Variant report

Variant	nsv881089
Chromosome Location	chr5:27387385-27478198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:550)
CpG islands
(count:305)
Chromatin interactive
region (count:19)
LncRNA
region (count:29)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:550 , 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	ARID3A	chr5:27471950-27472762	HepG2	liver:	n/a	n/a
2	ATF1	chr5:27428887-27428920	K562	blood:	n/a	n/a
3	ATF2	chr5:27472100-27472589	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr5:27472335-27472849	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr5:27472602-27472610	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr5:27473428-27473653	HepG2	liver:	n/a	n/a
7	BHLHE40	chr5:27473142-27473831	HepG2	liver:	n/a	n/a
8	BHLHE40	chr5:27390071-27390112	K562	blood:	n/a	n/a
9	BHLHE40	chr5:27473085-27473935	K562	blood:	n/a	n/a
10	BHLHE40	chr5:27472077-27472614	GM12878	blood:	n/a	n/a
11	BHLHE40	chr5:27473140-27473798	GM12878	blood:	n/a	n/a
12	BHLHE40	chr5:27473412-27473860	A549	lung:	n/a	n/a
13	BRCA1	chr5:27403373-27403840	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr5:27472043-27473952	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr5:27465277-27465509	HepG2	liver:	n/a	chr5:27465370-27465381
16	CEBPB	chr5:27472163-27473883	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr5:27402961-27403754	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr5:27448587-27448827	HepG2	liver:	n/a	chr5:27448671-27448682
19	CEBPB	chr5:27403393-27403602	A549	lung:	n/a	n/a
20	CEBPB	chr5:27431090-27431379	A549	lung:	n/a	n/a
21	CEBPB	chr5:27434396-27434708	A549	lung:	n/a	chr5:27434536-27434547 chr5:27434534-27434547 chr5:27434534-27434545
22	CEBPB	chr5:27472147-27472690	HepG2	liver:	n/a	n/a
23	CEBPB	chr5:27434380-27434748	ECC-1	luminal epithelium:	n/a	chr5:27434536-27434547 chr5:27434534-27434547 chr5:27434534-27434545 chr5:27434726-27434743
24	CEBPB	chr5:27390811-27391135	HepG2	liver:	n/a	n/a
25	CEBPB	chr5:27434401-27434672	HepG2	liver:	n/a	chr5:27434536-27434547 chr5:27434534-27434547 chr5:27434534-27434545
26	CEBPB	chr5:27459716-27459960	A549	lung:	n/a	chr5:27459841-27459854 chr5:27459841-27459852 chr5:27459842-27459853
27	CEBPB	chr5:27390828-27391122	IMR90	lung:	n/a	n/a
28	CEBPB	chr5:27459726-27459987	HepG2	liver:	n/a	chr5:27459841-27459854 chr5:27459841-27459852 chr5:27459842-27459853
29	CEBPB	chr5:27390852-27391121	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr5:27448645-27448696	Hela-S3	cervix:	n/a	chr5:27448671-27448682
31	CEBPB	chr5:27402580-27402860	HepG2	liver:	n/a	chr5:27402684-27402697 chr5:27402755-27402766
32	CEBPB	chr5:27444220-27444223	A549	lung:	n/a	n/a
33	CEBPB	chr5:27414276-27414476	HepG2	liver:	n/a	n/a
34	CEBPD	chr5:27472396-27472646	HepG2	liver:	n/a	n/a
35	CEBPD	chr5:27472200-27472594	HepG2	liver:	n/a	n/a
36	CHD1	chr5:27472064-27474597	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr5:27476041-27476172	H1-hESC	embryonic stem cell:	n/a	n/a
38	CHD1	chr5:27473616-27473621	GM12878	blood:	n/a	n/a
39	CHD1	chr5:27472063-27472656	GM12878	blood:	n/a	n/a
40	CHD2	chr5:27472129-27472863	Hela-S3	cervix:	n/a	n/a
41	CHD2	chr5:27473143-27473297	HepG2	liver:	n/a	n/a
42	CHD2	chr5:27472182-27472643	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr5:27472032-27472898	HepG2	liver:	n/a	n/a
44	CTCF	chr5:27476980-27477130	MCF-7	breast:	n/a	n/a
45	CTCF	chr5:27407120-27407270	MCF-7	breast:	n/a	n/a
46	CTCF	chr5:27407121-27407236	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr5:27407040-27407190	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr5:27472720-27472870	A549	lung:	n/a	n/a
49	CTCF	chr5:27407160-27407310	GM06990	blood:	n/a	n/a
50	CTCF	chr5:27407040-27407190	GM06990	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:27387958-27388008	HepG2	liver:	n/a
2	chr5:27472029-27472079	Caco-2	colon:	n/a
3	chr5:27438836-27438886	NB4	blood:	n/a
4	chr5:27472520-27472570	BE2_C	brain:	n/a
5	chr5:27472029-27472079	LNCaP	prostate:	n/a
6	chr5:27472542-27472592	HEEpiC	esophagus:	n/a
7	chr5:27472520-27472570	PrEC	prostate:	n/a
8	chr5:27472029-27472079	CMK	blood:	n/a
9	chr5:27438836-27438886	T-47D	breast:	n/a
10	chr5:27472029-27472079	BJ	skin:	n/a
11	chr5:27472520-27472570	HRCEpiC	kidney:	n/a
12	chr5:27472029-27472079	ProgFib	skin:	n/a
13	chr5:27387958-27388008	CMK	blood:	n/a
14	chr5:27438836-27438886	AG10803	skin:	n/a
