
5	BATF	chr17:20255920-20256169	GM12878	blood:	n/a	n/a
6	BATF	chr17:20268534-20268812	GM12878	blood:	n/a	n/a
7	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
8	BATF	chr17:20248455-20248916	GM12878	blood:	n/a	n/a
9	BATF	chr17:20284594-20284865	GM12878	blood:	n/a	n/a
10	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
11	BATF	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
12	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20268605-20268835	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
19	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
20	BHLHE40	chr17:20285598-20285614	K562	blood:	n/a	n/a
21	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
22	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
23	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
24	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
25	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr17:20347050-20347179	GM12891	blood:	n/a	n/a
27	CTCF	chr17:20359410-20359533	GM19239	blood:	n/a	n/a
28	CTCF	chr17:20350300-20350450	AG10803	skin:	n/a	n/a
29	CTCF	chr17:20350300-20350450	HEK293	kidney:	n/a	n/a
30	CTCF	chr17:20350440-20350590	GM12864	blood:	n/a	n/a
31	CTCF	chr17:20285060-20285210	GM12873	blood:	n/a	n/a
32	CTCF	chr17:20284658-20284916	Medullo	brain:	n/a	n/a
33	CTCF	chr17:20350354-20350438	Medullo	brain:	n/a	n/a
34	CTCF	chr17:20411841-20412098	K562	blood:	n/a	n/a
35	CTCF	chr17:20405320-20405470	AG04449	skin:	n/a	n/a
36	CTCF	chr17:20284686-20284905	GM19238	blood:	n/a	n/a
37	CTCF	chr17:20284700-20284850	HPF	lung:	n/a	n/a
38	CTCF	chr17:20285094-20285522	MCF-7	breast:	n/a	n/a
39	CTCF	chr17:20284720-20284870	GM12875	blood:	n/a	n/a
40	CTCF	chr17:20350224-20350511	K562	blood:	n/a	n/a
41	CTCF	chr17:20350259-20350567	A549	lung:	n/a	n/a
42	CTCF	chr17:20350251-20350490	Gliobla	brain:	n/a	n/a
43	CTCF	chr17:20295057-20295236	GM13976	blood:	n/a	n/a
44	CTCF	chr17:20284720-20284870	HepG2	liver:	n/a	n/a
45	CTCF	chr17:20284700-20284850	GM12872	blood:	n/a	n/a
46	CTCF	chr17:20399902-20399910	Kidney_OC	kidney:	n/a	n/a
47	CTCF	chr17:20356538-20356604	GM10248	blood:	n/a	n/a
48	CTCF	chr17:20285356-20285489	Gliobla	brain:	n/a	n/a
49	CTCF	chr17:20350271-20350483	GM12892	blood:	n/a	n/a
50	CTCF	chr17:20350240-20350466	H1-hESC	embryonic stem cell:	n/a	n/a

