Variant report

Variant	nsv881419
Chromosome Location	chr5:8077509-8202536
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	chr5:8129516-8129638	HepG2	liver:	n/a	n/a
2	CCNT2	chr5:8195851-8196050	K562	blood:	n/a	n/a
3	CEBPB	chr5:8176120-8176702	MCF-7	breast:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
4	CEBPB	chr5:8176268-8176497	HepG2	liver:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
5	CEBPB	chr5:8142028-8142376	HepG2	liver:	n/a	chr5:8142203-8142214
6	CEBPB	chr5:8176086-8176672	K562	blood:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
7	CEBPB	chr5:8176221-8176582	K562	blood:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
8	CEBPB	chr5:8122123-8122311	K562	blood:	n/a	chr5:8122236-8122247 chr5:8122270-8122281 chr5:8122236-8122247
9	CEBPB	chr5:8176205-8176610	A549	lung:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
10	CEBPB	chr5:8176257-8176586	ECC-1	luminal epithelium:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
11	CEBPB	chr5:8107654-8108013	IMR90	lung:	n/a	chr5:8107829-8107840 chr5:8107828-8107841
12	CEBPB	chr5:8199705-8199921	IMR90	lung:	n/a	chr5:8199776-8199787
13	CEBPB	chr5:8176175-8176647	ECC-1	luminal epithelium:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
14	CEBPB	chr5:8171355-8171673	HepG2	liver:	n/a	chr5:8171506-8171515 chr5:8171504-8171515 chr5:8171505-8171516
15	CEBPB	chr5:8176228-8176611	HepG2	liver:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
16	CEBPB	chr5:8177836-8178084	A549	lung:	n/a	chr5:8177973-8177986
17	CEBPB	chr5:8176180-8176653	A549	lung:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
18	CEBPB	chr5:8150952-8151289	HepG2	liver:	n/a	chr5:8151114-8151125
19	CEBPB	chr5:8116082-8116196	K562	blood:	n/a	n/a
20	CEBPB	chr5:8176051-8176638	Hela-S3	cervix:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
21	CEBPB	chr5:8176222-8176613	HepG2	liver:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
22	CEBPB	chr5:8138632-8138832	HepG2	liver:	n/a	chr5:8138707-8138718
23	CEBPB	chr5:8142064-8142313	Hela-S3	cervix:	n/a	chr5:8142203-8142214
24	CEBPB	chr5:8165153-8165357	HepG2	liver:	n/a	chr5:8165244-8165255
25	CEBPB	chr5:8176223-8176614	H1-hESC	embryonic stem cell:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
26	CEBPB	chr5:8146709-8146905	HepG2	liver:	n/a	chr5:8146790-8146801 chr5:8146789-8146802
27	CEBPB	chr5:8176185-8176710	MCF-7	breast:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
28	CEBPB	chr5:8176076-8176792	A549	lung:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
29	CEBPB	chr5:8176175-8176615	IMR90	lung:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
30	CEBPB	chr5:8122140-8122417	HepG2	liver:	n/a	chr5:8122236-8122247 chr5:8122270-8122281 chr5:8122236-8122247
31	CEBPB	chr5:8150986-8151288	IMR90	lung:	n/a	chr5:8151114-8151125
32	CEBPB	chr5:8146783-8146820	K562	blood:	n/a	chr5:8146790-8146801 chr5:8146789-8146802
33	CEBPB	chr5:8142083-8142357	A549	lung:	n/a	chr5:8142203-8142214
34	CEBPB	chr5:8098682-8098736	HepG2	liver:	n/a	chr5:8098704-8098715 chr5:8098704-8098717 chr5:8098705-8098716 chr5:8098704-8098717
35	CEBPB	chr5:8131641-8131714	HepG2	liver:	n/a	n/a
36	CEBPB	chr5:8107702-8107975	HepG2	liver:	n/a	chr5:8107829-8107840 chr5:8107828-8107841
37	CEBPB	chr5:8138567-8138790	A549	lung:	n/a	chr5:8138707-8138718
38	CEBPB	chr5:8150955-8151284	K562	blood:	n/a	chr5:8151114-8151125
39	CEBPB	chr5:8150940-8151300	A549	lung:	n/a	chr5:8151114-8151125
40	CEBPB	chr5:8176166-8176647	HepG2	liver:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
41	CEBPB	chr5:8176289-8176531	K562	blood:	n/a	chr5:8176414-8176425 chr5:8176416-8176425 chr5:8176416-8176425 chr5:8176414-8176427 chr5:8176416-8176425 chr5:8176416-8176425
42	CEBPB	chr5:8199623-8199962	HepG2	liver:	n/a	chr5:8199776-8199787
43	CTCF	chr5:8184740-8184890	HA-sp	spinal cord:	n/a	chr5:8184770-8184779
44	CTCF	chr5:8184626-8184915	Medullo	brain:	n/a	chr5:8184770-8184779
45	CTCF	chr5:8184678-8184899	HUVEC	blood vessel:	n/a	chr5:8184770-8184779
46	CTCF	chr5:8184640-8184790	HCM	heart:	n/a	chr5:8184770-8184779
47	CTCF	chr5:8184700-8184850	HCPEpiC	choroid plexus:	n/a	chr5:8184770-8184779
48	CTCF	chr5:8184680-8184830	HCM	heart:	n/a	chr5:8184770-8184779
49	CTCF	chr5:8184720-8184870	AG04449	skin:	n/a	chr5:8184770-8184779
50	CTCF	chr5:8184700-8184850	GM12875	blood:	n/a	chr5:8184770-8184779