15	chr5:27472029-27472079	NB4	blood:	n/a
16	chr5:27472520-27472570	H1-hESC	embryonic stem cell:	embryo
17	chr5:27387958-27388008	AG10803	skin:	n/a
18	chr5:27387958-27388008	HCF	heart:	n/a
19	chr5:27387958-27388008	HEK293	kidney:	embryo
20	chr5:27472520-27472570	ovcar-3	ovarian:	n/a
21	chr5:27438836-27438886	ProgFib	skin:	n/a
22	chr5:27438836-27438886	HCT-116	colon:	n/a
23	chr5:27472520-27472570	NB4	blood:	n/a
24	chr5:27472029-27472079	HNPCEpiC	eye:	n/a
25	chr5:27387958-27388008	BE2_C	brain:	n/a
26	chr5:27472029-27472079	NHDF-neo	bronchial:	n/a
27	chr5:27438836-27438886	Jurkat	blood:	n/a
28	chr5:27472520-27472570	BJ	skin:	n/a
29	chr5:27438836-27438886	SAEC	small airway:	n/a
30	chr5:27472520-27472570	MCF10A-Er-Src	breast:	n/a
31	chr5:27472029-27472079	GM12892	blood:	n/a
32	chr5:27472029-27472079	SKMC	muscle:	n/a
33	chr5:27387958-27388008	RPTEC	kidney:	n/a
34	chr5:27472542-27472592	AG09319	gingival:	n/a
35	chr5:27472542-27472592	SK-N-SH	brain:	n/a
36	chr5:27387958-27388008	MCF-7	breast:	n/a
37	chr5:27472520-27472570	NH-A	brain:	n/a
38	chr5:27472029-27472079	GM12878	blood:	n/a
39	chr5:27472542-27472592	SK-N-MC	brain:	n/a
40	chr5:27472520-27472570	HCT-116	colon:	n/a
41	chr5:27472520-27472570	HCPEpiC	choroid plexus:	n/a
42	chr5:27472029-27472079	RPTEC	kidney:	n/a
43	chr5:27472542-27472592	HepG2	liver:	n/a
44	chr5:27472542-27472592	PANC-1	pancreas:	n/a
45	chr5:27472542-27472592	GM12892	blood:	n/a
46	chr5:27472520-27472570	GM06990	blood:	n/a
47	chr5:27472520-27472570	GM12891	blood:	n/a
48	chr5:27472520-27472570	AG09319	gingival:	n/a
49	chr5:27472520-27472570	MCF-7	breast:	n/a
50	chr5:27387958-27388008	GM06990	blood:	n/a

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:27467308..27469302-chr5:27473283..27475423,2	K562	blood:
2	chr5:27465898..27467546-chr5:27470324..27472509,2	K562	blood:
3	chr19:45907739..45908484-chr5:27472364..27473126,2	Hela-S3	cervix:
4	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
5	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
6	chr5:27386479..27389149-chr5:27394969..27398145,3	K562	blood:
7	chr5:27441556..27444509-chr5:27447634..27449803,2	K562	blood:
8	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
9	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
10	chr5:27410717..27413698-chr5:27423274..27425658,2	K562	blood:
11	chr5:27415884..27418944-chr5:27423264..27427119,3	K562	blood:
12	chr5:27384539..27388630-chr5:27389237..27391656,3	K562	blood:
13	chr5:27441556..27444509-chr5:27447634..27449803,2	K562	blood:
14	chr5:27466020..27468393-chr5:27470324..27473144,3	K562	blood:
15	chr10:69644380..69644911-chr5:27472591..27473140,2	Hela-S3	cervix:
16	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
17	chr5:27467308..27469302-chr5:27473283..27475423,2	K562	blood:
18	chr5:27422999..27425291-chr5:27429898..27432218,2	K562	blood:
19	chr5:27384451..27386814-chr5:27398781..27400428,2	K562	blood:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDH9-2	chr5:27412713-27412796	XLOC_004761
2	lnc-CDH9-2	chr5:27428267-27428320	XLOC_004761
3	lnc-C5orf17-8	chr5:27476194-27477201	XLOC_004323
4	lnc-CDH9-9	chr5:27448470-27448525	l_2893_chr5:27442393-27446144_testes
5	lnc-CDH9-9	chr5:27446084-27446144	l_2893_chr5:27442393-27446144_testes
6	lnc-C5orf17-8	chr5:27472418-27472626	XLOC_004323
7	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
8	lnc-CDH9-2	chr5:27409693-27409751	XLOC_004761
9	lnc-CDH9-2	chr5:27412713-27412768	XLOC_004761
10	lnc-CDH9-9	chr5:27442394-27442634	l_2893_chr5:27442393-27446144_testes
11	lnc-C5orf17-8	chr5:27475642-27475802	XLOC_004323
12	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
13	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337
14	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
15	lnc-C5orf17-8	chr5:27472414-27472626	ENSG00000250337
16	lnc-CDH9-2	chr5:27412775-27412796	XLOC_004761
17	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
18	lnc-CDH9-2	chr5:27436260-27436518	XLOC_004761
19	lnc-CDH9-2	chr5:27410327-27410387	XLOC_004761
20	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337
21	lnc-CDH9-2	chr5:27412720-27412796	XLOC_004761
22	lnc-CDH9-2	chr5:27423608-27423708	XLOC_004761
23	lnc-CDH9-2	chr5:27413322-27413758	XLOC_004761
24	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
25	lnc-C5orf17-8	chr5:27477746-27477908	ENSG00000250337
26	lnc-C5orf17-8	chr5:27476833-27477908	XLOC_004323