(count:855 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20370597-20370647	HRE	kidney:	n/a
2	chr17:20370597-20370647	HRE	kidney:	n/a
3	chr17:20433187-20433237	NH-A	brain:	n/a
4	chr17:20339878-20339928	Hela-S3	cervix:	n/a
5	chr17:20339878-20339928	HCPEpiC	choroid plexus:	n/a
6	chr17:20339878-20339928	HepG2	liver:	n/a
7	chr17:20280153-20280203	IMR90	lung:	fetal
8	chr17:20339589-20339639	ProgFib	skin:	n/a
9	chr17:20280166-20280216	ECC-1	luminal epithelium:	n/a
10	chr17:20339878-20339928	PrEC	prostate:	n/a
11	chr17:20433187-20433237	ECC-1	luminal epithelium:	n/a
12	chr17:20409125-20409175	HL-60	blood:	n/a
13	chr17:20370597-20370647	RPTEC	kidney:	n/a
14	chr17:20280153-20280203	NB4	blood:	n/a
15	chr17:20408772-20408822	ovcar-3	ovarian:	n/a
16	chr17:20346491-20346541	HL-60	blood:	n/a
17	chr17:20408772-20408822	Caco-2	colon:	n/a
18	chr17:20409125-20409175	HIPEpiC	eye:	n/a
19	chr17:20405382-20405432	Caco-2	colon:	n/a
20	chr17:20339589-20339639	HCPEpiC	choroid plexus:	n/a
21	chr17:20408647-20408697	GM06990	blood:	n/a
22	chr17:20409125-20409175	IMR90	lung:	fetal
23	chr17:20280056-20280106	NHBE	bronchial:	n/a
24	chr17:20339589-20339639	SAEC	small airway:	n/a
25	chr17:20280166-20280216	HCM	heart:	n/a
26	chr17:20326541-20326591	PFSK-1	brain:	n/a
27	chr17:20408647-20408697	NHDF-neo	bronchial:	n/a
28	chr17:20408772-20408822	LNCaP	prostate:	n/a
29	chr17:20370597-20370647	ovcar-3	ovarian:	n/a
30	chr17:20433187-20433237	BE2_C	brain:	n/a
31	chr17:20339589-20339639	SK-N-SH_RA	brain:	n/a
32	chr17:20433187-20433237	GM19239	blood:	n/a
33	chr17:20280153-20280203	NT2-D1	testis:	n/a
34	chr17:20339878-20339928	T-47D	breast:	n/a
35	chr17:20408772-20408822	HMEC	breast:	n/a
36	chr17:20280153-20280203	HPAEpiC	pulmonary alveolar:	n/a
37	chr17:20370597-20370647	HCF	heart:	n/a
38	chr17:20339589-20339639	GM12891	blood:	n/a
39	chr17:20370597-20370647	CMK	blood:	n/a
40	chr17:20280153-20280203	HepG2	liver:	n/a
41	chr17:20405382-20405432	AoSMC	blood vessel:	n/a
42	chr17:20280056-20280106	T-47D	breast:	n/a
43	chr17:20280166-20280216	MCF10A-Er-Src	breast:	n/a
44	chr17:20408647-20408697	HCM	heart:	n/a
45	chr17:20279144-20279194	RPTEC	kidney:	n/a
46	chr17:20370597-20370647	HEEpiC	esophagus:	n/a
47	chr17:20279144-20279194	SK-N-SH_RA	brain:	n/a
48	chr17:20408772-20408822	RPTEC	kidney:	n/a
49	chr17:20405382-20405432	GM06990	blood:	n/a
50	chr17:20280166-20280216	AG04450	lung:	fetal

No data

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-1	chr17:20265497-20265680	NR_023380
2	lnc-CCDC144C-1	chr17:20254570-20254711	NR_023380
3	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
4	lnc-FAM106B-1	chr17:20320763-20321272	NONHSAT146571
5	lnc-CCDC144C-1	chr17:20294788-20295081	NR_023380
6	lnc-CCDC144C-1	chr17:20295677-20295897	NR_023380
7	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
8	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1
9	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
10	lnc-CCDC144C-1	chr17:20268399-20269343	NR_023380
11	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
12	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380
13	lnc-CCDC144C-1	chr17:20245671-20245807	NR_023380
14	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
15	lnc-FAM106B-1	chr17:20320741-20322363	NONHSAT146570
16	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
17	lnc-CCDC144C-1	chr17:20266235-20266363	NR_023380
18	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
19	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
20	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
21	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
22	lnc-CCDC144C-1	chr17:20254251-20254284	NR_023380
23	lnc-CCDC144C-1	chr17:20261192-20261409	NR_023380

No data

Variant related genes	Relation type
UPF3AP2	TF binding region
FAM106B	TF binding region
ENSG00000205215	TF binding region
USP32P3	TF binding region
SRP68P3	TF binding region
ENSG00000229586	TF binding region
ENSG00000265556	TF binding region
LGALS9B	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
NOS2P3	TF binding region
KRT16P5	TF binding region
ENSG00000266925	TF binding region
ENSG00000231645	TF binding region
KRT16P3	TF binding region
UPF3AP2	CpG island
FAM106B	CpG island
ENSG00000205215	CpG island
USP32P3	CpG island
SRP68P3	CpG island
ENSG00000229586	CpG island
ENSG00000265556	CpG island
LGALS9B	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
NOS2P3	CpG island
KRT16P5	CpG island
ENSG00000266925	CpG island
ENSG00000231645	CpG island
KRT16P3	CpG island

