Variant report

Variant	esv3471543
Chromosome Location	chr5:43665767-43824443
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:43772870-43773244	K562	blood:	n/a	n/a
2	ATF1	chr5:43751044-43751165	K562	blood:	n/a	n/a
3	ATF1	chr5:43769772-43769880	K562	blood:	n/a	n/a
4	ATF1	chr5:43724423-43724424	K562	blood:	n/a	n/a
5	ATF1	chr5:43772830-43773531	K562	blood:	n/a	n/a
6	ATF1	chr5:43804658-43805298	K562	blood:	n/a	n/a
7	ATF1	chr5:43732802-43733256	K562	blood:	n/a	n/a
8	ATF3	chr5:43772777-43773101	K562	blood:	n/a	n/a
9	BACH1	chr5:43683312-43683315	K562	blood:	n/a	n/a
10	BACH1	chr5:43773618-43773897	H1-hESC	embryonic stem cell:	n/a	chr5:43773790-43773804
11	BHLHE40	chr5:43772847-43773159	K562	blood:	n/a	n/a
12	BRCA1	chr5:43772661-43773925	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr5:43696592-43696886	K562	blood:	n/a	n/a
14	CBX3	chr5:43696516-43696911	K562	blood:	n/a	n/a
15	CCNT2	chr5:43772937-43773138	K562	blood:	n/a	n/a
16	CCNT2	chr5:43773407-43773612	K562	blood:	n/a	n/a
17	CEBPB	chr5:43772608-43773268	HCT-116	colon:	n/a	chr5:43772975-43772992
18	CEBPB	chr5:43678850-43679006	H1-hESC	embryonic stem cell:	n/a	chr5:43678902-43678913
19	CEBPB	chr5:43782395-43782728	HepG2	liver:	n/a	chr5:43782557-43782570 chr5:43782558-43782569 chr5:43782557-43782568 chr5:43782559-43782568
20	CEBPB	chr5:43782421-43782745	IMR90	lung:	n/a	chr5:43782557-43782570 chr5:43782558-43782569 chr5:43782557-43782568 chr5:43782559-43782568
21	CEBPB	chr5:43711625-43711938	IMR90	lung:	n/a	n/a
22	CEBPB	chr5:43769577-43770398	IMR90	lung:	n/a	chr5:43770208-43770221 chr5:43769996-43770009
23	CEBPB	chr5:43772677-43773138	IMR90	lung:	n/a	chr5:43772975-43772992
24	CEBPB	chr5:43772808-43773170	K562	blood:	n/a	chr5:43772975-43772992
25	CEBPB	chr5:43711646-43711912	H1-hESC	embryonic stem cell:	n/a	n/a
26	CEBPB	chr5:43782383-43782734	A549	lung:	n/a	chr5:43782557-43782570 chr5:43782558-43782569 chr5:43782557-43782568 chr5:43782559-43782568
27	CEBPB	chr5:43758205-43758306	HepG2	liver:	n/a	chr5:43758252-43758263
28	CEBPB	chr5:43773411-43774083	HCT-116	colon:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
29	CEBPB	chr5:43676688-43676851	A549	lung:	n/a	chr5:43676750-43676761
30	CEBPB	chr5:43773656-43773923	K562	blood:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
31	CEBPB	chr5:43772810-43773150	K562	blood:	n/a	chr5:43772975-43772992
32	CEBPB	chr5:43768388-43768647	IMR90	lung:	n/a	chr5:43768501-43768510 chr5:43768500-43768511
33	CEBPB	chr5:43773668-43773997	ECC-1	luminal epithelium:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
34	CEBPB	chr5:43676664-43676901	HepG2	liver:	n/a	chr5:43676750-43676761
35	CEBPB	chr5:43768422-43768675	HepG2	liver:	n/a	chr5:43768501-43768510 chr5:43768500-43768511
36	CEBPB	chr5:43773629-43773893	A549	lung:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
37	CEBPB	chr5:43773715-43773882	K562	blood:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
38	CEBPB	chr5:43773625-43773993	H1-hESC	embryonic stem cell:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
39	CEBPB	chr5:43678901-43678965	HepG2	liver:	n/a	chr5:43678902-43678913
40	CEBPB	chr5:43772668-43773266	HCT-116	colon:	n/a	chr5:43772975-43772992
41	CEBPB	chr5:43768405-43768634	A549	lung:	n/a	chr5:43768501-43768510 chr5:43768500-43768511
42	CEBPB	chr5:43772851-43773026	H1-hESC	embryonic stem cell:	n/a	chr5:43772975-43772992
43	CEBPB	chr5:43773579-43774035	A549	lung:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
44	CEBPB	chr5:43798894-43799190	IMR90	lung:	n/a	chr5:43799028-43799041 chr5:43799028-43799039
45	CEBPB	chr5:43773380-43774013	IMR90	lung:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
46	CEBPB	chr5:43773677-43773968	A549	lung:	n/a	chr5:43773812-43773823 chr5:43773812-43773825
47	CEBPB	chr5:43799000-43799065	A549	lung:	n/a	chr5:43799028-43799041 chr5:43799028-43799039
48	CEBPB	chr5:43694093-43694258	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:43772766-43773154	K562	blood:	n/a	chr5:43772975-43772992
50	CEBPB	chr5:43676590-43676921	IMR90	lung:	n/a	chr5:43676750-43676761

