Variant report

Variant	nsv1056224
Chromosome Location	chr17:19946604-19993026
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:513)
CpG islands
(count:793)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:513 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr17:19963102-19963433	K562	blood:	n/a	n/a
2	ATF3	chr17:19967061-19967911	A549	lung:	n/a	n/a
3	ATF3	chr17:19989720-19989944	K562	blood:	n/a	n/a
4	ATF3	chr17:19969441-19970014	A549	lung:	n/a	n/a
5	ATF3	chr17:19966832-19967900	A549	lung:	n/a	n/a
6	BACH1	chr17:19992466-19992473	K562	blood:	n/a	n/a
7	BACH1	chr17:19963064-19963495	K562	blood:	n/a	n/a
8	BACH1	chr17:19967609-19967801	H1-hESC	embryonic stem cell:	n/a	chr17:19967640-19967654
9	BATF	chr17:19963071-19963415	GM12878	blood:	n/a	chr17:19963216-19963227
10	BATF	chr17:19967378-19967754	GM12878	blood:	n/a	chr17:19967620-19967628
11	BATF	chr17:19966863-19967096	GM12878	blood:	n/a	n/a
12	BATF	chr17:19963017-19963400	GM12878	blood:	n/a	chr17:19963216-19963227
13	BCL3	chr17:19966776-19968181	A549	lung:	n/a	chr17:19967643-19967652 chr17:19967642-19967651 chr17:19967285-19967294
14	BCL3	chr17:19966728-19967940	A549	lung:	n/a	chr17:19967643-19967652 chr17:19967642-19967651 chr17:19967285-19967294
15	BHLHE40	chr17:19977155-19977165	K562	blood:	n/a	n/a
16	BHLHE40	chr17:19963048-19963388	K562	blood:	n/a	n/a
17	BHLHE40	chr17:19967449-19967816	GM12878	blood:	n/a	n/a
18	BHLHE40	chr17:19981399-19981679	GM12878	blood:	n/a	n/a
19	BRCA1	chr17:19966829-19967649	Hela-S3	cervix:	n/a	chr17:19967166-19967173
20	CBX3	chr17:19962970-19963510	K562	blood:	n/a	n/a
21	CBX3	chr17:19956856-19957270	K562	blood:	n/a	n/a
22	CCNT2	chr17:19963142-19963357	K562	blood:	n/a	n/a
23	CEBPB	chr17:19967500-19967755	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPB	chr17:19977397-19977746	A549	lung:	n/a	n/a
25	CEBPB	chr17:19967280-19967808	IMR90	lung:	n/a	n/a
26	CEBPB	chr17:19956925-19957177	IMR90	lung:	n/a	chr17:19957064-19957075
27	CEBPB	chr17:19956982-19957223	H1-hESC	embryonic stem cell:	n/a	chr17:19957064-19957075
28	CEBPB	chr17:19976727-19977036	K562	blood:	n/a	n/a
29	CEBPB	chr17:19964797-19964989	A549	lung:	n/a	n/a
30	CEBPB	chr17:19967250-19967807	A549	lung:	n/a	n/a
31	CEBPB	chr17:19977475-19977675	HepG2	liver:	n/a	n/a
32	CEBPB	chr17:19986566-19987181	Hela-S3	cervix:	n/a	n/a
33	CEBPB	chr17:19966990-19967863	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr17:19956950-19957150	HepG2	liver:	n/a	chr17:19957064-19957075
35	CEBPB	chr17:19986772-19987297	A549	lung:	n/a	n/a
36	CEBPB	chr17:19963013-19963385	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr17:19986811-19987160	IMR90	lung:	n/a	n/a
38	CEBPB	chr17:19977414-19977730	IMR90	lung:	n/a	n/a
39	CEBPB	chr17:19986818-19987165	A549	lung:	n/a	n/a
40	CEBPB	chr17:19956891-19957255	K562	blood:	n/a	chr17:19957064-19957075
41	CEBPB	chr17:19967177-19967853	HCT-116	colon:	n/a	n/a
42	CEBPB	chr17:19957003-19957201	K562	blood:	n/a	chr17:19957064-19957075
43	CEBPB	chr17:19986864-19987129	HepG2	liver:	n/a	n/a
44	CEBPB	chr17:19967420-19967731	MCF-7	breast:	n/a	n/a
45	CEBPB	chr17:19966772-19968038	A549	lung:	n/a	n/a
46	CEBPB	chr17:19956882-19957246	K562	blood:	n/a	chr17:19957064-19957075
47	CEBPB	chr17:19956920-19957225	A549	lung:	n/a	chr17:19957064-19957075
48	CEBPB	chr17:19963058-19963354	K562	blood:	n/a	n/a
49	CEBPB	chr17:19956934-19957233	Hela-S3	cervix:	n/a	chr17:19957064-19957075
50	CEBPB	chr17:19967571-19967742	K562	blood:	n/a	n/a

