Variant report

Variant	nsv1025309
Chromosome Location	chr5:8399380-8466098
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:505)
CpG islands
(count:672)
Chromatin interactive
region (count:26)
LncRNA
region (count:22)
Mature miRNA
region (count: 1)
miRNA target
sites (count:0)

(count:505 , 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	chr5:8456981-8457603	K562	blood:	n/a	n/a
2	ATF1	chr5:8457313-8457977	K562	blood:	n/a	n/a
3	ATF3	chr5:8457266-8457641	K562	blood:	n/a	n/a
4	ATF3	chr5:8457385-8457596	K562	blood:	n/a	n/a
5	ATF3	chr5:8457637-8457977	K562	blood:	n/a	n/a
6	BACH1	chr5:8457293-8458414	H1-hESC	embryonic stem cell:	n/a	chr5:8457494-8457508
7	BACH1	chr5:8466094-8466189	K562	blood:	n/a	n/a
8	BACH1	chr5:8457330-8458064	K562	blood:	n/a	chr5:8457494-8457508
9	BATF	chr5:8446312-8446635	GM12878	blood:	n/a	n/a
10	BCL11A	chr5:8435885-8436018	GM12878	blood:	n/a	n/a
11	BHLHE40	chr5:8457355-8458387	HepG2	liver:	n/a	n/a
12	BHLHE40	chr5:8456851-8458022	K562	blood:	n/a	n/a
13	BHLHE40	chr5:8458233-8458559	K562	blood:	n/a	n/a
14	BRCA1	chr5:8457088-8457928	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr5:8458210-8458271	Hela-S3	cervix:	n/a	n/a
16	CBX3	chr5:8456740-8458011	K562	blood:	n/a	n/a
17	CBX3	chr5:8457263-8457681	K562	blood:	n/a	n/a
18	CCNT2	chr5:8457339-8458513	K562	blood:	n/a	chr5:8458274-8458283
19	CEBPB	chr5:8457543-8457642	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPB	chr5:8413197-8413466	A549	lung:	n/a	chr5:8413335-8413346
21	CEBPB	chr5:8440231-8440301	HepG2	liver:	n/a	n/a
22	CEBPB	chr5:8457327-8458568	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr5:8426178-8426545	MCF-7	breast:	n/a	n/a
24	CEBPB	chr5:8413227-8413457	HepG2	liver:	n/a	chr5:8413335-8413346
25	CHD2	chr5:8457230-8458053	K562	blood:	n/a	n/a
26	CHD2	chr5:8457295-8458598	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr5:8457444-8457904	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr5:8457340-8458133	HepG2	liver:	n/a	n/a
29	CREB1	chr5:8457331-8458097	K562	blood:	n/a	n/a
30	CREB1	chr5:8457294-8458014	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr5:8457414-8457696	A549	lung:	n/a	n/a
32	CTCF	chr5:8426292-8426396	MCF-7	breast:	n/a	n/a
33	CTCF	chr5:8450380-8450530	HEK293	kidney:	n/a	n/a
34	CTCF	chr5:8410884-8410970	MCF-7	breast:	n/a	n/a
35	CTCF	chr5:8457525-8457539	IMR90	lung:	n/a	n/a
36	CTCF	chr5:8426264-8426512	MCF-7	breast:	n/a	n/a
37	CTCF	chr5:8461885-8461921	GM10248	blood:	n/a	n/a
38	CTCF	chr5:8426297-8426476	LNCaP	prostate:	n/a	n/a
39	CTCF	chr5:8439300-8439450	GM12871	blood:	n/a	n/a
40	CTCF	chr5:8426297-8426478	LNCaP	prostate:	n/a	n/a
41	CTCF	chr5:8457860-8458010	AG04449	skin:	n/a	n/a
42	CTCF	chr5:8426143-8426622	MCF-7	breast:	n/a	n/a
43	CTCF	chr5:8426314-8426446	HepG2	liver:	n/a	n/a
44	CTCF	chr5:8441540-8441690	RPTEC	kidney:	n/a	n/a
45	CTCF	chr5:8410896-8410924	K562	blood:	n/a	n/a
46	CTCF	chr5:8441602-8441657	HepG2	liver:	n/a	n/a
47	CTCF	chr5:8410874-8410968	MCF-7	breast:	n/a	n/a
48	CTCF	chr5:8410891-8410935	ProgFib	skin:	n/a	n/a
49	CTCF	chr5:8445165-8445200	LNCaP	prostate:	n/a	n/a
50	CTCF	chr5:8426391-8426397	Gliobla	brain:	n/a	n/a

