Variant report

Variant	esv1810679
Chromosome Location	chr5:14138248-14145135
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:883)
CpG islands
(count:549)
Chromatin interactive
region (count:30)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:883 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr5:14141912-14142259	HepG2	liver:	n/a	n/a
2	ARID3A	chr5:14144938-14144966	HepG2	liver:	n/a	n/a
3	ARID3A	chr5:14143077-14143562	HepG2	liver:	n/a	n/a
4	ATF2	chr5:14145080-14145609	GM12878	blood:	n/a	n/a
5	ATF2	chr5:14145113-14145535	GM12878	blood:	n/a	n/a
6	BACH1	chr5:14144398-14144990	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr5:14143037-14143597	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr5:14142882-14143398	A549	lung:	n/a	n/a
9	BCL3	chr5:14145114-14145573	A549	lung:	n/a	chr5:14145205-14145218
10	BCL3	chr5:14143018-14143673	GM12878	blood:	n/a	chr5:14143604-14143613 chr5:14143475-14143488 chr5:14143474-14143487
11	BCLAF1	chr5:14145114-14145577	GM12878	blood:	n/a	chr5:14145205-14145218
12	BCLAF1	chr5:14143992-14144718	GM12878	blood:	n/a	chr5:14144181-14144194 chr5:14144351-14144360 chr5:14144106-14144119 chr5:14144200-14144213 chr5:14144185-14144198
13	BCLAF1	chr5:14142614-14143373	GM12878	blood:	n/a	n/a
14	BCLAF1	chr5:14145089-14145716	GM12878	blood:	n/a	chr5:14145205-14145218
15	BHLHE40	chr5:14142567-14143793	GM12878	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
16	BHLHE40	chr5:14144461-14145538	GM12878	blood:	n/a	n/a
17	BHLHE40	chr5:14143205-14143641	K562	blood:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
18	BHLHE40	chr5:14142954-14143608	HepG2	liver:	n/a	chr5:14143474-14143490 chr5:14143558-14143574 chr5:14143567-14143583
19	BHLHE40	chr5:14144767-14144982	HepG2	liver:	n/a	n/a
20	BRCA1	chr5:14144776-14145869	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr5:14144821-14145058	H1-hESC	embryonic stem cell:	n/a	n/a
22	BRCA1	chr5:14144368-14144402	GM12878	blood:	n/a	n/a
23	BRCA1	chr5:14143174-14143429	GM12878	blood:	n/a	n/a
24	BRCA1	chr5:14144817-14145106	GM12878	blood:	n/a	n/a
25	BRCA1	chr5:14142760-14143520	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr5:14144788-14145070	HepG2	liver:	n/a	n/a
27	BRCA1	chr5:14142782-14143164	H1-hESC	embryonic stem cell:	n/a	n/a
28	CBX3	chr5:14142880-14143279	K562	blood:	n/a	n/a
29	CCNT2	chr5:14143883-14144187	K562	blood:	n/a	n/a
30	CCNT2	chr5:14142989-14143647	K562	blood:	n/a	chr5:14143427-14143436 chr5:14143278-14143287 chr5:14143273-14143282
31	CEBPB	chr5:14143007-14143569	Hela-S3	cervix:	n/a	n/a
32	CHD1	chr5:14142902-14143644	GM12878	blood:	n/a	chr5:14143427-14143437
33	CHD1	chr5:14142844-14143368	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD1	chr5:14145102-14146013	GM12878	blood:	n/a	n/a
35	CHD1	chr5:14144011-14144890	GM12878	blood:	n/a	chr5:14144154-14144164
36	CHD1	chr5:14143996-14144685	H1-hESC	embryonic stem cell:	n/a	chr5:14144154-14144164
37	CHD2	chr5:14144759-14145054	H1-hESC	embryonic stem cell:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
38	CHD2	chr5:14143917-14144094	GM12878	blood:	n/a	n/a
39	CHD2	chr5:14142989-14143503	H1-hESC	embryonic stem cell:	n/a	chr5:14143427-14143437
40	CHD2	chr5:14143387-14143586	K562	blood:	n/a	chr5:14143427-14143437
41	CHD2	chr5:14142652-14142654	HepG2	liver:	n/a	n/a
42	CHD2	chr5:14144407-14145687	GM12878	blood:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
43	CHD2	chr5:14142952-14145681	Hela-S3	cervix:	n/a	chr5:14144154-14144164 chr5:14144921-14144931 chr5:14143427-14143437 chr5:14144974-14144984
44	CHD2	chr5:14144549-14145167	HepG2	liver:	n/a	chr5:14144921-14144931 chr5:14144974-14144984
45	CHD2	chr5:14142639-14143568	GM12878	blood:	n/a	chr5:14143427-14143437
46	CHD2	chr5:14143136-14143547	HepG2	liver:	n/a	chr5:14143427-14143437
47	CREB1	chr5:14143832-14144501	A549	lung:	n/a	n/a
48	CREB1	chr5:14142798-14143335	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr5:14144665-14145100	A549	lung:	n/a	n/a
50	CREB1	chr5:14142760-14143466	H1-hESC	embryonic stem cell:	n/a	n/a

