Variant report

Variant	nsv833400
Chromosome Location	chr17:20497681-20649658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:737)
CpG islands
(count:488)
Chromatin interactive
region (count:6)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:737 , 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	ATF1	chr17:20637414-20637538	K562	blood:	n/a	n/a
2	ATF2	chr17:20552417-20552929	GM12878	blood:	n/a	n/a
3	ATF2	chr17:20552401-20552830	GM12878	blood:	n/a	n/a
4	BATF	chr17:20552419-20552811	GM12878	blood:	n/a	n/a
5	BATF	chr17:20568713-20568948	GM12878	blood:	n/a	chr17:20568784-20568795
6	BATF	chr17:20602187-20602524	GM12878	blood:	n/a	n/a
7	BATF	chr17:20573899-20574074	GM12878	blood:	n/a	n/a
8	BATF	chr17:20552423-20552925	GM12878	blood:	n/a	n/a
9	BATF	chr17:20554357-20554645	GM12878	blood:	n/a	n/a
10	BATF	chr17:20602164-20602479	GM12878	blood:	n/a	n/a
11	BCL11A	chr17:20554373-20554609	GM12878	blood:	n/a	n/a
12	BCL11A	chr17:20552438-20552751	GM12878	blood:	n/a	n/a
13	BCL11A	chr17:20554375-20554592	GM12878	blood:	n/a	n/a
14	BCL11A	chr17:20552374-20552875	GM12878	blood:	n/a	n/a
15	BCL11A	chr17:20581794-20582050	GM12878	blood:	n/a	chr17:20582005-20582012
16	BCL11A	chr17:20602137-20602533	GM12878	blood:	n/a	n/a
17	BCL11A	chr17:20602069-20602629	GM12878	blood:	n/a	n/a
18	BCL11A	chr17:20603932-20604264	GM12878	blood:	n/a	n/a
19	BCL11A	chr17:20559489-20559685	GM12878	blood:	n/a	n/a
20	BHLHE40	chr17:20552469-20552691	GM12878	blood:	n/a	n/a
21	BHLHE40	chr17:20514794-20515059	K562	blood:	n/a	chr17:20514926-20514939 chr17:20514929-20514938 chr17:20514928-20514937
22	BHLHE40	chr17:20602321-20602362	GM12878	blood:	n/a	n/a
23	CEBPB	chr17:20568666-20568987	K562	blood:	n/a	chr17:20568791-20568804
24	CEBPB	chr17:20557457-20557822	Hela-S3	cervix:	n/a	chr17:20557790-20557807
25	CEBPB	chr17:20614479-20614538	K562	blood:	n/a	n/a
26	CEBPB	chr17:20625585-20625841	HepG2	liver:	n/a	chr17:20625724-20625737
27	CEBPB	chr17:20624556-20624832	A549	lung:	n/a	n/a
28	CEBPB	chr17:20621783-20621875	A549	lung:	n/a	n/a
29	CEBPB	chr17:20624537-20624839	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr17:20557555-20557814	IMR90	lung:	n/a	chr17:20557790-20557807
31	CEBPB	chr17:20516625-20516934	HepG2	liver:	n/a	n/a
32	CHD1	chr17:20552549-20552628	GM12878	blood:	n/a	n/a
33	CHD2	chr17:20602331-20602356	GM12878	blood:	n/a	n/a
34	CTCF	chr17:20550011-20550403	K562	blood:	n/a	chr17:20550147-20550160
35	CTCF	chr17:20514680-20514830	GM12870	blood:	n/a	n/a
36	CTCF	chr17:20550000-20550150	K562	blood:	n/a	n/a
37	CTCF	chr17:20570040-20570190	AG09319	gingival:	n/a	n/a
38	CTCF	chr17:20550019-20550357	Lung_OC	lung:	n/a	chr17:20550147-20550160
39	CTCF	chr17:20592542-20592638	ProgFib	skin:	n/a	n/a
40	CTCF	chr17:20570101-20570304	K562	blood:	n/a	chr17:20570200-20570213
41	CTCF	chr17:20514720-20514870	A549	lung:	n/a	n/a
42	CTCF	chr17:20514680-20514830	GM12875	blood:	n/a	n/a
43	CTCF	chr17:20558450-20558706	A549	lung:	n/a	n/a
44	CTCF	chr17:20550020-20550170	GM12864	blood:	n/a	chr17:20550147-20550160
45	CTCF	chr17:20550040-20550190	NB4	blood:	n/a	chr17:20550147-20550160
46	CTCF	chr17:20543342-20543458	K562	blood:	n/a	chr17:20543375-20543383
47	CTCF	chr17:20550120-20550270	HepG2	liver:	n/a	chr17:20550147-20550160
48	CTCF	chr17:20550000-20550150	HPF	lung:	n/a	n/a
49	CTCF	chr17:20550040-20550190	GM12866	blood:	n/a	chr17:20550147-20550160
50	CTCF	chr17:20550020-20550170	AG09319	gingival:	n/a	chr17:20550147-20550160