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:43714708-43714758	NHDF-neo	bronchial:	n/a
2	chr5:43714708-43714758	NHDF-neo	bronchial:	n/a
3	chr5:43772975-43773025	AG09319	gingival:	n/a
4	chr5:43781155-43781205	HRPEpiC	eye:	n/a
5	chr5:43714708-43714758	HRCEpiC	kidney:	n/a
6	chr5:43714708-43714758	AG09309	skin:	n/a
7	chr5:43772975-43773025	IMR90	lung:	fetal
8	chr5:43772975-43773025	HRE	kidney:	n/a
9	chr5:43714708-43714758	HMEC	breast:	n/a
10	chr5:43802496-43802546	AG09309	skin:	n/a
11	chr5:43714708-43714758	ovcar-3	ovarian:	n/a
12	chr5:43781155-43781205	RPTEC	kidney:	n/a
13	chr5:43714708-43714758	Jurkat	blood:	n/a
14	chr5:43781155-43781205	HRCEpiC	kidney:	n/a
15	chr5:43781155-43781205	HCF	heart:	n/a
16	chr5:43772975-43773025	U87	brain:	n/a
17	chr5:43781155-43781205	Jurkat	blood:	n/a
18	chr5:43802496-43802546	Hela-S3	cervix:	n/a
19	chr5:43731068-43731118	HRPEpiC	eye:	n/a
20	chr5:43781155-43781205	NT2-D1	testis:	n/a
21	chr5:43802496-43802546	AG04449	skin:	fetal
22	chr5:43781155-43781205	AoSMC	blood vessel:	n/a
23	chr5:43714708-43714758	NH-A	brain:	n/a
24	chr5:43802496-43802546	NH-A	brain:	n/a
25	chr5:43731068-43731118	NT2-D1	testis:	n/a
26	chr5:43772975-43773025	SAEC	small airway:	n/a
27	chr5:43731068-43731118	NHBE	bronchial:	n/a
28	chr5:43772975-43773025	HRCEpiC	kidney:	n/a
29	chr5:43781155-43781205	IMR90	lung:	fetal
30	chr5:43714708-43714758	GM12892	blood:	n/a
31	chr5:43781155-43781205	HCM	heart:	n/a
32	chr5:43731068-43731118	NH-A	brain:	n/a
33	chr5:43781155-43781205	GM06990	blood:	n/a
34	chr5:43731068-43731118	HRCEpiC	kidney:	n/a
35	chr5:43772975-43773025	ProgFib	skin:	n/a
36	chr5:43802496-43802546	H1-hESC	embryonic stem cell:	embryo
37	chr5:43781155-43781205	GM19239	blood:	n/a
38	chr5:43802496-43802546	T-47D	breast:	n/a
39	chr5:43772975-43773025	HPAEpiC	pulmonary alveolar:	n/a
40	chr5:43802496-43802546	HepG2	liver:	n/a
41	chr5:43714708-43714758	MCF10A-Er-Src	breast:	n/a
42	chr5:43802496-43802546	U87	brain:	n/a
43	chr5:43731068-43731118	AG04449	skin:	fetal
44	chr5:43772975-43773025	Hela-S3	cervix:	n/a
45	chr5:43802496-43802546	PANC-1	pancreas:	n/a
46	chr5:43714708-43714758	HCT-116	colon:	n/a