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:14143304-14143354	NB4	blood:	n/a
2	chr5:14144123-14144173	BE2_C	brain:	n/a
3	chr5:14143221-14143271	HIPEpiC	eye:	n/a
4	chr5:14144123-14144173	U87	brain:	n/a
5	chr5:14144123-14144173	MCF10A-Er-Src	breast:	n/a
6	chr5:14140016-14140066	MCF10A-Er-Src	breast:	n/a
7	chr5:14143221-14143271	AG09309	skin:	n/a
8	chr5:14142909-14142959	GM12878	blood:	n/a
9	chr5:14142574-14142624	HCPEpiC	choroid plexus:	n/a
10	chr5:14144769-14144819	IMR90	lung:	fetal
11	chr5:14140016-14140066	SK-N-SH_RA	brain:	n/a
12	chr5:14144769-14144819	SKMC	muscle:	n/a
13	chr5:14142574-14142624	H1-hESC	embryonic stem cell:	embryo
14	chr5:14144123-14144173	RPTEC	kidney:	n/a
15	chr5:14144769-14144819	H1-hESC	embryonic stem cell:	embryo
16	chr5:14140016-14140066	PrEC	prostate:	n/a
17	chr5:14142909-14142959	RPTEC	kidney:	n/a
18	chr5:14142909-14142959	HUVEC	blood vessel:	n/a
19	chr5:14144425-14144475	H1-hESC	embryonic stem cell:	embryo
20	chr5:14144425-14144475	AG10803	skin:	n/a
21	chr5:14143207-14143257	Caco-2	colon:	n/a
22	chr5:14144123-14144173	ProgFib	skin:	n/a
23	chr5:14144123-14144173	PrEC	prostate:	n/a
24	chr5:14142909-14142959	HMEC	breast:	n/a
25	chr5:14144425-14144475	LNCaP	prostate:	n/a
26	chr5:14144425-14144475	AG04449	skin:	fetal
27	chr5:14143221-14143271	NHDF-neo	bronchial:	n/a
28	chr5:14143207-14143257	NHBE	bronchial:	n/a
29	chr5:14143221-14143271	CMK	blood:	n/a
30	chr5:14142909-14142959	MCF10A-Er-Src	breast:	n/a
31	chr5:14144123-14144173	IMR90	lung:	fetal
32	chr5:14144769-14144819	HRCEpiC	kidney:	n/a
33	chr5:14142574-14142624	Jurkat	blood:	n/a
34	chr5:14142909-14142959	HCF	heart:	n/a
35	chr5:14144123-14144173	AG10803	skin:	n/a
36	chr5:14142574-14142624	SK-N-SH	brain:	n/a
37	chr5:14144123-14144173	BJ	skin:	n/a
38	chr5:14142909-14142959	HCT-116	colon:	n/a
39	chr5:14140016-14140066	HMEC	breast:	n/a
40	chr5:14144123-14144173	ECC-1	luminal epithelium:	n/a
41	chr5:14142574-14142624	SK-N-SH_RA	brain:	n/a
42	chr5:14140016-14140066	AG09319	gingival:	n/a
43	chr5:14144425-14144475	HL-60	blood:	n/a
44	chr5:14142909-14142959	HL-60	blood:	n/a
45	chr5:14142574-14142624	HEK293	kidney:	embryo
46	chr5:14144425-14144475	U87	brain:	n/a
47	chr5:14143221-14143271	Hela-S3	cervix:	n/a
48	chr5:14144425-14144475	ovcar-3	ovarian:	n/a
49	chr5:14142574-14142624	AG10803	skin:	n/a
50	chr5:14140016-14140066	GM06990	blood:	n/a

