Variant report

Variant	nsv1055600
Chromosome Location	chr17:20293079-20433857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:553)
CpG islands
(count:611)
Chromatin interactive
region (count:0)
LncRNA
region (count:17)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

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	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
3	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
4	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
5	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
6	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
7	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
8	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20326172-20326448	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
13	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
14	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
15	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
17	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
18	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
19	CTCF	chr17:20395438-20395742	NHEK	skin:	n/a	chr17:20395527-20395536
20	CTCF	chr17:20350258-20350455	GM12891	blood:	n/a	n/a
21	CTCF	chr17:20322301-20322365	Hela-S3	cervix:	n/a	n/a
22	CTCF	chr17:20350259-20350567	A549	lung:	n/a	n/a
23	CTCF	chr17:20352289-20352330	Spleen_OC	spleen:	n/a	n/a
24	CTCF	chr17:20356297-20356568	A549	lung:	n/a	chr17:20356439-20356448 chr17:20356439-20356452 chr17:20356467-20356476 chr17:20356436-20356454
25	CTCF	chr17:20350275-20350462	Fibrobl	skin:	n/a	n/a
26	CTCF	chr17:20350420-20350570	HVMF	connective:	n/a	n/a
27	CTCF	chr17:20354237-20354279	NHEK	skin:	n/a	n/a
28	CTCF	chr17:20346859-20347346	A549	lung:	n/a	n/a
29	CTCF	chr17:20405347-20405425	GM13976	blood:	n/a	n/a
30	CTCF	chr17:20341011-20341087	LNCaP	prostate:	n/a	n/a
31	CTCF	chr17:20356410-20356462	GM12892	blood:	n/a	chr17:20356439-20356448 chr17:20356439-20356452 chr17:20356436-20356454
32	CTCF	chr17:20357964-20357975	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr17:20350160-20350310	RPTEC	kidney:	n/a	n/a
34	CTCF	chr17:20350271-20350483	GM12892	blood:	n/a	n/a
35	CTCF	chr17:20322236-20322378	LNCaP	prostate:	n/a	n/a
36	CTCF	chr17:20350440-20350590	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr17:20354535-20354577	LNCaP	prostate:	n/a	n/a
38	CTCF	chr17:20322239-20322399	Pancreas_OC	pancreas:	n/a	n/a
39	CTCF	chr17:20404997-20405070	GM10266	blood:	n/a	n/a
40	CTCF	chr17:20411957-20412008	Pancreas_OC	pancreas:	n/a	n/a
41	CTCF	chr17:20350380-20350530	GM06990	blood:	n/a	n/a
42	CTCF	chr17:20350354-20350438	Medullo	brain:	n/a	n/a
43	CTCF	chr17:20350252-20350489	IMR90	lung:	n/a	n/a
44	CTCF	chr17:20400000-20400073	GM10248	blood:	n/a	n/a