(count:672 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr5:8458392-8458442	ProgFib	skin:	n/a
2	chr5:8458392-8458442	ProgFib	skin:	n/a
3	chr5:8461041-8461091	AG04449	skin:	fetal
4	chr5:8456584-8456634	HPAEpiC	pulmonary alveolar:	n/a
5	chr5:8462139-8462189	GM12892	blood:	n/a
6	chr5:8462139-8462189	GM06990	blood:	n/a
7	chr5:8462139-8462189	MCF10A-Er-Src	breast:	n/a
8	chr5:8457818-8457868	BE2_C	brain:	n/a
9	chr5:8457970-8458020	GM19239	blood:	n/a
10	chr5:8462139-8462189	NHDF-neo	bronchial:	n/a
11	chr5:8458392-8458442	SAEC	small airway:	n/a
12	chr5:8457818-8457868	ovcar-3	ovarian:	n/a
13	chr5:8462139-8462189	AG09319	gingival:	n/a
14	chr5:8462139-8462189	HAEpiC	amniotic membrane:	n/a
15	chr5:8458392-8458442	Caco-2	colon:	n/a
16	chr5:8457818-8457868	HRCEpiC	kidney:	n/a
17	chr5:8458089-8458139	HEEpiC	esophagus:	n/a
18	chr5:8457548-8457598	HepG2	liver:	n/a
19	chr5:8458392-8458442	HRCEpiC	kidney:	n/a
20	chr5:8456584-8456634	HIPEpiC	eye:	n/a
21	chr5:8461832-8461882	HepG2	liver:	n/a
22	chr5:8457970-8458020	HPAEpiC	pulmonary alveolar:	n/a
23	chr5:8457818-8457868	SK-N-SH	brain:	n/a
24	chr5:8461832-8461882	PrEC	prostate:	n/a
25	chr5:8457548-8457598	SKMC	muscle:	n/a
26	chr5:8458089-8458139	RPTEC	kidney:	n/a
27	chr5:8457970-8458020	Hela-S3	cervix:	n/a
28	chr5:8458392-8458442	HCF	heart:	n/a
29	chr5:8461832-8461882	NT2-D1	testis:	n/a
30	chr5:8462139-8462189	NB4	blood:	n/a
31	chr5:8458089-8458139	ovcar-3	ovarian:	n/a
32	chr5:8457729-8457779	K562	blood:	n/a
33	chr5:8458392-8458442	GM06990	blood:	n/a
34	chr5:8457548-8457598	BE2_C	brain:	n/a
35	chr5:8458392-8458442	HRPEpiC	eye:	n/a
36	chr5:8456584-8456634	HEEpiC	esophagus:	n/a
37	chr5:8457721-8457771	GM06990	blood:	n/a
38	chr5:8458392-8458442	HCPEpiC	choroid plexus:	n/a
39	chr5:8456584-8456634	HUVEC	blood vessel:	n/a
40	chr5:8456584-8456634	MCF10A-Er-Src	breast:	n/a
41	chr5:8458392-8458442	T-47D	breast:	n/a
42	chr5:8458392-8458442	LNCaP	prostate:	n/a
43	chr5:8457818-8457868	K562	blood:	n/a
44	chr5:8462139-8462189	HepG2	liver:	n/a
45	chr5:8458089-8458139	HCM	heart:	n/a
46	chr5:8457970-8458020	HNPCEpiC	eye:	n/a
47	chr5:8457721-8457771	SK-N-SH	brain:	n/a
48	chr5:8462139-8462189	ovcar-3	ovarian:	n/a
49	chr5:8457729-8457779	MCF10A-Er-Src	breast:	n/a
50	chr5:8458392-8458442	PANC-1	pancreas:	n/a

