Variant report

Variant	esv12972
Chromosome Location	chr17:20345614-20492036
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:766)
CpG islands
(count:1712)
Chromatin interactive
region (count:1)
LncRNA
region (count:28)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:766 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	chr17:20443708-20444186	GM12878	blood:	n/a	n/a
3	BATF	chr17:20354311-20354673	GM12878	blood:	n/a	chr17:20354476-20354487
4	BATF	chr17:20354345-20354597	GM12878	blood:	n/a	chr17:20354476-20354487
5	BATF	chr17:20443556-20444223	GM12878	blood:	n/a	n/a
6	BATF	chr17:20370787-20371117	GM12878	blood:	n/a	n/a
7	BATF	chr17:20449270-20449503	GM12878	blood:	n/a	n/a
8	BATF	chr17:20370764-20371076	GM12878	blood:	n/a	n/a
9	BCL11A	chr17:20443676-20444145	GM12878	blood:	n/a	n/a
10	BCL11A	chr17:20370806-20371041	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20372530-20372862	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20443777-20444111	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20370709-20371057	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20371063-20371231	GM12878	blood:	n/a	n/a
15	BCL3	chr17:20438566-20438789	GM12878	blood:	n/a	n/a
16	BHLHE40	chr17:20354420-20354612	K562	blood:	n/a	n/a
17	CEBPB	chr17:20474531-20474698	IMR90	lung:	n/a	chr17:20474573-20474584
18	CEBPB	chr17:20474412-20474706	A549	lung:	n/a	chr17:20474573-20474584
19	CEBPB	chr17:20474419-20474705	HepG2	liver:	n/a	chr17:20474573-20474584
20	CEBPB	chr17:20432902-20433054	IMR90	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
21	CEBPB	chr17:20468918-20469141	HepG2	liver:	n/a	chr17:20469062-20469073
22	CEBPB	chr17:20432878-20433065	A549	lung:	n/a	chr17:20432946-20432955 chr17:20432944-20432957 chr17:20432944-20432955
23	CEBPB	chr17:20428677-20428912	K562	blood:	n/a	n/a
24	CEBPB	chr17:20474504-20474704	Hela-S3	cervix:	n/a	chr17:20474573-20474584
25	CEBPB	chr17:20432904-20432946	K562	blood:	n/a	n/a
26	CEBPB	chr17:20469063-20469069	K562	blood:	n/a	n/a
27	CEBPB	chr17:20469051-20469059	Hela-S3	cervix:	n/a	n/a
28	CEBPB	chr17:20388357-20388509	Hela-S3	cervix:	n/a	n/a
29	CHD1	chr17:20434510-20434553	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr17:20356347-20356704	K562	blood:	n/a	chr17:20356439-20356448 chr17:20356439-20356452 chr17:20356467-20356476 chr17:20356436-20356454
31	CTCF	chr17:20359410-20359533	GM19239	blood:	n/a	n/a
32	CTCF	chr17:20350217-20350515	Lung_OC	lung:	n/a	n/a
33	CTCF	chr17:20405320-20405470	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr17:20445580-20445730	HMEC	breast:	n/a	n/a
35	CTCF	chr17:20356209-20356635	A549	lung:	n/a	chr17:20356439-20356448 chr17:20356439-20356452 chr17:20356467-20356476 chr17:20356436-20356454
36	CTCF	chr17:20350400-20350550	GM12875	blood:	n/a	n/a
37	CTCF	chr17:20405347-20405425	GM13976	blood:	n/a	n/a
38	CTCF	chr17:20371945-20371952	LNCaP	prostate:	n/a	n/a
39	CTCF	chr17:20445593-20445750	NHEK	skin:	n/a	n/a
40	CTCF	chr17:20420837-20421005	GM13977	blood:	n/a	n/a
41	CTCF	chr17:20347053-20347167	GM19239	blood:	n/a	n/a
42	CTCF	chr17:20380718-20380769	Lung_OC	lung:	n/a	n/a
43	CTCF	chr17:20350286-20350465	GM10248	blood:	n/a	n/a
44	CTCF	chr17:20487287-20487548	MCF-7	breast:	n/a	n/a
45	CTCF	chr17:20350400-20350550	A549	lung:	n/a	n/a
46	CTCF	chr17:20395438-20395742	NHEK	skin:	n/a	chr17:20395527-20395536
47	CTCF	chr17:20405328-20405455	Kidney_OC	kidney:	n/a	n/a
48	CTCF	chr17:20350400-20350550	BJ	skin:	n/a	n/a
49	CTCF	chr17:20487293-20487541	MCF-7	breast:	n/a	n/a
50	CTCF	chr17:20350300-20350450	AG04450	lung:	n/a	n/a