(count:793 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:19989722-19989772	SKMC	muscle:	n/a
2	chr17:19977156-19977206	PrEC	prostate:	n/a
3	chr17:19967600-19967650	BJ	skin:	n/a
4	chr17:19976820-19976870	HMEC	breast:	n/a
5	chr17:19957951-19958001	SK-N-SH	brain:	n/a
6	chr17:19989186-19989236	HCM	heart:	n/a
7	chr17:19976888-19976938	AG09319	gingival:	n/a
8	chr17:19989722-19989772	ProgFib	skin:	n/a
9	chr17:19977025-19977075	AG04449	skin:	fetal
10	chr17:19958833-19958883	PANC-1	pancreas:	n/a
11	chr17:19976888-19976938	U87	brain:	n/a
12	chr17:19977025-19977075	HepG2	liver:	n/a
13	chr17:19989722-19989772	SK-N-SH_RA	brain:	n/a
14	chr17:19976569-19976619	AG10803	skin:	n/a
15	chr17:19957951-19958001	IMR90	lung:	fetal
16	chr17:19976820-19976870	NT2-D1	testis:	n/a
17	chr17:19957951-19958001	GM12892	blood:	n/a
18	chr17:19977156-19977206	H1-hESC	embryonic stem cell:	embryo
19	chr17:19976569-19976619	HRPEpiC	eye:	n/a
20	chr17:19977156-19977206	U87	brain:	n/a
21	chr17:19977025-19977075	PANC-1	pancreas:	n/a
22	chr17:19977025-19977075	BJ	skin:	n/a
23	chr17:19967600-19967650	HAEpiC	amniotic membrane:	n/a
24	chr17:19976435-19976485	ECC-1	luminal epithelium:	n/a
25	chr17:19989722-19989772	GM12878	blood:	n/a
26	chr17:19977025-19977075	PrEC	prostate:	n/a
27	chr17:19957951-19958001	RPTEC	kidney:	n/a
28	chr17:19976435-19976485	AG04450	lung:	fetal
29	chr17:19977156-19977206	HCPEpiC	choroid plexus:	n/a
30	chr17:19989722-19989772	NB4	blood:	n/a
31	chr17:19989186-19989236	HAEpiC	amniotic membrane:	n/a
32	chr17:19967600-19967650	GM19239	blood:	n/a
33	chr17:19958833-19958883	AG04449	skin:	fetal
34	chr17:19976569-19976619	HCM	heart:	n/a
35	chr17:19990302-19990352	PANC-1	pancreas:	n/a
36	chr17:19976435-19976485	HMEC	breast:	n/a
37	chr17:19976888-19976938	NT2-D1	testis:	n/a
38	chr17:19957951-19958001	HCT-116	colon:	n/a
39	chr17:19976820-19976870	RPTEC	kidney:	n/a
40	chr17:19958833-19958883	GM12878	blood:	n/a
41	chr17:19989186-19989236	HCT-116	colon:	n/a
42	chr17:19989722-19989772	AG10803	skin:	n/a
43	chr17:19989115-19989165	K562	blood:	n/a
44	chr17:19977025-19977075	HEEpiC	esophagus:	n/a
45	chr17:19989186-19989236	BJ	skin:	n/a
46	chr17:19990302-19990352	SK-N-MC	brain:	n/a
47	chr17:19990302-19990352	Hepatocyte	liver:	n/a
48	chr17:19976888-19976938	HL-60	blood:	n/a
49	chr17:19957951-19958001	ProgFib	skin:	n/a
50	chr17:19976435-19976485	NHBE	bronchial:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:19980691..19982440-chr17:19988864..19991537,2	K562	blood:
2	chr17:19937388..19940075-chr17:19983196..19985381,2	K562	blood:
3	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:
4	chr17:19991773..19994998-chr2:209032034..209035004,3	K562	blood:
5	chr17:19991747..19994521-chr2:209032147..209035018,4	K562	blood:
6	chr17:19957156..19957918-chr17:21191377..21192085,2	Hela-S3	cervix:
7	chr17:19968366..19971669-chr17:19975346..19978393,3	MCF-7	breast:
8	chr17:19957236..19958763-chr17:19963646..19966262,2	K562	blood:
9	chr17:19911303..19913240-chr17:19956508..19959161,2	K562	blood:
10	chr17:19880813..19883681-chr17:19988880..19990706,2	MCF-7	breast:
11	chr17:19957236..19958763-chr17:19963646..19966262,2	K562	blood:
12	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:
13	chr17:19969588..19972096-chr17:19993265..19995045,2	K562	blood:
14	chr17:19980057..19981963-chr17:19993152..19995446,2	K562	blood:
15	chr17:19945642..19947610-chr17:19953431..19955992,2	MCF-7	breast:
16	chr17:19987801..19990549-chr17:19990634..19992349,2	MCF-7	breast:
17	chr17:19945642..19947610-chr17:19953431..19955992,2	MCF-7	breast:
18	chr17:19977490..19979191-chr17:19979596..19981343,3	K562	blood:
19	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:
20	chr17:19950835..19953752-chr17:19957285..19959162,2	K562	blood:
21	chr17:19977490..19979005-chr17:19979596..19981343,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC144C-5	chr17:19959600-19959943	NONHSAT146540