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:41380556..41383320-chr5:8424542..8426042,2	K562	blood:
2	chr5:8436070..8438257-chr5:8440471..8442267,2	K562	blood:
3	chr5:8455948..8459329-chr5:8460368..8463674,5	K562	blood:
4	chr5:8456789..8458556-chr5:8461393..8463555,2	MCF-7	breast:
5	chr5:8455948..8459329-chr5:8460368..8463674,5	K562	blood:
6	chr17:36002985..36003673-chr5:8457586..8458291,2	Hela-S3	cervix:
7	chr5:8428561..8430944-chr5:8432470..8435197,2	MCF-7	breast:
8	chr17:41463656..41466177-chr5:8424542..8427523,2	MCF-7	breast:
9	chr5:8435771..8437570-chr5:8440279..8442267,2	K562	blood:
10	chr5:8451906..8454974-chr5:8455165..8458746,3	K562	blood:
11	chr5:8457078..8459207-chr5:8461943..8464823,4	K562	blood:
12	chr11:62608642..62609503-chr5:8457394..8458109,3	Hela-S3	cervix:
13	chr5:8435771..8437570-chr5:8440279..8442267,2	K562	blood:
14	chr5:8428561..8430944-chr5:8432470..8435197,2	MCF-7	breast:
15	chr5:8436070..8438257-chr5:8440471..8442267,2	K562	blood:
16	chr17:41463804..41465376-chr5:8424543..8427523,2	K562	blood:
17	chr17:41398647..41403327-chr5:8424523..8427522,6	K562	blood:
18	chr5:8247316..8248146-chr5:8426139..8426948,3	MCF-7	breast:
19	chr5:8247458..8248066-chr5:8425960..8426700,2	MCF-7	breast:
20	chr5:8340161..8341518-chr5:8426060..8426931,4	MCF-7	breast:
21	chr5:8462445..8464940-chr5:8473267..8475894,2	K562	blood:
22	chr17:41380454..41382056-chr5:8424522..8426042,2	K562	blood:
23	chr5:8461759..8464771-chr5:8466218..8469670,3	K562	blood:
24	chr5:8424954..8426951-chr5:8459409..8461933,2	K562	blood:
25	chr5:8326714..8328797-chr5:8452465..8455003,2	K562	blood:
26	chr20:44563204..44564063-chr5:8461812..8462367,2	Hela-S3	cervix:

(count:22 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEMA5A-10	chr5:8460226-8460932	NONHSAT100292
2	lnc-FASTKD3-5	chr5:8410902-8411109	NONHSAT100286
3	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000249159.2
4	lnc-MTRR-11	chr5:8458955-8459296	NONHSAT100291
5	lnc-FASTKD3-1	chr5:8457562-8457677	ENSG00000249159
6	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000245729
7	lnc-FASTKD3-1	chr5:8457562-8457677	NONHSAT100283
8	lnc-FASTKD3-1	chr5:8452336-8452393	ENSG00000249159
9	lnc-FASTKD3-1	chr5:8457562-8457671	ENSG00000245729
10	lnc-FASTKD3-1	chr5:8446214-8446468	ENSG00000249159.2
11	lnc-FASTKD3-1	chr5:8440640-8440822	ucscGeneNc_uc003jeh_1
12	lnc-FASTKD3-1	chr5:8433186-8433261	ENSG00000249159
13	lnc-FASTKD3-1	chr5:8446156-8446468	NONHSAT100287
14	lnc-FASTKD3-6	chr5:8445062-8445648	ENSG00000272049.1
15	lnc-FASTKD3-1	chr5:8457562-8457645	ENSG00000249159.2
16	lnc-FASTKD3-1	chr5:8452336-8452393	NONHSAT100283
17	lnc-FASTKD3-1	chr5:8433968-8434085	ENSG00000249159
18	lnc-FASTKD3-1	chr5:8452336-8452393	NONHSAT100287
19	lnc-FASTKD3-1	chr5:8457562-8457688	NONHSAT100287
20	lnc-MTRR-3	chr5:8450856-8451757	NONHSAT100288
21	lnc-SEMA5A-11	chr5:8456059-8456671	NONHSAT100289
22	lnc-MTRR-3	chr5:8460046-8460209	NONHSAT100288

miRNA name	Chromosome Location	mirBase accession
hsa-miR-4458	chr5:8461046-8461064	MIMAT0018980