(count:1712 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20456385-20456435	BJ	skin:	n/a
2	chr17:20409125-20409175	Hela-S3	cervix:	n/a
3	chr17:20454132-20454182	HCF	heart:	n/a
4	chr17:20445757-20445807	MCF10A-Er-Src	breast:	n/a
5	chr17:20456385-20456435	BJ	skin:	n/a
6	chr17:20409125-20409175	Hela-S3	cervix:	n/a
7	chr17:20454132-20454182	HCF	heart:	n/a
8	chr17:20445757-20445807	MCF10A-Er-Src	breast:	n/a
9	chr17:20467965-20468015	SKMC	muscle:	n/a
10	chr17:20405382-20405432	PFSK-1	brain:	n/a
11	chr17:20405382-20405432	HEK293	kidney:	embryo
12	chr17:20489071-20489121	GM12892	blood:	n/a
13	chr17:20446526-20446576	HRCEpiC	kidney:	n/a
14	chr17:20450484-20450534	HIPEpiC	eye:	n/a
15	chr17:20445757-20445807	MCF-7	breast:	n/a
16	chr17:20460588-20460638	T-47D	breast:	n/a
17	chr17:20467965-20468015	HCT-116	colon:	n/a
18	chr17:20448558-20448608	HIPEpiC	eye:	n/a
19	chr17:20458986-20459036	ProgFib	skin:	n/a
20	chr17:20445757-20445807	NHBE	bronchial:	n/a
21	chr17:20458986-20459036	HRE	kidney:	n/a
22	chr17:20408772-20408822	HEK293	kidney:	embryo
23	chr17:20465437-20465487	HEEpiC	esophagus:	n/a
24	chr17:20467917-20467967	LNCaP	prostate:	n/a
25	chr17:20491042-20491092	AoSMC	blood vessel:	n/a
26	chr17:20450484-20450534	HRCEpiC	kidney:	n/a
27	chr17:20454132-20454182	HRPEpiC	eye:	n/a
28	chr17:20450484-20450534	Hela-S3	cervix:	n/a
29	chr17:20467965-20468015	Caco-2	colon:	n/a
30	chr17:20458672-20458722	ECC-1	luminal epithelium:	n/a
31	chr17:20446526-20446576	HMEC	breast:	n/a
32	chr17:20446526-20446576	Hela-S3	cervix:	n/a
33	chr17:20454132-20454182	SKMC	muscle:	n/a
34	chr17:20464366-20464416	H1-hESC	embryonic stem cell:	embryo
35	chr17:20491042-20491092	HIPEpiC	eye:	n/a
36	chr17:20491042-20491092	HEEpiC	esophagus:	n/a
37	chr17:20464366-20464416	SAEC	small airway:	n/a
38	chr17:20481830-20481880	PrEC	prostate:	n/a
39	chr17:20450466-20450516	MCF-7	breast:	n/a
40	chr17:20433187-20433237	NHDF-neo	bronchial:	n/a
41	chr17:20464366-20464416	HRCEpiC	kidney:	n/a
42	chr17:20448558-20448608	ProgFib	skin:	n/a
43	chr17:20445757-20445807	HAEpiC	amniotic membrane:	n/a
44	chr17:20464366-20464416	NHDF-neo	bronchial:	n/a
45	chr17:20450484-20450534	AG10803	skin:	n/a
46	chr17:20480574-20480624	Caco-2	colon:	n/a
47	chr17:20445757-20445807	AG10803	skin:	n/a
48	chr17:20445757-20445807	ovcar-3	ovarian:	n/a
49	chr17:20456901-20456951	PrEC	prostate:	n/a
50	chr17:20433187-20433237	A549	lung:	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:28 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
2	lnc-LGALS9B-13	chr17:20462661-20462723	NONHSAT146793
3	lnc-LGALS9B-13	chr17:20458740-20458896	NONHSAT146793
4	lnc-LGALS9B-1	chr17:20433355-20434194	ENSG00000260907.1
5	lnc-LGALS9B-12	chr17:20446287-20446510	NONHSAT146601
6	lnc-LGALS9B-2	chr17:20479798-20480255	XLOC_012419
7	lnc-LGALS9B-7	chr17:20410726-20412244	ENSG00000266925.1
8	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
9	lnc-LGALS9B-2	chr17:20479980-20480210	ENSG00000264422.1
10	lnc-CCDC144NL-9	chr17:20355108-20355484	NONHSAT146573
11	lnc-LGALS9B-12	chr17:20446789-20446842	NONHSAT146601
12	lnc-LGALS9B-2	chr17:20478895-20479010	XLOC_012419
13	lnc-LGALS9B-2	chr17:20479866-20480107	XLOC_012419
14	lnc-LGALS9B-2	chr17:20481940-20482234	XLOC_012419
15	lnc-CCDC144NL-9	chr17:20356330-20356786	NONHSAT146574
16	lnc-CCDC144NL-9	chr17:20355135-20355196	NONHSAT146574
17	lnc-LGALS9B-4	chr17:20375554-20376706	ucscGeneNc_uc002gxd_1
18	lnc-LGALS9B-12	chr17:20447359-20447436	NONHSAT146601
19	lnc-LGALS9B-2	chr17:20478895-20479172	XLOC_012419
20	lnc-LGALS9B-10	chr17:20435561-20436194	NONHSAT146584
21	lnc-LGALS9B-2	chr17:20479798-20480107	XLOC_012419
22	lnc-CCDC144NL-9	chr17:20354914-20355028	NONHSAT146573
23	lnc-LGALS9B-2	chr17:20478827-20479172	XLOC_012419
24	lnc-LGALS9B-13	chr17:20459470-20459532	NONHSAT146793
25	lnc-LGALS9B-4	chr17:20373955-20374185	ucscGeneNc_uc002gxd_1
26	lnc-CCDC144NL-9	chr17:20355664-20355708	NONHSAT146574
27	lnc-LGALS9B-2	chr17:20481940-20482149	XLOC_012419
28	lnc-LGALS9B-2	chr17:20481940-20482061	ENSG00000264422.1

