Variant report

Variant	nsv1066226
Chromosome Location	chr17:20330062-20462724
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:747)
CpG islands
(count:1282)
Chromatin interactive
region (count:1)
LncRNA
region (count:18)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:747 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

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	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
3	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
4	BATF	chr17:20339552-20339955	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
5	BATF	chr17:20339605-20339854	GM12878	blood:	n/a	chr17:20339773-20339784 chr17:20339774-20339784
6	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
7	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
8	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
9	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
10	BATF	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
16	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
17	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
19	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
20	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
21	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
23	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
24	CHD1	chr17:20434510-20434553	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr17:20350400-20350550	HCT-116	colon:	n/a	n/a
26	CTCF	chr17:20351103-20351121	MCF-7	breast:	n/a	n/a
27	CTCF	chr17:20350160-20350310	AG10803	skin:	n/a	n/a
28	CTCF	chr17:20445580-20445730	AG09319	gingival:	n/a	n/a
29	CTCF	chr17:20350252-20350489	IMR90	lung:	n/a	n/a
30	CTCF	chr17:20420860-20421010	GM12864	blood:	n/a	n/a
31	CTCF	chr17:20399902-20399910	Kidney_OC	kidney:	n/a	n/a
32	CTCF	chr17:20350087-20350618	A549	lung:	n/a	n/a
33	CTCF	chr17:20350275-20350482	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr17:20347034-20347232	MCF-7	breast:	n/a	n/a
35	CTCF	chr17:20378584-20378697	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr17:20347019-20347208	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr17:20346980-20347130	SAEC	small airway:	n/a	n/a
38	CTCF	chr17:20411945-20412008	GM20000	blood:	n/a	n/a
39	CTCF	chr17:20350960-20351110	HEK293	kidney:	n/a	n/a
40	CTCF	chr17:20461592-20461601	GM10248	blood:	n/a	n/a
41	CTCF	chr17:20406691-20406724	Pancreas_OC	pancreas:	n/a	n/a
42	CTCF	chr17:20356538-20356604	GM10248	blood:	n/a	n/a
43	CTCF	chr17:20350244-20350524	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr17:20350224-20350539	A549	lung:	n/a	n/a
45	CTCF	chr17:20399521-20399538	GM10248	blood:	n/a	n/a
46	CTCF	chr17:20350255-20350456	GM12878	blood:	n/a	n/a
47	CTCF	chr17:20350224-20350511	K562	blood:	n/a	n/a
48	CTCF	chr17:20350257-20350458	MCF-7	breast:	n/a	n/a
49	CTCF	chr17:20399541-20399560	GM10248	blood:	n/a	n/a
50	CTCF	chr17:20458747-20458804	GM12892	blood:	n/a	n/a

(count:1282 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20445757-20445807	GM12891	blood:	n/a
2	chr17:20445757-20445807	GM12891	blood:	n/a
3	chr17:20448558-20448608	HRCEpiC	kidney:	n/a
4	chr17:20460627-20460677	HCM	heart:	n/a
5	chr17:20346491-20346541	GM19239	blood:	n/a
6	chr17:20409125-20409175	Caco-2	colon:	n/a
7	chr17:20446526-20446576	PANC-1	pancreas:	n/a
8	chr17:20446526-20446576	HCM	heart:	n/a
9	chr17:20450466-20450516	HL-60	blood:	n/a
10	chr17:20405382-20405432	HRCEpiC	kidney:	n/a
11	chr17:20445757-20445807	SAEC	small airway:	n/a
12	chr17:20405382-20405432	AG04450	lung:	fetal
13	chr17:20433187-20433237	AG10803	skin:	n/a
14	chr17:20339589-20339639	AoSMC	blood vessel:	n/a
15	chr17:20446526-20446576	NH-A	brain:	n/a
16	chr17:20454132-20454182	RPTEC	kidney:	n/a
17	chr17:20446526-20446576	SK-N-SH_RA	brain:	n/a
18	chr17:20433187-20433237	Caco-2	colon:	n/a
19	chr17:20445757-20445807	NT2-D1	testis:	n/a
20	chr17:20339589-20339639	A549	lung:	n/a
21	chr17:20450466-20450516	NHDF-neo	bronchial:	n/a
22	chr17:20370597-20370647	HRCEpiC	kidney:	n/a
23	chr17:20339878-20339928	K562	blood:	n/a
24	chr17:20458672-20458722	BE2_C	brain:	n/a
25	chr17:20339878-20339928	HPAEpiC	pulmonary alveolar:	n/a
26	chr17:20445757-20445807	A549	lung:	n/a
27	chr17:20448558-20448608	U87	brain:	n/a
28	chr17:20408772-20408822	HMEC	breast:	n/a
29	chr17:20460588-20460638	SK-N-MC	brain:	n/a
30	chr17:20448558-20448608	Hela-S3	cervix:	n/a
31	chr17:20450484-20450534	SK-N-SH_RA	brain:	n/a
32	chr17:20450484-20450534	HRE	kidney:	n/a
33	chr17:20370597-20370647	NT2-D1	testis:	n/a
34	chr17:20456901-20456951	NHBE	bronchial:	n/a
35	chr17:20456385-20456435	HRCEpiC	kidney:	n/a
36	chr17:20408647-20408697	PrEC	prostate:	n/a
37	chr17:20446526-20446576	HEK293	kidney:	embryo
38	chr17:20456385-20456435	AG09309	skin:	n/a
39	chr17:20405382-20405432	ProgFib	skin:	n/a
40	chr17:20408647-20408697	HEEpiC	esophagus:	n/a
41	chr17:20448558-20448608	HPAEpiC	pulmonary alveolar:	n/a
42	chr17:20456385-20456435	HEK293	kidney:	embryo
43	chr17:20409125-20409175	HAEpiC	amniotic membrane:	n/a
44	chr17:20460588-20460638	HIPEpiC	eye:	n/a
45	chr17:20409125-20409175	BE2_C	brain:	n/a
46	chr17:20408647-20408697	HRE	kidney:	n/a
47	chr17:20409125-20409175	IMR90	lung:	fetal
48	chr17:20458672-20458722	HCF	heart:	n/a
49	chr17:20446526-20446576	HCPEpiC	choroid plexus:	n/a
50	chr17:20458986-20459036	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:18289123..18291183-chr17:20462480..20465308,2	MCF-7	breast:

(count:18 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
2	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
3	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
4	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
5	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
6	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
7	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
8	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
9	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
10	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
11	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
12	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
13	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
14	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
15	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
16	lnc-FAM106B-2	chr17:20337350-20337598	ENSG00000265556.1
17	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
18	lnc-FAM106B-2	chr17:20336519-20336570	ENSG00000265556.1

No data

Variant related genes	Relation type
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	TF binding region
NOS2P3	TF binding region
KRT16P5	TF binding region
ENSG00000266925	TF binding region
ENSG00000263946	TF binding region
ENSG00000230339	TF binding region
ENSG00000265916	TF binding region
ENSG00000205215	TF binding region
ENSG00000231645	TF binding region
TBC1D3P3	TF binding region
KRT16P3	TF binding region
ENSG00000229586	TF binding region
ENSG00000265556	TF binding region
LGALS9B	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
NOS2P3	CpG island
KRT16P5	CpG island
ENSG00000266925	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
ENSG00000231645	CpG island
TBC1D3P3	CpG island
KRT16P3	CpG island
ENSG00000229586	CpG island
ENSG00000265556	CpG island
LGALS9B	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
ENSG00000214860	chromatin interactions

Extended variants
information (count: 2589 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:2589 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532266361	chr17:20330068-20330069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146668025	chr17:20330077-20330078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191055487	chr17:20330080-20330081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536103939	chr17:20330121-20330122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200393106	chr17:20330177-20330178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566501644	chr17:20330210-20330211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533955291	chr17:20330211-20330212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574143385	chr17:20330212-20330213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs558945604	chr17:20330220-20330221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs577245535	chr17:20330233-20330234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544738058	chr17:20330265-20330266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556469768	chr17:20330281-20330282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575094781	chr17:20330319-20330320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs542493564	chr17:20330368-20330369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs560786628	chr17:20330369-20330370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528054951	chr17:20330439-20330440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542973707	chr17:20330445-20330446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs560044550	chr17:20330493-20330494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564921271	chr17:20330527-20330528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs4110066	chr17:20330530-20330531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370510268	chr17:20330701-20330702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550662173	chr17:20330716-20330717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4110067	chr17:20330721-20330722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs529863263	chr17:20330730-20330731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs369135348	chr17:20330753-20330754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374434250	chr17:20330754-20330755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35370633	chr17:20330756-20330757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs76490929	chr17:20330792-20330793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112422051	chr17:20330793-20330794	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs372965301	chr17:20330794-20330795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs34413635	chr17:20330808-20330809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566414758	chr17:20330931-20330932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368311095	chr17:20330958-20330959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370888628	chr17:20330994-20330995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs13341877	chr17:20331025-20331026	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs182040971	chr17:20331035-20331036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570864432	chr17:20331074-20331075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537910466	chr17:20331126-20331127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs2694192	chr17:20331131-20331132	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs575058806	chr17:20331141-20331142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536068216	chr17:20331171-20331172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368661356	chr17:20331214-20331215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs551016102	chr17:20331271-20331272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs3897108	chr17:20331290-20331291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554438463	chr17:20331355-20331356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572626738	chr17:20331383-20331384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs546520647	chr17:20331394-20331395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2694193	chr17:20331407-20331408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12950172	chr17:20331469-20331470	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
50	rs574810444	chr17:20331539-20331540	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:352 , 50 per page) page: 1 2 3 4 5 6 7 8

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

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