Variant report

Variant	nsv535001
Chromosome Location	chr1:74441655-74680703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:917)
CpG islands
(count:977)
Chromatin interactive
region (count:25)
LncRNA
region (count:8)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr1:74462695-74462828	K562	blood:	n/a	n/a
2	ARID3A	chr1:74663686-74664378	K562	blood:	n/a	chr1:74664007-74664022
3	ARID3A	chr1:74663477-74664483	HepG2	liver:	n/a	chr1:74664007-74664022
4	ATF2	chr1:74663457-74664203	GM12878	blood:	n/a	n/a
5	ATF2	chr1:74662907-74663375	GM12878	blood:	n/a	n/a
6	BACH1	chr1:74579087-74579383	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCLAF1	chr1:74663532-74664137	GM12878	blood:	n/a	chr1:74663930-74663943
8	BHLHE40	chr1:74663528-74664410	K562	blood:	n/a	n/a
9	BHLHE40	chr1:74665274-74665305	GM12878	blood:	n/a	n/a
10	BHLHE40	chr1:74570008-74570023	GM12878	blood:	n/a	n/a
11	BHLHE40	chr1:74663682-74664506	GM12878	blood:	n/a	n/a
12	BHLHE40	chr1:74665269-74665611	K562	blood:	n/a	n/a
13	BRCA1	chr1:74663561-74664177	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr1:74663478-74664282	K562	blood:	n/a	n/a
15	CCNT2	chr1:74663575-74664088	K562	blood:	n/a	n/a
16	CEBPB	chr1:74646172-74646569	IMR90	lung:	n/a	chr1:74646354-74646365
17	CEBPB	chr1:74607706-74608010	Hela-S3	cervix:	n/a	chr1:74607858-74607869
18	CEBPB	chr1:74474769-74474784	HepG2	liver:	n/a	n/a
19	CEBPB	chr1:74468314-74468654	IMR90	lung:	n/a	chr1:74468476-74468489 chr1:74468476-74468487 chr1:74468476-74468489 chr1:74468476-74468489
20	CEBPB	chr1:74607787-74607950	K562	blood:	n/a	chr1:74607858-74607869
21	CEBPB	chr1:74646215-74646535	Hela-S3	cervix:	n/a	chr1:74646354-74646365
22	CEBPB	chr1:74584311-74584580	HepG2	liver:	n/a	chr1:74584485-74584496
23	CEBPB	chr1:74517121-74517299	HepG2	liver:	n/a	chr1:74517238-74517249
24	CEBPB	chr1:74607709-74607977	HepG2	liver:	n/a	chr1:74607858-74607869
25	CEBPB	chr1:74666607-74666817	HepG2	liver:	n/a	chr1:74666714-74666723 chr1:74666712-74666723
26	CEBPB	chr1:74646171-74646567	HepG2	liver:	n/a	chr1:74646354-74646365
27	CEBPB	chr1:74612578-74612853	A549	lung:	n/a	n/a
28	CEBPB	chr1:74468426-74468626	A549	lung:	n/a	chr1:74468476-74468489 chr1:74468476-74468487 chr1:74468476-74468489 chr1:74468476-74468489
29	CEBPB	chr1:74664885-74665549	K562	blood:	n/a	n/a
30	CEBPB	chr1:74646220-74646528	A549	lung:	n/a	chr1:74646354-74646365
31	CEBPB	chr1:74662337-74662650	K562	blood:	n/a	n/a
32	CEBPB	chr1:74584371-74584659	IMR90	lung:	n/a	chr1:74584485-74584496
33	CEBPB	chr1:74624760-74625022	IMR90	lung:	n/a	n/a
34	CEBPB	chr1:74573018-74573040	H1-hESC	embryonic stem cell:	n/a	n/a
35	CEBPB	chr1:74612576-74612806	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr1:74627195-74627555	IMR90	lung:	n/a	n/a
37	CEBPB	chr1:74457750-74457894	HepG2	liver:	n/a	n/a
38	CEBPB	chr1:74646254-74646475	HepG2	liver:	n/a	chr1:74646354-74646365
39	CEBPB	chr1:74663659-74664198	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr1:74607713-74607984	H1-hESC	embryonic stem cell:	n/a	chr1:74607858-74607869
41	CEBPB	chr1:74607706-74607960	A549	lung:	n/a	chr1:74607858-74607869
42	CEBPB	chr1:74584352-74584643	H1-hESC	embryonic stem cell:	n/a	chr1:74584485-74584496
43	CEBPB	chr1:74612627-74612820	K562	blood:	n/a	n/a
44	CEBPB	chr1:74612578-74612900	IMR90	lung:	n/a	n/a
45	CEBPB	chr1:74468309-74468652	HepG2	liver:	n/a	chr1:74468476-74468489 chr1:74468476-74468487 chr1:74468476-74468489 chr1:74468476-74468489
46	CEBPB	chr1:74607672-74608043	IMR90	lung:	n/a	chr1:74607858-74607869
47	CHD1	chr1:74663275-74664217	GM12878	blood:	n/a	n/a
48	CHD2	chr1:74663539-74664019	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr1:74663618-74664320	Hela-S3	cervix:	n/a	n/a
50	CHD2	chr1:74475936-74476188	Hela-S3	cervix:	n/a	n/a