No data

Variant related genes	Relation type
ENSG00000260907	TF binding region
YWHAEP3	TF binding region
ENSG00000266042	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
COTL1P2	TF binding region
ENSG00000231645	TF binding region
MEIS3P2	TF binding region
ENSG00000264422	TF binding region
TBC1D3P3	TF binding region
KRT16P3	TF binding region
ENSG00000229586	TF binding region
LGALS9B	TF binding region
ENSG00000264981	TF binding region
ENSG00000267075	TF binding region
CDRT15L2	TF binding region
ENSG00000260907	CpG island
YWHAEP3	CpG island
ENSG00000266042	CpG island
KRT16P5	CpG island
ENSG00000266925	CpG island
ENSG00000263946	CpG island
ENSG00000230339	CpG island
ENSG00000265916	CpG island
ENSG00000205215	CpG island
COTL1P2	CpG island
ENSG00000231645	CpG island
MEIS3P2	CpG island
ENSG00000264422	CpG island
TBC1D3P3	CpG island
KRT16P3	CpG island
ENSG00000229586	CpG island
LGALS9B	CpG island
ENSG00000264981	CpG island
ENSG00000267075	CpG island
CDRT15L2	CpG island
ENSG00000214860	chromatin interactions
VPS4B	miRNA target sites
RNF125	miRNA target sites
GTF3C4	miRNA target sites

Extended variants
information (count: 3322 )
Associated
traits (count: 151 )