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:20516917-20516967	HCT-116	colon:	n/a
2	chr17:20516019-20516069	AG10803	skin:	n/a
3	chr17:20516917-20516967	AG04449	skin:	fetal
4	chr17:20536885-20536935	HPAEpiC	pulmonary alveolar:	n/a
5	chr17:20536885-20536935	Caco-2	colon:	n/a
6	chr17:20515873-20515923	GM12892	blood:	n/a
7	chr17:20536885-20536935	HCPEpiC	choroid plexus:	n/a
8	chr17:20516820-20516870	HPAEpiC	pulmonary alveolar:	n/a
9	chr17:20515873-20515923	SAEC	small airway:	n/a
10	chr17:20516019-20516069	SKMC	muscle:	n/a
11	chr17:20515873-20515923	HMEC	breast:	n/a
12	chr17:20536948-20536998	GM12878	blood:	n/a
13	chr17:20536885-20536935	HAEpiC	amniotic membrane:	n/a
14	chr17:20516172-20516222	A549	lung:	n/a
15	chr17:20516917-20516967	AG09319	gingival:	n/a
16	chr17:20515873-20515923	HPAEpiC	pulmonary alveolar:	n/a
17	chr17:20515873-20515923	AG04449	skin:	fetal
18	chr17:20515873-20515923	NHDF-neo	bronchial:	n/a
19	chr17:20515873-20515923	NB4	blood:	n/a
20	chr17:20516172-20516222	HIPEpiC	eye:	n/a
21	chr17:20516172-20516222	SK-N-MC	brain:	n/a
22	chr17:20516019-20516069	GM06990	blood:	n/a
23	chr17:20516172-20516222	HCPEpiC	choroid plexus:	n/a
24	chr17:20515873-20515923	AG10803	skin:	n/a
25	chr17:20516172-20516222	Hela-S3	cervix:	n/a
26	chr17:20536885-20536935	SK-N-MC	brain:	n/a
27	chr17:20536885-20536935	NB4	blood:	n/a
28	chr17:20516820-20516870	GM19239	blood:	n/a
29	chr17:20516917-20516967	Caco-2	colon:	n/a
30	chr17:20536948-20536998	PFSK-1	brain:	n/a
31	chr17:20515873-20515923	MCF10A-Er-Src	breast:	n/a
32	chr17:20516917-20516967	NB4	blood:	n/a
33	chr17:20516820-20516870	HNPCEpiC	eye:	n/a
34	chr17:20516917-20516967	GM19239	blood:	n/a
35	chr17:20516019-20516069	NH-A	brain:	n/a
36	chr17:20536885-20536935	BJ	skin:	n/a
37	chr17:20517129-20517179	GM06990	blood:	n/a
38	chr17:20516019-20516069	NHDF-neo	bronchial:	n/a
39	chr17:20516172-20516222	AG09319	gingival:	n/a
40	chr17:20516917-20516967	HMEC	breast:	n/a
41	chr17:20516917-20516967	HNPCEpiC	eye:	n/a
42	chr17:20536885-20536935	AG04450	lung:	fetal
43	chr17:20515873-20515923	HUVEC	blood vessel:	n/a
44	chr17:20516019-20516069	GM12892	blood:	n/a
45	chr17:20516019-20516069	GM19239	blood:	n/a
46	chr17:20536948-20536998	BJ	skin:	n/a
47	chr17:20516917-20516967	HL-60	blood:	n/a
48	chr17:20517129-20517179	RPTEC	kidney:	n/a
49	chr17:20516917-20516967	SK-N-SH	brain:	n/a
50	chr17:20536948-20536998	CMK	blood:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:20640004..20640962-chr17:58024195..58025007,2	MCF-7	breast:
2	chr17:20610050..20610947-chr17:30454022..30454629,2	Hela-S3	cervix:
3	chr17:20647874..20648866-chr17:58031160..58032144,3	MCF-7	breast:
4	chr17:20646890..20651186-chr17:58030459..58033432,3	MCF-7	breast:
5	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:
6	chr17:20639441..20641960-chr17:20642430..20644326,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LGALS9B-3	chr17:20536347-20536572	NONHSAT146828
2	lnc-LGALS9B-3	chr17:20517801-20517981	ENSG00000227685.1
3	lnc-LGALS9B-3	chr17:20516225-20516387	ENSG00000227685.1
4	lnc-LGALS9B-3	chr17:20534785-20534862	ENSG00000227685.1
5	lnc-LGALS9B-3	chr17:20536350-20536547	ENSG00000227685.1