(count:30 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:14144373..14146199-chr5:14161093..14165052,4	MCF-7	breast:
2	chr5:14143682..14146659-chr5:14664431..14666395,2	MCF-7	breast:
3	chr5:14108955..14110468-chr5:14136872..14139443,2	MCF-7	breast:
4	chr5:14137088..14139835-chr5:14145665..14149536,3	K562	blood:
5	chr17:73150132..73150671-chr5:14143178..14143957,2	Hela-S3	cervix:
6	chr5:14142419..14144574-chr9:37118842..37121791,2	MCF-7	breast:
7	chr15:89630646..89631439-chr5:14143493..14144363,2	Hela-S3	cervix:
8	chr5:14071467..14073909-chr5:14141543..14143716,2	MCF-7	breast:
9	chr11:58345501..58346207-chr5:14143065..14143693,2	Hela-S3	cervix:
10	chr5:14124081..14127705-chr5:14135648..14138773,3	MCF-7	breast:
11	chr5:14130852..14132491-chr5:14136393..14139228,2	K562	blood:
12	chr5:14038625..14041719-chr5:14138385..14140272,3	MCF-7	breast:
13	chr4:169278815..169279321-chr5:14144606..14145455,2	MCF-7	breast:
14	chr5:14142354..14143390-chr5:14269900..14270893,3	MCF-7	breast:
15	chr5:14139699..14141424-chr5:14213975..14216525,2	MCF-7	breast:
16	chr17:4634523..4635103-chr5:14143457..14144055,2	Hela-S3	cervix:
17	chr17:57784335..57785018-chr5:14144857..14145636,2	Hela-S3	cervix:
18	chr3:57583020..57583930-chr5:14143322..14144316,2	Hela-S3	cervix:
19	chr17:59476086..59478200-chr5:14142004..14143977,2	MCF-7	breast:
20	chr5:14143107..14145345-chr5:14183034..14185852,4	MCF-7	breast:
21	chr5:14136740..14140790-chr5:14141887..14145230,4	K562	blood:
22	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
23	chr5:14135449..14138920-chr5:14141896..14144900,4	MCF-7	breast:
24	chr5:14136129..14138858-chr5:14141077..14143833,3	K562	blood:
25	chr11:62572428..62573154-chr5:14143009..14143666,2	Hela-S3	cervix:
26	chr5:14139271..14141119-chr5:14141229..14143217,3	MCF-7	breast:
27	chr5:14108397..14109018-chr5:14142719..14143457,3	MCF-7	breast:
28	chr5:14131209..14133861-chr5:14137409..14140927,3	MCF-7	breast:
29	chr5:14138335..14139971-chr5:14146960..14148722,2	K562	blood:
30	chr5:14141771..14143754-chr5:14229153..14231385,2	MCF-7	breast:

No data

Variant related genes	Relation type
TRIO	TF binding region
TRIO	CpG island
ENSG00000141378	chromatin interactions
ENSG00000261407	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000062716	chromatin interactions
ENSG00000189159	chromatin interactions
ENSG00000154124	chromatin interactions
ENSG00000267280	chromatin interactions
ENSG00000140526	chromatin interactions
ENSG00000147905	chromatin interactions
ENSG00000168374	chromatin interactions
ENSG00000272146	chromatin interactions
ENSG00000038382	chromatin interactions
ENSG00000162231	chromatin interactions
ENSG00000161920	chromatin interactions
ENSG00000261360	chromatin interactions
ENSG00000267131	chromatin interactions
ENSG00000110031	chromatin interactions