47	chr5:43731068-43731118	HepG2	liver:	n/a
48	chr5:43772975-43773025	LNCaP	prostate:	n/a
49	chr5:43731068-43731118	BJ	skin:	n/a
50	chr5:43802496-43802546	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:
2	chr5:43699359..43701874-chr5:43702019..43704715,3	K562	blood:
3	chr5:43727751..43730594-chr5:43738009..43740289,2	K562	blood:
4	chr5:43727478..43730594-chr5:43737111..43740729,4	K562	blood:
5	chr5:43702507..43704578-chr5:43708855..43710724,2	K562	blood:
6	chr5:43693849..43696820-chr5:43701350..43704345,2	K562	blood:
7	chr5:43783392..43784913-chr5:43786417..43788258,2	K562	blood:
8	chr5:43685428..43688401-chr5:43696316..43698976,2	K562	blood:
9	chr19:38755054..38756929-chr5:43681185..43682707,2	MCF-7	breast:
10	chr5:43729712..43730620-chr5:44774057..44774967,2	K562	blood:
11	chr5:43729725..43730602-chr5:44332188..44332972,5	MCF-7	breast:
12	chr5:43783392..43784913-chr5:43786417..43788258,2	K562	blood:
13	chr5:43687575..43690039-chr5:43693394..43695374,2	K562	blood:
14	chr5:43727478..43730594-chr5:43737111..43740729,4	K562	blood:
15	chr5:43693849..43696820-chr5:43701350..43704345,2	K562	blood:
16	chr10:111498622..111499388-chr5:43700300..43700829,2	MCF-7	breast:
17	chr5:43702507..43704578-chr5:43708855..43710724,2	K562	blood:
18	chr5:43765226..43767816-chr5:43768359..43770283,2	K562	blood:
19	chr5:43699359..43701874-chr5:43702019..43704715,3	K562	blood:
20	chr5:43706278..43710005-chr5:43710732..43713947,4	K562	blood:
21	chr5:43708302..43711548-chr5:43712823..43716429,4	K562	blood:
22	chr5:43685428..43688401-chr5:43696316..43698976,2	K562	blood:
23	chr5:43708302..43711548-chr5:43712823..43716429,4	K562	blood:
24	chr5:43685066..43687445-chr5:43687675..43690226,2	K562	blood:
25	chr5:43687575..43690039-chr5:43693394..43695374,2	K562	blood:
26	chr5:43685066..43687445-chr5:43687675..43690226,2	K562	blood:
27	chr5:43706278..43710005-chr5:43710732..43713947,4	K562	blood:
28	chr5:43727751..43730594-chr5:43738009..43740289,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAIP1-3	chr5:43666868-43667334	NONHSAT101328
2	lnc-PAIP1-3	chr5:43666867-43667334	NONHSAT101327