Extended variants
information (count: 3175 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:3175 , 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	rs568248995	chr17:20245747-20245748	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs535756807	chr17:20245763-20245764	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553722505	chr17:20245782-20245783	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs368024222	chr17:20254259-20254260	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs149532100	chr17:20254261-20254262	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs534376574	chr17:20254267-20254268	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201588554	chr17:20254282-20254283	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs560337019	chr17:20254477-20254478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527933094	chr17:20254479-20254480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552462483	chr17:20254480-20254481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs564840565	chr17:20254499-20254500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532008129	chr17:20254533-20254534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs371324523	chr17:20254578-20254579	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs143042302	chr17:20254598-20254599	Weak transcription	lncRNA	n/a	Overlapped CNVs	mRNA abundance
15	rs200813224	chr17:20254601-20254602	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs201988690	chr17:20254627-20254628	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548374815	chr17:20254630-20254631	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs566672524	chr17:20254631-20254632	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs200084662	chr17:20254748-20254749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78019973	chr17:20254786-20254787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570753866	chr17:20254787-20254788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537836905	chr17:20254867-20254868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556539643	chr17:20254995-20254996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs2909506	chr17:20255066-20255067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541922841	chr17:20255200-20255201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs553908274	chr17:20255246-20255247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146200087	chr17:20255255-20255256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546033243	chr17:20255293-20255294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564600440	chr17:20255323-20255324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532065741	chr17:20255460-20255461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543827533	chr17:20255555-20255556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562523037	chr17:20255564-20255565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529764598	chr17:20255566-20255567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548314096	chr17:20255675-20255676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566609229	chr17:20255701-20255702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2261906	chr17:20255772-20255773	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs552385240	chr17:20255829-20255830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs371378983	chr17:20255850-20255851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2261905	chr17:20255855-20255856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570623088	chr17:20256003-20256004	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs538166099	chr17:20256010-20256011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142924533	chr17:20256029-20256030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs189619558	chr17:20256042-20256043	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535498403	chr17:20256048-20256049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182321766	chr17:20256071-20256072	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540381299	chr17:20256126-20256127	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2694322	chr17:20256174-20256175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75599080	chr17:20256200-20256201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200684793	chr17:20256201-20256202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62066885	chr17:20256203-20256204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:153)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal adenocarcinoma	18519675	CNVD
lymphocytic leukemia	21291569	CNVD
Chronic lymphocytic leukemia	21546498	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
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	19278963	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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21509527	CNVD
Cancer	17440070	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20254400-20268200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr17:20255800-20256200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr17:20266000-20268800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr17:20267000-20267600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr17:20268600-20269200	Enhancers	Brain Substantia Nigra	brain
6	chr17:20274000-20274200	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr17:20274600-20275000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:20274800-20275000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr17:20275400-20280000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr17:20280000-20280200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:20282200-20282400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr17:20282400-20282800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:20282400-20282800	Enhancers	Osteobl	bone
14	chr17:20282600-20283200	Enhancers	Muscle Satellite Cultured Cells	--
15	chr17:20282600-20283400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20282800-20283400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:20282800-20284200	Weak transcription	Osteobl	bone
18	chr17:20283000-20283200	Enhancers	HSMM	muscle
19	chr17:20283200-20283400	Enhancers	HSMMtube	muscle
20	chr17:20283200-20284400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr17:20283200-20284600	Weak transcription	HSMM	muscle
22	chr17:20283400-20284200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:20283400-20284200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr17:20283600-20284600	Weak transcription	HSMMtube	muscle
25	chr17:20284000-20284800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:20284200-20284400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr17:20284200-20284600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:20284200-20285000	Enhancers	Osteobl	bone
29	chr17:20284200-20285200	Enhancers	NHEK	skin
30	chr17:20284400-20284800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:20284400-20284800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr17:20284400-20285200	Enhancers	Primary B cells from peripheral blood	blood
33	chr17:20284600-20284800	Enhancers	Primary B cells from cord blood	blood
34	chr17:20284600-20285000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr17:20284600-20285000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:20284600-20285000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr17:20284600-20285000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr17:20284600-20285000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:20284600-20285000	Enhancers	Thymus	Thymus
40	chr17:20284600-20285000	Enhancers	HSMMtube	muscle
41	chr17:20284600-20285200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr17:20284600-20285200	Enhancers	HSMM	muscle
43	chr17:20284600-20285800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr17:20284800-20285000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:20284800-20285000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr17:20284800-20285200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr17:20284800-20285200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr17:20284800-20285200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:20284800-20285200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:20284800-20285200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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