No data

Variant related genes	Relation type
ENSG00000245729	TF binding region
ENSG00000250037	TF binding region
MIR4458HG	TF binding region
ENSG00000249159	TF binding region
ENSG00000251549	TF binding region
ENSG00000272049	TF binding region
ENSG00000245729	CpG island
ENSG00000250037	CpG island
MIR4458HG	CpG island
ENSG00000249159	CpG island
ENSG00000251549	CpG island
ENSG00000272049	CpG island
ENSG00000188825	chromatin interactions
ENSG00000250037	chromatin interactions
ENSG00000236383	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000245729	chromatin interactions
ENSG00000141141	chromatin interactions
ENSG00000249159	chromatin interactions
ENSG00000100982	chromatin interactions
ENSG00000267668	chromatin interactions
ENSG00000247516	chromatin interactions
ARHGAP12	miRNA target sites

Extended variants
information (count: 1934 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:1934 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542778201	chr5:8399411-8399412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569303405	chr5:8399422-8399423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs538210008	chr5:8399451-8399452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs60652042	chr5:8399463-8399464	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs565411565	chr5:8399510-8399511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534521840	chr5:8399519-8399520	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369302214	chr5:8399545-8399546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144233663	chr5:8399588-8399589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs78704948	chr5:8399599-8399600	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556323549	chr5:8399643-8399644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576512420	chr5:8399683-8399684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146045314	chr5:8399754-8399755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148799373	chr5:8399759-8399760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142438184	chr5:8399760-8399761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs541292162	chr5:8399766-8399767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117579582	chr5:8399780-8399781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192513665	chr5:8399806-8399807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182151819	chr5:8399819-8399820	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58691839	chr5:8399820-8399821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532004871	chr5:8399838-8399839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs189790148	chr5:8399858-8399859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182121950	chr5:8399862-8399863	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534690370	chr5:8399870-8399871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187143233	chr5:8399872-8399873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs569813108	chr5:8399897-8399898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190065064	chr5:8399928-8399929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs536804570	chr5:8399950-8399951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs183846828	chr5:8399958-8399959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557528280	chr5:8409610-8409611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs114899423	chr5:8409617-8409618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370502986	chr5:8409646-8409647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73738176	chr5:8409647-8409648	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs35251251	chr5:8409655-8409656	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs115051816	chr5:8409755-8409756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372228162	chr5:8409811-8409812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs62357218	chr5:8409848-8409849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs560541346	chr5:8409854-8409855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2442089	chr5:8409858-8409859	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549580385	chr5:8409876-8409877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs370655261	chr5:8409877-8409878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34520576	chr5:8409930-8409931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12659242	chr5:8409935-8409936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs532031261	chr5:8409953-8409954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185555595	chr5:8409969-8409970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561484184	chr5:8409978-8409979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374322510	chr5:8409989-8409990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13357542	chr5:8410008-8410009	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs113472752	chr5:8410125-8410126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190711163	chr5:8410126-8410127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs200895540	chr5:8410134-8410135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8399200-8399800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:8399200-8400000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:8409600-8409800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:8409800-8414400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr5:8411800-8412200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:8411800-8412400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:8414200-8414800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:8414400-8414600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:8414600-8414800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:8414800-8417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr5:8416200-8417000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:8417000-8418200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr5:8417000-8418200	Enhancers	Fetal Lung	lung
14	chr5:8417000-8418200	Enhancers	Ovary	ovary
15	chr5:8417400-8417800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:8417400-8418200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr5:8417400-8418400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr5:8417400-8418400	Enhancers	Fetal Muscle Leg	muscle
19	chr5:8417400-8418400	Enhancers	Fetal Stomach	stomach
20	chr5:8417400-8418400	Enhancers	NHDF-Ad	bronchial
21	chr5:8417600-8418200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:8417800-8418200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr5:8417800-8418400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:8418200-8418400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr5:8430000-8430800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr5:8430600-8432000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr5:8431400-8432000	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:8432000-8433400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr5:8432000-8436800	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr5:8433800-8434200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr5:8433800-8434400	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:8434000-8434200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr5:8434200-8436800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr5:8436600-8437000	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr5:8436600-8437400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:8436800-8437000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:8436800-8437800	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:8437000-8437400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:8437000-8437400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr5:8437400-8437800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:8437400-8438200	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr5:8438200-8446200	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr5:8443200-8457400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr5:8443400-8456400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:8444600-8445000	Enhancers	H1 Cell Line	embryonic stem cell
46	chr5:8444600-8445000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:8444600-8445000	ZNF genes & repeats	Dnd41	blood
48	chr5:8444800-8445800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:8445000-8445400	Weak transcription	Dnd41	blood
50	chr5:8445400-8457000	Weak transcription	Brain Anterior Caudate	brain

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