Variant overlapped rSNPs/rCNVs (count:3322 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376585015	chr17:20348029-20348030	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs145063886	chr17:20348064-20348065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs538733887	chr17:20348068-20348069	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs559156072	chr17:20348071-20348072	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs571062883	chr17:20348084-20348085	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs145780380	chr17:20348109-20348110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs538513455	chr17:20348126-20348127	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs62066944	chr17:20348136-20348137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62066945	chr17:20348147-20348148	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs148243303	chr17:20348172-20348173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs2086878	chr17:20348183-20348184	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs185016250	chr17:20348184-20348185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs144791371	chr17:20350223-20350224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554507678	chr17:20350243-20350244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148547974	chr17:20350301-20350302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11553604	chr17:20350320-20350321	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs71247620	chr17:20350440-20350441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140174188	chr17:20350453-20350454	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143621490	chr17:20350472-20350473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576559058	chr17:20350482-20350483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200885636	chr17:20350500-20350501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190995318	chr17:20350510-20350511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533891849	chr17:20350522-20350523	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs71247621	chr17:20350567-20350568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562583867	chr17:20350569-20350570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529961603	chr17:20350583-20350584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs4985819	chr17:20350585-20350586	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs71247622	chr17:20350604-20350605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560513601	chr17:20350629-20350630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs527705093	chr17:20350638-20350639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs552635604	chr17:20350651-20350652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376728087	chr17:20350745-20350746	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs564547679	chr17:20350751-20350752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531886099	chr17:20350771-20350772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs111950186	chr17:20354025-20354026	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs559399402	chr17:20354162-20354163	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs59377975	chr17:20354222-20354223	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs62066950	chr17:20354269-20354270	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs533010776	chr17:20354285-20354286	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs551474678	chr17:20354310-20354311	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs563303642	chr17:20354311-20354312	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs530714276	chr17:20354365-20354366	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144222133	chr17:20354393-20354394	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs78075074	chr17:20354406-20354407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567217956	chr17:20354466-20354467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs57791812	chr17:20354477-20354478	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534644699	chr17:20354492-20354493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140292022	chr17:20354549-20354550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs146582979	chr17:20354556-20354557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs546551782	chr17:20354561-20354562	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:151)

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
Breast cancer	22522925	CNVD

Chromatin state (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20348000-20348200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr17:20350200-20350800	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr17:20354000-20354200	Active TSS	Hela-S3	cervix
4	chr17:20354000-20355400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr17:20354200-20354400	Flanking Active TSS	Hela-S3	cervix
6	chr17:20354200-20355200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr17:20354400-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:20354800-20355200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:20357200-20369000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr17:20358200-20368800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr17:20366000-20366200	Enhancers	Rectal Mucosa Donor 29	rectum
12	chr17:20366200-20369200	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr17:20368200-20368400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20368400-20369000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:20368800-20369800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr17:20369000-20369400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:20369000-20369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr17:20369000-20370800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr17:20369200-20370800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr17:20369400-20369600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr17:20369400-20369800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr17:20369400-20369800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr17:20369400-20370800	Enhancers	Primary T cells fromperipheralblood	blood
24	chr17:20369600-20370400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:20369600-20370400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:20369600-20370600	Enhancers	Esophagus	oesophagus
27	chr17:20369800-20370200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr17:20369800-20370400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:20369800-20380000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:20370200-20370400	Enhancers	GM12878-XiMat	blood
31	chr17:20370200-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:20370400-20370600	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr17:20370400-20370600	Enhancers	Colonic Mucosa	Colon
34	chr17:20370400-20370800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr17:20370400-20370800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr17:20370400-20370800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:20370400-20370800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr17:20370400-20370800	Enhancers	Primary B cells from cord blood	blood
39	chr17:20370400-20370800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr17:20370400-20370800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr17:20370400-20370800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr17:20370400-20370800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr17:20370400-20370800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr17:20370400-20370800	Active TSS	Duodenum Mucosa	Duodenum
45	chr17:20370400-20370800	Active TSS	Rectal Smooth Muscle	rectum
46	chr17:20370400-20370800	Flanking Active TSS	GM12878-XiMat	blood
47	chr17:20370400-20370800	Enhancers	Hela-S3	cervix
48	chr17:20370400-20370800	Enhancers	HMEC	breast
49	chr17:20370400-20370800	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr17:20370400-20370800	Enhancers	NHEK	skin

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