45	CTCF	chr17:20369632-20369730	GM19240	blood:	n/a	chr17:20369674-20369690 chr17:20369675-20369696 chr17:20369673-20369691 chr17:20369678-20369688
46	CTCF	chr17:20350290-20350449	GM20000	blood:	n/a	n/a
47	CTCF	chr17:20322130-20322449	A549	lung:	n/a	n/a
48	CTCF	chr17:20347016-20347189	GM19240	blood:	n/a	n/a
49	CTCF	chr17:20350321-20350434	HepG2	liver:	n/a	n/a
50	CTCF	chr17:20350087-20350618	A549	lung:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20370597-20370647	SK-N-MC	brain:	n/a
2	chr17:20370597-20370647	SK-N-MC	brain:	n/a
3	chr17:20408772-20408822	Caco-2	colon:	n/a
4	chr17:20370597-20370647	GM12891	blood:	n/a
5	chr17:20370597-20370647	PFSK-1	brain:	n/a
6	chr17:20326541-20326591	SK-N-SH	brain:	n/a
7	chr17:20346491-20346541	AoSMC	blood vessel:	n/a
8	chr17:20339589-20339639	HNPCEpiC	eye:	n/a
9	chr17:20339878-20339928	A549	lung:	n/a
10	chr17:20370597-20370647	HAEpiC	amniotic membrane:	n/a
11	chr17:20405382-20405432	HepG2	liver:	n/a
12	chr17:20408647-20408697	HPAEpiC	pulmonary alveolar:	n/a
13	chr17:20326541-20326591	ECC-1	luminal epithelium:	n/a
14	chr17:20339589-20339639	SK-N-SH_RA	brain:	n/a
15	chr17:20346491-20346541	MCF10A-Er-Src	breast:	n/a
16	chr17:20408647-20408697	NT2-D1	testis:	n/a
17	chr17:20405382-20405432	PFSK-1	brain:	n/a
18	chr17:20326541-20326591	GM12878	blood:	n/a
19	chr17:20408647-20408697	BE2_C	brain:	n/a
20	chr17:20408647-20408697	MCF10A-Er-Src	breast:	n/a
21	chr17:20408772-20408822	U87	brain:	n/a
22	chr17:20409125-20409175	AG04450	lung:	fetal
23	chr17:20370597-20370647	H1-hESC	embryonic stem cell:	embryo
24	chr17:20339878-20339928	NHDF-neo	bronchial:	n/a
25	chr17:20370597-20370647	K562	blood:	n/a
26	chr17:20405382-20405432	MCF-7	breast:	n/a
27	chr17:20346491-20346541	PANC-1	pancreas:	n/a
28	chr17:20326541-20326591	SAEC	small airway:	n/a
29	chr17:20326541-20326591	HMEC	breast:	n/a
30	chr17:20405382-20405432	HCF	heart:	n/a
31	chr17:20346491-20346541	SKMC	muscle:	n/a
32	chr17:20408772-20408822	HUVEC	blood vessel:	n/a
33	chr17:20339878-20339928	Hepatocyte	liver:	n/a
34	chr17:20409125-20409175	SK-N-MC	brain:	n/a
35	chr17:20408772-20408822	HAEpiC	amniotic membrane:	n/a
36	chr17:20405382-20405432	SKMC	muscle:	n/a
37	chr17:20408647-20408697	LNCaP	prostate:	n/a
38	chr17:20370597-20370647	ovcar-3	ovarian:	n/a
39	chr17:20433187-20433237	GM12891	blood:	n/a
40	chr17:20405382-20405432	GM12878	blood:	n/a
41	chr17:20408647-20408697	HMEC	breast:	n/a
42	chr17:20346491-20346541	GM19239	blood:	n/a
43	chr17:20339878-20339928	IMR90	lung:	fetal
44	chr17:20409125-20409175	T-47D	breast:	n/a
45	chr17:20326541-20326591	SK-N-MC	brain:	n/a
46	chr17:20370597-20370647	GM06990	blood:	n/a
47	chr17:20409125-20409175	ECC-1	luminal epithelium:	n/a
48	chr17:20409125-20409175	BE2_C	brain:	n/a
49	chr17:20409125-20409175	HRCEpiC	kidney:	n/a
50	chr17:20408772-20408822	HNPCEpiC	eye:	n/a