Extended variants
information (count: 259 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:259 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs164006	chr5:14138248-14138249	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs543651110	chr5:14138259-14138260	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs192024329	chr5:14138261-14138262	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs565264086	chr5:14138282-14138283	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs16903224	chr5:14138306-14138307	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs554012190	chr5:14138309-14138310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs184467266	chr5:14138328-14138329	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542470836	chr5:14138373-14138374	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560758038	chr5:14138392-14138393	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs528038638	chr5:14138404-14138405	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs552154445	chr5:14138409-14138410	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs143003587	chr5:14138411-14138412	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs531400867	chr5:14138419-14138420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373776296	chr5:14138510-14138511	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs549630877	chr5:14138592-14138593	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs532683605	chr5:14138601-14138602	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs547657179	chr5:14138646-14138647	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs561302671	chr5:14138656-14138657	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs187737694	chr5:14138679-14138680	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs559326127	chr5:14138695-14138696	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs539641776	chr5:14138697-14138698	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs535253110	chr5:14138766-14138767	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs149356085	chr5:14138785-14138786	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs192497860	chr5:14138798-14138799	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs547232912	chr5:14138799-14138800	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183480178	chr5:14138800-14138801	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs201701157	chr5:14138813-14138814	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368894542	chr5:14138814-14138815	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs58027098	chr5:14138815-14138816	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs374191848	chr5:14138825-14138826	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539354134	chr5:14138847-14138848	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs558872174	chr5:14138903-14138904	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs577185978	chr5:14138939-14138940	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538309518	chr5:14139015-14139016	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs556360631	chr5:14139020-14139021	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs189241819	chr5:14139022-14139023	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs575021902	chr5:14139023-14139024	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs542438349	chr5:14139060-14139061	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs560670275	chr5:14139063-14139064	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs558370428	chr5:14139117-14139118	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs113259212	chr5:14139118-14139119	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs184673254	chr5:14139122-14139123	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs72740378	chr5:14139133-14139134	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs248896	chr5:14139175-14139176	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs549779323	chr5:14139195-14139196	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs552386954	chr5:14139205-14139206	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs189983998	chr5:14139247-14139248	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs4423995	chr5:14139272-14139273	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs115532995	chr5:14139289-14139290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs547145108	chr5:14139309-14139310	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	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
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Intracranial aneurysm	16715129	CNVD

Chromatin state (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14133000-14138600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr5:14133000-14140800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr5:14133000-14142000	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:14134600-14138800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:14135200-14140600	Weak transcription	Left Ventricle	heart
6	chr5:14135400-14142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:14135600-14140600	Weak transcription	Right Ventricle	heart
8	chr5:14135600-14142600	Weak transcription	Lung	lung
9	chr5:14136800-14138600	Weak transcription	HSMMtube	muscle
10	chr5:14137000-14138800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:14137000-14138800	Weak transcription	Psoas Muscle	Psoas
12	chr5:14137000-14139200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:14137000-14139400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:14137200-14138600	Weak transcription	Fetal Heart	heart
15	chr5:14138000-14142400	Enhancers	Fetal Muscle Leg	muscle
16	chr5:14138600-14139400	Enhancers	HSMM	muscle
17	chr5:14138600-14139600	Enhancers	Fetal Heart	heart
18	chr5:14138600-14139600	Enhancers	HSMMtube	muscle
19	chr5:14138600-14141000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:14138800-14139600	Enhancers	Psoas Muscle	Psoas
21	chr5:14138800-14140000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr5:14138800-14141400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:14139000-14139600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr5:14139200-14139800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:14139400-14139600	Enhancers	HMEC	breast
26	chr5:14139400-14139600	Enhancers	NHDF-Ad	bronchial
27	chr5:14139400-14140600	Weak transcription	HSMM	muscle
28	chr5:14139400-14142400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:14139600-14140600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr5:14139600-14140600	Weak transcription	Fetal Heart	heart
31	chr5:14139600-14140800	Weak transcription	HSMMtube	muscle
32	chr5:14139600-14142200	Weak transcription	NHDF-Ad	bronchial
33	chr5:14139600-14142400	Weak transcription	Psoas Muscle	Psoas
34	chr5:14139800-14140400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr5:14140000-14140400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr5:14140400-14140600	Enhancers	Fetal Muscle Trunk	muscle
37	chr5:14140400-14141000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr5:14140400-14142400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:14140600-14140800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr5:14140600-14140800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr5:14140600-14140800	Enhancers	Adipose Nuclei	Adipose
42	chr5:14140600-14140800	Enhancers	Colonic Mucosa	Colon
43	chr5:14140600-14141000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:14140600-14141000	Enhancers	Left Ventricle	heart
45	chr5:14140600-14141000	Enhancers	Right Ventricle	heart
46	chr5:14140600-14141200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:14140600-14142000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:14140600-14142200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:14140600-14142200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr5:14140600-14142200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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