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:8090063-8090113	AG10803	skin:	n/a
2	chr5:8090063-8090113	AG10803	skin:	n/a
3	chr5:8090063-8090113	T-47D	breast:	n/a
4	chr5:8090063-8090113	H1-hESC	embryonic stem cell:	embryo
5	chr5:8090170-8090220	GM19239	blood:	n/a
6	chr5:8090063-8090113	HRPEpiC	eye:	n/a
7	chr5:8090170-8090220	RPTEC	kidney:	n/a
8	chr5:8090170-8090220	HEK293	kidney:	embryo
9	chr5:8090170-8090220	H1-hESC	embryonic stem cell:	embryo
10	chr5:8090063-8090113	ProgFib	skin:	n/a
11	chr5:8090170-8090220	AG10803	skin:	n/a
12	chr5:8090063-8090113	GM12892	blood:	n/a
13	chr5:8090063-8090113	BJ	skin:	n/a
14	chr5:8090170-8090220	HUVEC	blood vessel:	n/a
15	chr5:8090063-8090113	HCPEpiC	choroid plexus:	n/a
16	chr5:8090170-8090220	HIPEpiC	eye:	n/a
17	chr5:8090063-8090113	HNPCEpiC	eye:	n/a
18	chr5:8090063-8090113	GM12878	blood:	n/a
19	chr5:8090170-8090220	NT2-D1	testis:	n/a
20	chr5:8090170-8090220	PFSK-1	brain:	n/a
21	chr5:8090170-8090220	PrEC	prostate:	n/a
22	chr5:8090063-8090113	HIPEpiC	eye:	n/a
23	chr5:8090063-8090113	PANC-1	pancreas:	n/a
24	chr5:8090063-8090113	U87	brain:	n/a
25	chr5:8090063-8090113	BE2_C	brain:	n/a
26	chr5:8090170-8090220	CMK	blood:	n/a
27	chr5:8090063-8090113	LNCaP	prostate:	n/a
28	chr5:8090063-8090113	Caco-2	colon:	n/a
29	chr5:8090063-8090113	MCF10A-Er-Src	breast:	n/a
30	chr5:8090063-8090113	AG09309	skin:	n/a
31	chr5:8090170-8090220	MCF10A-Er-Src	breast:	n/a
32	chr5:8090063-8090113	HRE	kidney:	n/a
33	chr5:8090063-8090113	PFSK-1	brain:	n/a
34	chr5:8090170-8090220	HRE	kidney:	n/a
35	chr5:8090063-8090113	Hepatocyte	liver:	n/a
36	chr5:8090170-8090220	Hela-S3	cervix:	n/a
37	chr5:8090063-8090113	CMK	blood:	n/a
38	chr5:8090063-8090113	SKMC	muscle:	n/a
39	chr5:8090063-8090113	PrEC	prostate:	n/a
40	chr5:8090063-8090113	SK-N-SH_RA	brain:	n/a
41	chr5:8090063-8090113	RPTEC	kidney:	n/a
42	chr5:8090170-8090220	HRPEpiC	eye:	n/a
43	chr5:8090063-8090113	HUVEC	blood vessel:	n/a
44	chr5:8090170-8090220	GM12891	blood:	n/a
45	chr5:8090063-8090113	GM12891	blood:	n/a
46	chr5:8090170-8090220	T-47D	breast:	n/a
47	chr5:8090063-8090113	HRCEpiC	kidney:	n/a
48	chr5:8090170-8090220	AG04450	lung:	fetal
49	chr5:8090170-8090220	HAEpiC	amniotic membrane:	n/a
50	chr5:8090170-8090220	HPAEpiC	pulmonary alveolar:	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:8106076..8107947-chr6:87646502..87649216,2	MCF-7	breast:
2	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
3	chr5:8181808..8184211-chr5:8185968..8188351,2	K562	blood:
4	chr5:8181808..8184211-chr5:8185968..8188351,2	K562	blood:
5	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
6	chr5:8119112..8121414-chr5:8129227..8131292,2	K562	blood:
7	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
8	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:
9	chr5:8105063..8106753-chr5:8107596..8110056,2	K562	blood:
10	chr5:8101057..8104015-chr5:8107108..8109613,2	K562	blood:
11	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:
12	chr5:8129393..8131409-chr5:8134410..8137321,2	K562	blood:
13	chr5:8102515..8104244-chr5:8107630..8109613,2	K562	blood:
14	chr5:8129393..8131409-chr5:8134410..8137321,2	K562	blood:
15	chr5:8117942..8120376-chr5:8122050..8123873,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FASTKD3-4	chr5:8157654-8157901	NONHSAT100281
2	lnc-FASTKD3-3	chr5:8080299-8080874	NONHSAT100278