27	lnc-CDH9-2	chr5:27406640-27406877	XLOC_004761
28	lnc-CDH9-2	chr5:27406639-27406877	XLOC_004761
29	lnc-C5orf17-8	chr5:27475642-27475802	ENSG00000250337

No data

Variant related genes	Relation type
LINC01021	TF binding region
ENSG00000248490	TF binding region
LINC01021	CpG island
ENSG00000248490	CpG island
ENSG00000104881	chromatin interactions
ENSG00000250337	chromatin interactions
ENSG00000096717	chromatin interactions
BTAF1	miRNA target sites
YWHAQ	miRNA target sites
KRAS	miRNA target sites
PTPN22	miRNA target sites
SYNJ1	miRNA target sites
NUDT12	miRNA target sites
BCL2	miRNA target sites
SCCPDH	miRNA target sites
CHEK1	miRNA target sites

Extended variants
information (count: 1522 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1522 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10058813	chr5:27387385-27387386	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528548296	chr5:27387395-27387396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540842970	chr5:27387405-27387406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562220255	chr5:27387408-27387409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs148014441	chr5:27387459-27387460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs373249043	chr5:27387466-27387467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563030515	chr5:27387469-27387470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140690003	chr5:27387487-27387488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368326569	chr5:27387504-27387505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs551067305	chr5:27387566-27387567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10058999	chr5:27387665-27387666	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs533610435	chr5:27387675-27387676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563658099	chr5:27387689-27387690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548776626	chr5:27387702-27387703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36060325	chr5:27387706-27387707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138642058	chr5:27387708-27387709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189827824	chr5:27387721-27387722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141800591	chr5:27387743-27387744	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577846109	chr5:27387769-27387770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs539851428	chr5:27387795-27387796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569624795	chr5:27387810-27387811	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146276147	chr5:27387841-27387842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573381022	chr5:27387842-27387843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs137988246	chr5:27387852-27387853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562160676	chr5:27387986-27387987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183183982	chr5:27388052-27388053	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs376238728	chr5:27388064-27388065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73067906	chr5:27388089-27388090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34749693	chr5:27388114-27388115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533432211	chr5:27388152-27388153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs187824091	chr5:27388177-27388178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs150428233	chr5:27388186-27388187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142585090	chr5:27388196-27388197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144721795	chr5:27388204-27388205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs369090059	chr5:27388234-27388235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527389014	chr5:27388243-27388244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs190392594	chr5:27388250-27388251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567016105	chr5:27388266-27388267	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs79482576	chr5:27388282-27388283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549690376	chr5:27388297-27388298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs554719610	chr5:27388315-27388316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs115655008	