No data

Variant related genes	Relation type
ENSG00000227685	TF binding region
ENSG00000264874	TF binding region
ZSWIM5P2	TF binding region
ENSG00000232889	TF binding region
ENSG00000235546	TF binding region
ENSG00000266364	TF binding region
ENSG00000236504	TF binding region
ENSG00000226521	TF binding region
ENSG00000226096	TF binding region
ENSG00000227685	CpG island
ENSG00000264874	CpG island
ZSWIM5P2	CpG island
ENSG00000232889	CpG island
ENSG00000235546	CpG island
ENSG00000266364	CpG island
ENSG00000236504	CpG island
ENSG00000226521	CpG island
ENSG00000226096	CpG island
ENSG00000108443	chromatin interactions

Extended variants
information (count: 2728 )
Associated
traits (count: 153 )

Variant overlapped rSNPs/rCNVs (count:2728 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs540261544	chr17:20498814-20498815	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs564620756	chr17:20498920-20498921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs71240649	chr17:20498982-20498983	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs374982165	chr17:20512932-20512933	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs191725909	chr17:20512944-20512945	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs539061252	chr17:20513037-20513038	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs58880143	chr17:20513041-20513042	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs139492393	chr17:20513062-20513063	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs183018147	chr17:20513066-20513067	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
10	rs368774427	chr17:20513089-20513090	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
11	rs60180821	chr17:20513094-20513095	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs187019848	chr17:20513101-20513102	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
13	rs12939518	chr17:20513151-20513152	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs540883506	chr17:20513157-20513158	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs565628178	chr17:20513183-20513184	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs532783631	chr17:20513229-20513230	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs593332	chr17:20514663-20514664	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs593362	chr17:20514691-20514692	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
19	rs146716676	chr17:20514692-20514693	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
20	rs577385816	chr17:20514711-20514712	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
21	rs140328097	chr17:20514738-20514739	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
22	rs571875192	chr17:20514747-20514748	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
23	rs551804179	chr17:20514767-20514768	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
24	rs145595057	chr17:20514768-20514769	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
25	rs540811596	chr17:20514789-20514790	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
26	rs75139572	chr17:20514805-20514806	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
27	rs200699202	chr17:20514826-20514827	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
28	rs566818495	chr17:20514890-20514891	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
29	rs185543540	chr17:20514912-20514913	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
30	rs17762379	chr17:20514921-20514922	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
31	rs115825026	chr17:20514945-20514946	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
32	rs190066150	chr17:20515020-20515021	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
33	rs74540775	chr17:20515021-20515022	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs543061517	chr17:20515067-20515068	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs529980125	chr17:20515870-20515871	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs533240516	chr17:20515876-20515877	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
37	rs188545217	chr17:20515877-20515878	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
38	rs527691785	chr17:20515882-20515883	Inactive region	TF binding region CpG island	2 gene(s)	Overlapped CNVs	n/a
39	rs535704482	chr17:20516019-20516020	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