(count:977 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:74620779-74620829	A549	lung:	n/a
2	chr1:74620779-74620829	A549	lung:	n/a
3	chr1:74663899-74663949	HL-60	blood:	n/a
4	chr1:74663921-74663971	HAEpiC	amniotic membrane:	n/a
5	chr1:74663636-74663686	Hela-S3	cervix:	n/a
6	chr1:74663297-74663347	HCF	heart:	n/a
7	chr1:74664160-74664210	SK-N-SH	brain:	n/a
8	chr1:74664132-74664182	BE2_C	brain:	n/a
9	chr1:74663921-74663971	T-47D	breast:	n/a
10	chr1:74663583-74663633	NB4	blood:	n/a
11	chr1:74663921-74663971	BJ	skin:	n/a
12	chr1:74665362-74665412	A549	lung:	n/a
13	chr1:74664160-74664210	AG10803	skin:	n/a
14	chr1:74663680-74663730	CMK	blood:	n/a
15	chr1:74666471-74666521	Hepatocyte	liver:	n/a
16	chr1:74663927-74663977	HRPEpiC	eye:	n/a
17	chr1:74663750-74663800	HPAEpiC	pulmonary alveolar:	n/a
18	chr1:74665362-74665412	HNPCEpiC	eye:	n/a
19	chr1:74620779-74620829	HRCEpiC	kidney:	n/a
20	chr1:74663750-74663800	AG04449	skin:	fetal
21	chr1:74663750-74663800	HUVEC	blood vessel:	n/a
22	chr1:74664061-74664111	HCF	heart:	n/a
23	chr1:74666471-74666521	NHBE	bronchial:	n/a
24	chr1:74663750-74663800	HMEC	breast:	n/a
25	chr1:74663899-74663949	Hepatocyte	liver:	n/a
26	chr1:74664061-74664111	PrEC	prostate:	n/a
27	chr1:74620779-74620829	Jurkat	blood:	n/a
28	chr1:74663297-74663347	AG10803	skin:	n/a
29	chr1:74664061-74664111	Caco-2	colon:	n/a
30	chr1:74664132-74664182	SK-N-MC	brain:	n/a
31	chr1:74445461-74445511	NHDF-neo	bronchial:	n/a
32	chr1:74664132-74664182	AoSMC	blood vessel:	n/a
33	chr1:74663680-74663730	PANC-1	pancreas:	n/a
34	chr1:74445461-74445511	HRPEpiC	eye:	n/a
35	chr1:74666471-74666521	MCF10A-Er-Src	breast:	n/a
36	chr1:74663680-74663730	GM12878	blood:	n/a
37	chr1:74665362-74665412	RPTEC	kidney:	n/a
38	chr1:74663921-74663971	SK-N-SH_RA	brain:	n/a
39	chr1:74663750-74663800	GM12892	blood:	n/a
40	chr1:74445461-74445511	HUVEC	blood vessel:	n/a
41	chr1:74663899-74663949	HRPEpiC	eye:	n/a
42	chr1:74663827-74663877	NHDF-neo	bronchial:	n/a
43	chr1:74665362-74665412	U87	brain:	n/a
44	chr1:74663921-74663971	HCT-116	colon:	n/a
45	chr1:74663921-74663971	H1-hESC	embryonic stem cell:	embryo
46	chr1:74663921-74663971	Jurkat	blood:	n/a
47	chr1:74665362-74665412	GM12878	blood:	n/a
48	chr1:74663899-74663949	HCT-116	colon:	n/a
49	chr1:74663583-74663633	GM12878	blood:	n/a
50	chr1:74663583-74663633	BJ	skin:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:74649322..74651054-chr1:74653302..74655077,2	K562	blood:
2	chr1:74532016..74533642-chr1:74533739..74535417,2	MCF-7	breast:
3	chr1:74532016..74533642-chr1:74533739..74535417,2	MCF-7	breast:
4	chr1:74610872..74613542-chr1:74663622..74665411,2	K562	blood:
5	chr1:74471005..74474027-chr1:74475988..74480230,3	K562	blood:
6	chr1:74678336..74683250-chr1:74684950..74687498,5	K562	blood:
7	chr1:74531200..74533536-chr1:74537407..74539060,2	K562	blood:
8	chr1:74663942..74664482-chr7:25219741..25220347,2	NB4	blood:
9	chr1:74670579..74674137-chr1:74674462..74677110,4	K562	blood:
10	chr1:74613777..74616581-chr1:74619059..74620965,2	K562	blood:
11	chr1:74677846..74679905-chr1:74682353..74684869,2	K562	blood:
12	chr1:74662960..74663950-chr9:131940135..131940948,2	Hela-S3	cervix:
13	chr1:74670579..74674137-chr1:74674462..74677110,4	K562	blood:
14	chr1:74662984..74666783-chr1:74668983..74674031,7	K562	blood:
15	chr1:74646951..74649028-chr1:74654609..74657361,2	K562	blood:
16	chr1:74664371..74665891-chr1:74684150..74685886,2	K562	blood:
17	chr1:74471005..74474027-chr1:74475988..74480230,3	K562	blood:
18	chr1:74656254..74659150-chr1:74661430..74664103,3	K562	blood:
19	chr1:74203558..74206334-chr1:74548002..74550871,2	K562	blood:
20	chr1:74663449..74664076-chr20:1306022..1306565,2	Hela-S3	cervix:
21	chr1:74531200..74533536-chr1:74537407..74539060,2	K562	blood:
22	chr1:74641537..74643099-chr1:74809509..74811733,2	K562	blood:
23	chr1:74662297..74664282-chr1:74667218..74669836,2	K562	blood:
24	chr1:74622416..74625063-chr1:74764779..74767346,2	K562	blood:
25	chr1:74613777..74616581-chr1:74619059..74620965,2	K562	blood:

(count:8 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC53-2	chr1:74645907-74649368	NONHSAT003957
2	lnc-LRRC53-2	chr1:74648222-74648306	NONHSAT003956
3	lnc-LRRC53-2	chr1:74575078-74575237	NONHSAT003955
4	lnc-LRRC53-2	chr1:74621417-74621533	NONHSAT003955
5	lnc-LRRC53-2	chr1:74621347-74621550	NONHSAT003956
6	lnc-LRRC53-2	chr1:74549477-74549900	NONHSAT003955
7	lnc-LRRC53-2	chr1:74560714-74560807	NONHSAT003955
8	lnc-LRRC53-2	chr1:74663680-74663831	NONHSAT003957

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	FPGT	hsa-miR-335-5p	chr1:74672969-74672991

Variant related genes	Relation type
LRRIQ3	TF binding region
TNNI3K	TF binding region
FPGT-TNNI3K	TF binding region
FPGT	TF binding region
LRRIQ3	CpG island
TNNI3K	CpG island
FPGT-TNNI3K	CpG island
FPGT	CpG island
ENSG00000125775	chromatin interactions
ENSG00000234684	chromatin interactions
ENSG00000116783	chromatin interactions
ENSG00000254685	chromatin interactions
ENSG00000162620	chromatin interactions
ENSG00000188483	chromatin interactions
ENSG00000153790	chromatin interactions
ENSG00000259030	chromatin interactions