No data

(count:17 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
2	lnc-CCDC144C-1	chr17:20305369-20305504	NR_023380
3	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
4	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
5	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
6	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
7	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
8	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
9	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
10	lnc-CCDC144C-1	chr17:20294788-20295081	NR_023380
11	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
12	lnc-FAM106B-1	chr17:20320741-20322363	NONHSAT146570
13	lnc-CCDC144C-1	chr17:20295677-20295897	NR_023380
14	lnc-FAM106B-1	chr17:20320763-20321272	NONHSAT146571
15	lnc-CCDC144C-1	chr17:20303834-20303876	NR_023380
16	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
17	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1

No data

Variant related genes	Relation type
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
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: 2419 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:2419 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202156910	chr17:20294824-20294825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs545837489	chr17:20294974-20294975	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs558120699	chr17:20294978-20294979	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs554975406	chr17:20294984-20294985	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs188508865	chr17:20295686-20295687	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs562615194	chr17:20295706-20295707	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs539714524	chr17:20295709-20295710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs557793239	chr17:20295713-20295714	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs199643662	chr17:20295789-20295790	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs145016780	chr17:20295808-20295809	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs370969623	chr17:20295809-20295810	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs2656406	chr17:20295824-20295825	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs555871491	chr17:20295848-20295849	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs575100453	chr17:20295866-20295867	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs554129378	chr17:20303857-20303858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs564584494	chr17:20304028-20304029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188209556	chr17:20304047-20304048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs115465086	chr17:20304049-20304050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192629475	chr17:20304064-20304065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143564615	chr17:20304071-20304072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369595359	chr17:20304106-20304107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs111319512	chr17:20304156-20304157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs560073837	chr17:20304196-20304197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527323307	chr17:20304223-20304224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552216980	chr17:20304254-20304255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570237619	chr17:20304273-20304274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs372013682	chr17:20304410-20304411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549577221	chr17:20304423-20304424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs567956226	chr17:20304432-20304433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs535716411	chr17:20304492-20304493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553814048	chr17:20304497-20304498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572368052	chr17:20304586-20304587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539468387	chr17:20304648-20304649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113336373	chr17:20304671-20304672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558235840	chr17:20304782-20304783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576619439	chr17:20304795-20304796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs543973201	chr17:20304796-20304797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs562262488	chr17:20304859-20304860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574181437	chr17:20304924-20304925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113445495	chr17:20304966-20304967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541696353	chr17:20305035-20305036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559811954	chr17:20305095-20305096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527251961	chr17:20305099-20305100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551891252	chr17:20305171-20305172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs538048771	chr17:20305306-20305307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563801063	chr17:20305320-20305321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375959559	chr17:20305337-20305338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370166680	chr17:20305338-20305339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373830630	chr17:20305339-20305340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201084729	chr17:20305346-20305347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:152)

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	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20304000-20304800	Enhancers	NHEK	skin
2	chr17:20304800-20305600	Weak transcription	NHEK	skin
3	chr17:20305600-20305800	Enhancers	NHEK	skin
4	chr17:20314600-20337600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr17:20325200-20325600	Enhancers	Monocytes-CD14+_RO01746	blood
6	chr17:20325200-20325800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr17:20325200-20326000	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr17:20325200-20326000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:20325600-20326000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr17:20326400-20327200	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:20326800-20336400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr17:20327400-20334600	Weak transcription	Brain Angular Gyrus	brain
14	chr17:20327600-20327800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr17:20330600-20336800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20348000-20348200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:20350200-20350800	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr17:20354000-20354200	Active TSS	Hela-S3	cervix
19	chr17:20354000-20355400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:20354200-20354400	Flanking Active TSS	Hela-S3	cervix
21	chr17:20354200-20355200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr17:20354400-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr17:20354800-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr17:20357200-20369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:20358200-20368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr17:20366000-20366200	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr17:20366200-20369200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr17:20368200-20368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:20368400-20369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:20368800-20369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr17:20369000-20369400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr17:20369000-20369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr17:20369000-20370800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr17:20369200-20370800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr17:20369400-20369600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr17:20369400-20369800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr17:20369400-20369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr17:20369400-20370800	Enhancers	Primary T cells fromperipheralblood	blood
39	chr17:20369600-20370400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr17:20369600-20370400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr17:20369600-20370600	Enhancers	Esophagus	oesophagus
42	chr17:20369800-20370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:20369800-20370400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:20369800-20380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:20370200-20370400	Enhancers	GM12878-XiMat	blood
46	chr17:20370200-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr17:20370400-20370600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr17:20370400-20370600	Enhancers	Colonic Mucosa	Colon
49	chr17:20370400-20370800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:20370400-20370800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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