40	rs554053315	chr17:20516025-20516026	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs34124153	chr17:20516042-20516043	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs372635459	chr17:20516066-20516067	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs574685373	chr17:20516173-20516174	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs185026795	chr17:20516181-20516182	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs560477975	chr17:20516185-20516186	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
46	rs527667499	chr17:20516189-20516190	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
47	rs545914886	chr17:20516199-20516200	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
48	rs141189429	chr17:20516201-20516202	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
49	rs189326738	chr17:20516209-20516210	Inactive region	CpG island	1 gene(s)	Overlapped CNVs	n/a
50	rs549866258	chr17:20516212-20516213	Inactive region	CpG island	1 gene(s)	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20516800-20517400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:20524400-20524800	Enhancers	Fetal Brain Female	brain
3	chr17:20535000-20540800	Weak transcription	Right Atrium	heart
4	chr17:20536600-20537000	ZNF genes & repeats	Pancreas	Pancrea
5	chr17:20536800-20537400	Active TSS	K562	blood
6	chr17:20537000-20539200	Weak transcription	Pancreas	Pancrea
7	chr17:20539200-20539600	ZNF genes & repeats	Pancreas	Pancrea
8	chr17:20539200-20539600	Enhancers	Spleen	Spleen
9	chr17:20543600-20544200	Enhancers	Liver	Liver
10	chr17:20544000-20544400	Enhancers	Adipose Nuclei	Adipose
11	chr17:20549800-20550200	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:20549800-20550600	Enhancers	Fetal Heart	heart
13	chr17:20550000-20550200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:20550000-20550200	Bivalent/Poised TSS	A549	lung
15	chr17:20550200-20552000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr17:20550400-20553000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr17:20551200-20552600	Enhancers	GM12878-XiMat	blood
18	chr17:20551600-20556400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:20551800-20555800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr17:20552000-20553400	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr17:20552000-20555800	Enhancers	Primary B cells from peripheral blood	blood
22	chr17:20552600-20553000	Flanking Active TSS	GM12878-XiMat	blood
23	chr17:20553000-20553200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:20553000-20556000	Enhancers	GM12878-XiMat	blood
25	chr17:20553200-20554000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr17:20553400-20553800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr17:20553800-20554400	Enhancers	Primary hematopoietic stem cells	blood
28	chr17:20553800-20555600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr17:20554000-20555400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr17:20554000-20555800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr17:20554200-20554600	Enhancers	Primary T cells fromperipheralblood	blood
33	chr17:20554400-20554800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr17:20554800-20555400	Enhancers	Primary hematopoietic stem cells	blood
35	chr17:20555000-20555200	Enhancers	Placenta	Placenta
36	chr17:20556000-20557000	Weak transcription	GM12878-XiMat	blood
37	chr17:20556400-20557000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr17:20557000-20557200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr17:20557000-20557200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:20557000-20557200	Bivalent Enhancer	HSMMtube	muscle
41	chr17:20557000-20557400	Enhancers	GM12878-XiMat	blood
42	chr17:20557200-20557400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr17:20557200-20557600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr17:20557200-20557600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr17:20557200-20557600	Enhancers	HSMMtube	muscle
46	chr17:20557200-20558400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:20557400-20557600	Bivalent Enhancer	Placenta	Placenta
48	chr17:20557400-20557800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr17:20557600-20557800	Enhancers	Lung	lung
50	chr17:20557600-20558200	Enhancers	Placenta	Placenta

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