chr5:27388334-27388335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs143617519	chr5:27388376-27388377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs538515545	chr5:27388378-27388379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558133032	chr5:27388547-27388548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573318587	chr5:27388550-27388551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs2434676	chr5:27388559-27388560	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs555930841	chr5:27388562-27388563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs183453306	chr5:27388584-27388585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs188108739	chr5:27388597-27388598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Lung cancer	16740712	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	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	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:27387000-27389200	Enhancers	HepG2	liver
2	chr5:27387400-27388200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr5:27387600-27388000	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr5:27387600-27388200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr5:27387600-27388200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr5:27387600-27388200	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr5:27387600-27388200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr5:27387600-27388800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:27388200-27389800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:27388600-27389800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:27388800-27389800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr5:27389200-27389600	Weak transcription	HepG2	liver
13	chr5:27389600-27390000	Enhancers	HepG2	liver
14	chr5:27389800-27390000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr5:27389800-27390200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr5:27392000-27393400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:27392400-27393600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr5:27402600-27404200	Active TSS	A549	lung
19	chr5:27403000-27403200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr5:27403000-27403200	Enhancers	Hela-S3	cervix
21	chr5:27403200-27403800	Active TSS	Hela-S3	cervix
22	chr5:27403200-27404000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:27403400-27403800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:27403400-27403800	Active TSS	Fetal Muscle Leg	muscle
25	chr5:27403400-27404000	Active TSS	HMEC	breast
26	chr5:27403400-27404000	Active TSS	Osteobl	bone
27	chr5:27403400-27404200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:27403600-27404000	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr5:27410400-27411000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:27417800-27418200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr5:27434000-27435200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:27434200-27435200	Enhancers	NHEK	skin
33	chr5:27435000-27435200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:27435000-27435400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr5:27435000-27435400	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr5:27435000-27435600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr5:27435200-27436200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:27436200-27436600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:27436400-27436600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:27436800-27449400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr5:27442800-27443200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:27446600-27449200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:27447600-27448400	ZNF genes & repeats	Spleen	Spleen
44	chr5:27450600-27451200	Enhancers	Fetal Heart	heart
45	chr5:27450800-27451000	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr5:27450800-27451200	Enhancers	Rectal Smooth Muscle	rectum
47	chr5:27450800-27451400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:27451000-27451400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr5:27451400-27452000	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr5:27467800-27468400	Enhancers	Cortex derived primary cultured neurospheres	brain

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