No data

Variant related genes	Relation type
SPECC1	TF binding region
ENSG00000225681	TF binding region
SPECC1	CpG island
ENSG00000225681	CpG island
ENSG00000108599	chromatin interactions
ENSG00000128487	chromatin interactions
ENSG00000261033	chromatin interactions

Extended variants
information (count: 1837 )
Associated
traits (count: 152 )

Variant overlapped rSNPs/rCNVs (count:1837 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552672410	chr17:19946629-19946630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575249110	chr17:19946633-19946634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140962209	chr17:19946638-19946639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535048129	chr17:19946649-19946650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376000004	chr17:19946666-19946667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs35337632	chr17:19946704-19946705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568385513	chr17:19946759-19946760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536945056	chr17:19946771-19946772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs8066256	chr17:19946797-19946798	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs188106503	chr17:19946798-19946799	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs545514984	chr17:19946818-19946819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150187804	chr17:19946851-19946852	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572835343	chr17:19946854-19946855	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs36012240	chr17:19946877-19946878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192390137	chr17:19946881-19946882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs561522833	chr17:19946948-19946949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs370315897	chr17:19947080-19947081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs530421696	chr17:19947100-19947101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184354962	chr17:19947146-19947147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs145778473	chr17:19947200-19947201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs538252867	chr17:19947222-19947223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532727128	chr17:19947239-19947240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552784864	chr17:19947249-19947250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs544154108	chr17:19947255-19947256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560943679	chr17:19947262-19947263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs62067482	chr17:19947275-19947276	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs377388228	chr17:19947283-19947284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9914328	chr17:19947289-19947290	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs535950065	chr17:19947312-19947313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548611240	chr17:19947321-19947322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs568317667	chr17:19947380-19947381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34066038	chr17:19947476-19947477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536963948	chr17:19947491-19947492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534678732	chr17:19947493-19947494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs368364664	chr17:19947499-19947500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs570390035	chr17:19947501-19947502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs144799971	chr17:19947536-19947537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114803423	chr17:19947546-19947547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs34173912	chr17:19947569-19947570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572939047	chr17:19947570-19947571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs186719740	chr17:19947615-19947616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs138632084	chr17:19947627-19947628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141858290	chr17:19947637-19947638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192624262	chr17:19947675-19947676	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564001093	chr17:19947678-19947679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs7221669	chr17:19947689-19947690	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs546462222	chr17:19947690-19947691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528259148	chr17:19947699-19947700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs559690148	chr17:19947719-19947720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs528589739	chr17:19947743-19947744	Weak transcription Enhancers	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