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	NNT	hsa-miR-335-5p	chr5:43704593-43704614
2	NNT	hsa-miR-29b-3p	chr5:43705514-43705537

Variant related genes	Relation type
NNT	TF binding region
RPL29P12	TF binding region
NNT	CpG island
RPL29P12	CpG island
ENSG00000167642	chromatin interactions

Extended variants
information (count: 4799 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:4799 , 50 per page) page: 1 2 3 4 5 6 7 ... 96

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190508934	chr5:43665788-43665789	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs367940605	chr5:43665797-43665798	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs180919071	chr5:43665807-43665808	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183612441	chr5:43665812-43665813	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542431059	chr5:43665813-43665814	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562230217	chr5:43665819-43665820	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs188277629	chr5:43665834-43665835	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111320166	chr5:43665840-43665841	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs527875571	chr5:43665842-43665843	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573031514	chr5:43665859-43665860	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541776618	chr5:43665860-43665861	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs182403200	chr5:43665867-43665868	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181411788	chr5:43665871-43665872	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79775976	chr5:43665881-43665882	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186455455	chr5:43665896-43665897	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532171330	chr5:43665898-43665899	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113752239	chr5:43665929-43665930	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190070135	chr5:43665930-43665931	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181651070	chr5:43665933-43665934	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs531277100	chr5:43665946-43665947	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561776903	chr5:43665975-43665976	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111308051	chr5:43665987-43665988	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567947882	chr5:43666012-43666013	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190709246	chr5:43666015-43666016	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533715392	chr5:43666023-43666024	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547333902	chr5:43666038-43666039	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs529084748	chr5:43666050-43666051	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs570614944	chr5:43666061-43666062	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539824916	chr5:43666062-43666063	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369814818	chr5:43666063-43666064	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62367653	chr5:43666064-43666065	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs111571209	chr5:43666065-43666066	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555879422	chr5:43666069-43666070	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183214602	chr5:43666095-43666096	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541636507	chr5:43666098-43666099	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564777101	chr5:43666104-43666105	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs578147974	chr5:43666106-43666107	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545802288	chr5:43666111-43666112	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs185220735	chr5:43666132-43666133	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531321159	chr5:43666133-43666134	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189645899	chr5:43666140-43666141	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs372485254	chr5:43666143-43666144	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs561444094	chr5:43666147-43666148	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527523135	chr5:43666172-43666173	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs547143163	chr5:43666173-43666174	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570746087	chr5:43666179-43666180	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539321890	chr5:43666184-43666185	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550033955	chr5:43666206-43666207	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569980194	chr5:43666221-43666222	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535848860	chr5:43666223-43666224	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Lung cancer	21569311	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1197 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43621800-43667400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr5:43642800-43665800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr5:43643400-43665800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr5:43644800-43666400	Strong transcription	Primary B cells from peripheral blood	blood
5	chr5:43650200-43685400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr5:43650400-43665800	Weak transcription	Colonic Mucosa	Colon
7	chr5:43650600-43673000	Weak transcription	Right Ventricle	heart
8	chr5:43650800-43673200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:43650800-43676200	Weak transcription	Brain Anterior Caudate	brain
10	chr5:43651000-43665800	Weak transcription	Placenta	Placenta
11	chr5:43651800-43666400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:43652200-43666000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr5:43653000-43675600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:43653400-43665800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:43653400-43674200	Weak transcription	HSMMtube	muscle
16	chr5:43657000-43668400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:43657000-43674400	Weak transcription	Pancreas	Pancrea
18	chr5:43657600-43676200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr5:43657600-43695200	Weak transcription	K562	blood
20	chr5:43658600-43665800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr5:43659400-43696800	Weak transcription	Gastric	stomach
22	chr5:43659600-43675400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr5:43659600-43678200	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:43659600-43680400	Weak transcription	Psoas Muscle	Psoas
25	chr5:43659600-43706200	Weak transcription	Small Intestine	intestine
26	chr5:43659600-43710000	Weak transcription	Ovary	ovary
27	chr5:43659800-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:43659800-43665800	Weak transcription	Fetal Intestine Small	intestine
29	chr5:43660000-43665800	Weak transcription	Brain Germinal Matrix	brain
30	chr5:43660000-43685600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:43660200-43684800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr5:43660800-43666400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr5:43661000-43665800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr5:43661000-43665800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:43661000-43665800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr5:43661000-43665800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:43661000-43665800	Weak transcription	Fetal Intestine Large	intestine
38	chr5:43661000-43665800	Weak transcription	Fetal Stomach	stomach
39	chr5:43661000-43665800	Weak transcription	Lung	lung
40	chr5:43661000-43665800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr5:43661000-43665800	Weak transcription	Thymus	Thymus
42	chr5:43661000-43665800	Weak transcription	Spleen	Spleen
43	chr5:43661000-43666000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:43661000-43666000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:43661000-43666000	Weak transcription	Aorta	Aorta
46	chr5:43661000-43666200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:43661000-43666200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:43661000-43666200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr5:43661000-43673200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr5:43661000-43675600	Weak transcription	Primary T cells from cord blood	blood

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