Variant related genes	Relation type
ENSG00000249486	TF binding region
ENSG00000249486	CpG island
ENSG00000168830	chromatin interactions

Extended variants
information (count: 1579 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:1579 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571913925	chr5:8079404-8079405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs532125736	chr5:8079456-8079457	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200318724	chr5:8079458-8079459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs372056861	chr5:8079474-8079475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531551331	chr5:8079475-8079476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150289962	chr5:8079481-8079482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs373049837	chr5:8079501-8079502	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114278879	chr5:8079502-8079503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138213927	chr5:8079503-8079504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553857091	chr5:8079508-8079509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567688064	chr5:8079509-8079510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142306870	chr5:8079515-8079516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs201231079	chr5:8079531-8079532	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145504756	chr5:8079540-8079541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs191516163	chr5:8079544-8079545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556742548	chr5:8079548-8079549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs28430689	chr5:8079550-8079551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs34035371	chr5:8079569-8079570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs70940792	chr5:8079571-8079572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs62357630	chr5:8079572-8079573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184162271	chr5:8079585-8079586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs542731915	chr5:8079586-8079587	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs188764576	chr5:8079604-8079605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs112798907	chr5:8079615-8079616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs111500875	chr5:8079637-8079638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146072820	chr5:8079652-8079653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531422857	chr5:8079704-8079705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373582044	chr5:8079754-8079755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62357631	chr5:8079773-8079774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71583577	chr5:8079780-8079781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62357632	chr5:8079783-8079784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs370208939	chr5:8079786-8079787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs28578749	chr5:8079811-8079812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572626302	chr5:8079819-8079820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs62357633	chr5:8079857-8079858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs541743065	chr5:8079859-8079860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560709711	chr5:8079865-8079866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs199742789	chr5:8079886-8079887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370329606	chr5:8079914-8079915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113950836	chr5:8079960-8079961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62357634	chr5:8079967-8079968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs111918146	chr5:8079979-8079980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs550044856	chr5:8079992-8079993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34006359	chr5:8080024-8080025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs35681847	chr5:8080033-8080034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369340556	chr5:8080054-8080055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200900943	chr5:8080056-8080057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543013802	chr5:8080060-8080061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35507106	chr5:8080071-8080072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563003104	chr5:8080078-8080079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

Disease	PMID	Source
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Glioma	20126413	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	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

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8079400-8079600	Enhancers	Spleen	Spleen
2	chr5:8079600-8080600	Weak transcription	Spleen	Spleen
3	chr5:8080600-8080800	Enhancers	Spleen	Spleen
4	chr5:8097600-8098000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr5:8097600-8098200	Enhancers	Ovary	ovary
6	chr5:8097800-8098200	Enhancers	Fetal Muscle Trunk	muscle
7	chr5:8103200-8103600	Enhancers	GM12878-XiMat	blood
8	chr5:8123800-8124200	Enhancers	Fetal Brain Male	brain
9	chr5:8129200-8129800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:8129400-8129800	Enhancers	Brain Germinal Matrix	brain
11	chr5:8129600-8129800	Enhancers	Gastric	stomach
12	chr5:8129800-8134800	Weak transcription	Gastric	stomach
13	chr5:8134600-8135400	Enhancers	Aorta	Aorta
14	chr5:8134800-8135000	Enhancers	Gastric	stomach
15	chr5:8138200-8138600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:8144800-8145800	Enhancers	Fetal Lung	lung
17	chr5:8145200-8145600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr5:8151000-8151600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr5:8151000-8151800	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:8151200-8151600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:8157600-8158400	Weak transcription	Spleen	Spleen
22	chr5:8158400-8158600	Enhancers	Spleen	Spleen
23	chr5:8159800-8160000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr5:8166000-8166200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:8166200-8166400	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:8166200-8166600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr5:8166200-8166800	ZNF genes & repeats	Pancreas	Pancrea
28	chr5:8166400-8166600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:8166800-8180800	Weak transcription	Pancreas	Pancrea
30	chr5:8172600-8173600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr5:8173600-8174800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:8175000-8175200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr5:8176000-8176400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr5:8176000-8176600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:8176200-8176400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr5:8176200-8176400	Enhancers	Gastric	stomach
37	chr5:8176200-8176800	Enhancers	Ovary	ovary
38	chr5:8176400-8180800	Weak transcription	Gastric	stomach
39	chr5:8176600-8188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:8180200-8181600	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr5:8180400-8181400	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr5:8180600-8181400	Enhancers	H1 Cell Line	embryonic stem cell
43	chr5:8180800-8181200	Enhancers	Gastric	stomach
44	chr5:8180800-8181400	Enhancers	H9 Cell Line	embryonic stem cell
45	chr5:8180800-8181400	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr5:8180800-8181400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr5:8180800-8181400	Enhancers	Pancreas	Pancrea
48	chr5:8180800-8181600	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr5:8181000-8181400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:8181000-8181400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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