Urothelial carcinoma	21177765	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
Colorectal cancer	16774939	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
Autism	22543975	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:867 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19923400-19956600	Weak transcription	A549	lung
2	chr17:19926400-19947000	Weak transcription	Brain Angular Gyrus	brain
3	chr17:19932000-19956800	Weak transcription	Ovary	ovary
4	chr17:19942800-19950400	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:19943800-19965800	Weak transcription	Aorta	Aorta
6	chr17:19944000-19947200	Weak transcription	Brain Substantia Nigra	brain
7	chr17:19944000-19950000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr17:19945400-19947000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:19945600-19946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr17:19945600-19947000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:19945800-19956000	Weak transcription	K562	blood
12	chr17:19946000-19947000	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:19946000-19947000	Enhancers	Fetal Thymus	thymus
14	chr17:19946000-19947400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr17:19946000-19947800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:19946200-19946800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr17:19946200-19947000	Enhancers	Primary hematopoietic stem cells	blood
18	chr17:19946400-19946800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr17:19946400-19947000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr17:19946400-19947000	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr17:19946400-19947200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr17:19946400-19947200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr17:19946600-19946800	Enhancers	Monocytes-CD14+_RO01746	blood
24	chr17:19946800-19947400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:19947000-19948200	Enhancers	Brain Angular Gyrus	brain
26	chr17:19947000-19948600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr17:19947000-19948800	Weak transcription	Fetal Thymus	thymus
28	chr17:19947000-19953000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr17:19947200-19947800	Enhancers	Brain Hippocampus Middle	brain
30	chr17:19947200-19948200	Enhancers	Brain Anterior Caudate	brain
31	chr17:19947200-19948600	Enhancers	Brain Substantia Nigra	brain
32	chr17:19947400-19949000	Enhancers	Brain Cingulate Gyrus	brain
33	chr17:19947800-19948600	Weak transcription	Brain Hippocampus Middle	brain
34	chr17:19947800-19948800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:19948200-19966400	Weak transcription	Brain Angular Gyrus	brain
36	chr17:19948600-19948800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:19948600-19948800	Enhancers	Brain Hippocampus Middle	brain
38	chr17:19948800-19949400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr17:19948800-19949600	Enhancers	Fetal Thymus	thymus
40	chr17:19949400-19953200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr17:19949800-19950600	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr17:19950000-19950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr17:19950000-19950200	Enhancers	Left Ventricle	heart
44	chr17:19950000-19950400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr17:19950000-19950400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr17:19950000-19950400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr17:19950000-19950400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:19950000-19950600	Enhancers	H9 Cell Line	embryonic stem cell
49	chr17:19950000-19950600	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr17:19950000-19950800	Enhancers	H1 Cell Line	embryonic stem cell

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