Extended variants
information (count: 2536 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:2536 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568563316	chr1:74442210-74442211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6424569	chr1:74442233-74442234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs142385481	chr1:74442235-74442236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs566016635	chr1:74442268-74442269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs539718109	chr1:74442314-74442315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558146424	chr1:74442329-74442330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576389074	chr1:74442368-74442369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190427269	chr1:74442369-74442370	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377648916	chr1:74442412-74442413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562805279	chr1:74442419-74442420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574588500	chr1:74442443-74442444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541994484	chr1:74442458-74442459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560473108	chr1:74442490-74442491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527603842	chr1:74442496-74442497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs12138557	chr1:74442523-74442524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs181202074	chr1:74442571-74442572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561925507	chr1:74442596-74442597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141435135	chr1:74442666-74442667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370354681	chr1:74442697-74442698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs7555147	chr1:74442698-74442699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369346491	chr1:74442750-74442751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371146067	chr1:74442777-74442778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568531721	chr1:74442790-74442791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529496641	chr1:74442857-74442858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185023129	chr1:74442859-74442860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374386852	chr1:74442878-74442879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs565901530	chr1:74442879-74442880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374104053	chr1:74443002-74443003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539754746	chr1:74443005-74443006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs188617755	chr1:74443061-74443062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs180750346	chr1:74443142-74443143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146596947	chr1:74443197-74443198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556021216	chr1:74443215-74443216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574454450	chr1:74443238-74443239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs535171325	chr1:74443256-74443257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185097958	chr1:74443273-74443274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138998812	chr1:74443277-74443278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs377360541	chr1:74443319-74443320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572227129	chr1:74443382-74443383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546121248	chr1:74443458-74443459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs564369599	chr1:74443460-74443461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576398944	chr1:74443474-74443475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373725552	chr1:74443482-74443483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111927841	chr1:74443500-74443501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543782688	chr1:74443502-74443503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs539348234	chr1:74443520-74443521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200779881	chr1:74443527-74443528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12074349	chr1:74443530-74443531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529405181	chr1:74443556-74443557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs547446194	chr1:74443573-74443574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Colorectal cancer	16272173	CNVD
Wilms tumour	21544195	CNVD
Coronary Disease	20032323	CNVD
Prostate cancer	21965145	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Stargardt''s disease	17277736	CNVD
Neuroblastoma	17897457	CNVD
Uveal melanoma	21693616	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-syndromic sensorineural hearing loss	22290220	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	21264507	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	17387387	CNVD
Oligodendroglial tumors	17285580	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Neuroblastoma	17535989	CNVD
Pheochromocytoma	17535989	CNVD
Prostate cancer	16705090	CNVD
Astrocytoma	17934521	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Neuroblastoma	17533364	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21385341	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Chordoma	21602918	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Multiple myeloma	16461302	CNVD
Melanoma	17363583	CNVD
Cancer	21129771	CNVD
Autosomal dominant nocturnal frontal lobe epilepsy	18472482	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Thrombocytopenia-absent radius syndrome	21933853	CNVD
Psychiatric disorder	22848183	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hepatocellular carcinoma	16750200	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	20409316	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17393978	CNVD
Cervical cancer	21062161	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	16608533	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17133270	CNVD
Type 2 diabetes	21956041	CNVD
Uveal melanoma	20484589	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ewing''s sarcoma	17952124	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Poland''s syndrome	22110015	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Cancer	22429812	CNVD
Effusion lymphoma	18079361	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:74442200-74445400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:74444800-74445600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:74444800-74446000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:74444800-74446400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:74444800-74446400	Enhancers	Brain Hippocampus Middle	brain
6	chr1:74444800-74446600	Enhancers	Brain Substantia Nigra	brain
7	chr1:74445000-74445800	Enhancers	Brain Angular Gyrus	brain
8	chr1:74445000-74447000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:74445400-74445800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:74445400-74446600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:74445400-74446600	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr1:74445400-74447200	Enhancers	Fetal Heart	heart
13	chr1:74445400-74447200	Enhancers	Fetal Intestine Large	intestine
14	chr1:74445400-74447200	Enhancers	Fetal Intestine Small	intestine
15	chr1:74445600-74446200	Enhancers	Brain Cingulate Gyrus	brain
16	chr1:74445600-74446400	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr1:74445600-74446600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr1:74445600-74449200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:74446000-74446800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:74446000-74447000	Enhancers	Duodenum Mucosa	Duodenum
21	chr1:74446200-74447000	Enhancers	Stomach Mucosa	stomach
22	chr1:74446400-74447000	Enhancers	HSMMtube	muscle
23	chr1:74446800-74447200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:74447000-74448000	Weak transcription	Stomach Mucosa	stomach
25	chr1:74447000-74448400	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:74447200-74448200	Weak transcription	Fetal Intestine Small	intestine
27	chr1:74447200-74448400	Weak transcription	Fetal Intestine Large	intestine
28	chr1:74447200-74450000	Weak transcription	Fetal Heart	heart
29	chr1:74448200-74448400	Enhancers	Stomach Mucosa	stomach
30	chr1:74448200-74449200	Enhancers	Fetal Intestine Small	intestine
31	chr1:74448400-74448600	Enhancers	Duodenum Mucosa	Duodenum
32	chr1:74448400-74449000	Enhancers	Fetal Intestine Large	intestine
33	chr1:74463200-74463600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:74463400-74464200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:74463400-74464800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:74464000-74465400	Enhancers	Fetal Heart	heart
37	chr1:74465000-74465200	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr1:74465200-74466200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:74466200-74466400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:74466400-74467400	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:74467200-74469600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr1:74467400-74467600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:74467600-74468000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr1:74468000-74468600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr1:74468600-74468800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr1:74468800-74469400	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr1:74469400-74470200	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:74469600-74470600	Enhancers	Fetal Heart	heart
49	chr1:74469800-74471200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:74470200-74470600	Enhancers	Fetal Stomach	stomach

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