Variant report

Variant	nsv874147
Chromosome Location	chr2:53772561-53886799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:488)
CpG islands
(count:244)
Chromatin interactive
region (count:36)
LncRNA
region (count:9)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:53860684-53860904	HepG2	liver:	n/a	n/a
2	ATF3	chr2:53786715-53787135	HCT-116	colon:	n/a	n/a
3	ATF3	chr2:53786595-53787107	HCT-116	colon:	n/a	n/a
4	BACH1	chr2:53859519-53859695	K562	blood:	n/a	n/a
5	BHLHE40	chr2:53844416-53844753	HepG2	liver:	n/a	n/a
6	BHLHE40	chr2:53788428-53788646	HepG2	liver:	n/a	n/a
7	BHLHE40	chr2:53844382-53844751	K562	blood:	n/a	n/a
8	BRCA1	chr2:53786689-53787220	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr2:53789639-53789689	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr2:53786670-53787211	HCT-116	colon:	n/a	n/a
11	CEBPB	chr2:53804303-53804543	HepG2	liver:	n/a	chr2:53804453-53804464
12	CEBPB	chr2:53843103-53843305	HepG2	liver:	n/a	chr2:53843251-53843264 chr2:53843252-53843263
13	CEBPB	chr2:53824394-53824714	HepG2	liver:	n/a	chr2:53824617-53824628 chr2:53824562-53824573 chr2:53824621-53824632 chr2:53824524-53824535 chr2:53824621-53824632
14	CEBPB	chr2:53789525-53790053	A549	lung:	n/a	chr2:53789749-53789760
15	CEBPB	chr2:53795600-53796008	A549	lung:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
16	CEBPB	chr2:53810690-53810961	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:53880927-53880953	A549	lung:	n/a	n/a
18	CEBPB	chr2:53786621-53787131	Hela-S3	cervix:	n/a	chr2:53786937-53786948
19	CEBPB	chr2:53786518-53787262	HCT-116	colon:	n/a	chr2:53786937-53786948
20	CEBPB	chr2:53795595-53795940	Hela-S3	cervix:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
21	CEBPB	chr2:53795596-53795941	A549	lung:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
22	CEBPB	chr2:53789661-53789917	H1-hESC	embryonic stem cell:	n/a	chr2:53789749-53789760
23	CEBPB	chr2:53789566-53789937	HepG2	liver:	n/a	chr2:53789749-53789760
24	CEBPB	chr2:53789634-53789824	HepG2	liver:	n/a	chr2:53789749-53789760
25	CEBPB	chr2:53837658-53837919	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:53795619-53795883	MCF-7	breast:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
27	CEBPB	chr2:53795638-53795866	K562	blood:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
28	CEBPB	chr2:53879167-53879375	IMR90	lung:	n/a	n/a
29	CEBPB	chr2:53789584-53789940	A549	lung:	n/a	chr2:53789749-53789760
30	CEBPB	chr2:53786629-53787116	MCF-7	breast:	n/a	chr2:53786937-53786948
31	CEBPB	chr2:53860000-53860240	IMR90	lung:	n/a	n/a
32	CEBPB	chr2:53795583-53795925	IMR90	lung:	n/a	chr2:53795748-53795761 chr2:53795749-53795760 chr2:53795750-53795759
33	CEBPB	chr2:53879110-53879356	A549	lung:	n/a	n/a
34	CEBPB	chr2:53832665-53832917	Hela-S3	cervix:	n/a	n/a
35	CEBPB	chr2:53781633-53781847	HepG2	liver:	n/a	chr2:53781767-53781778
36	CEBPB	chr2:53859980-53860232	HepG2	liver:	n/a	n/a
37	CEBPB	chr2:53869609-53869819	A549	lung:	n/a	chr2:53869741-53869750 chr2:53869751-53869762 chr2:53869739-53869750 chr2:53869753-53869764
38	CEBPB	chr2:53804310-53804615	K562	blood:	n/a	chr2:53804453-53804464
39	CEBPB	chr2:53843184-53843303	IMR90	lung:	n/a	chr2:53843251-53843264 chr2:53843252-53843263
40	CEBPB	chr2:53789527-53789962	Hela-S3	cervix:	n/a	chr2:53789749-53789760
41	CEBPB	chr2:53789569-53789929	IMR90	lung:	n/a	chr2:53789749-53789760
42	CEBPB	chr2:53879243-53879291	Hela-S3	cervix:	n/a	n/a
43	CEBPB	chr2:53789454-53789990	MCF-7	breast:	n/a	chr2:53789749-53789760
44	CEBPB	chr2:53857472-53857527	HepG2	liver:	n/a	n/a
45	CEBPB	chr2:53789530-53789931	MCF-7	breast:	n/a	chr2:53789749-53789760
46	CEBPB	chr2:53853060-53853166	HepG2	liver:	n/a	chr2:53853090-53853101
47	CEBPB	chr2:53786770-53787081	HepG2	liver:	n/a	chr2:53786937-53786948
48	CEBPB	chr2:53843211-53843390	K562	blood:	n/a	chr2:53843251-53843264 chr2:53843252-53843263
49	CEBPB	chr2:53824449-53824637	Hela-S3	cervix:	n/a	chr2:53824617-53824628 chr2:53824562-53824573 chr2:53824621-53824632 chr2:53824524-53824535 chr2:53824621-53824632
50	CEBPB	chr2:53789476-53789920	HCT-116	colon:	n/a	chr2:53789749-53789760

(count:244 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:53814261-53814311	NT2-D1	testis:	n/a
2	chr2:53814537-53814587	GM12892	blood:	n/a
3	chr2:53803878-53803928	HEEpiC	esophagus:	n/a
4	chr2:53868889-53868939	A549	lung:	n/a
5	chr2:53814537-53814587	GM12878	blood:	n/a
6	chr2:53868889-53868939	HEEpiC	esophagus:	n/a
7	chr2:53868889-53868939	HRCEpiC	kidney:	n/a
8	chr2:53803878-53803928	LNCaP	prostate:	n/a
9	chr2:53868889-53868939	AG04450	lung:	fetal
10	chr2:53814537-53814587	AG04450	lung:	fetal
11	chr2:53814261-53814311	HEK293	kidney:	embryo
12	chr2:53814261-53814311	NHBE	bronchial:	n/a
13	chr2:53868889-53868939	MCF10A-Er-Src	breast:	n/a
14	chr2:53868889-53868939	SK-N-SH_RA	brain:	n/a
15	chr2:53814537-53814587	HEEpiC	esophagus:	n/a
16	chr2:53814261-53814311	HRCEpiC	kidney:	n/a
17	chr2:53814261-53814311	LNCaP	prostate:	n/a
18	chr2:53803878-53803928	Jurkat	blood:	n/a
19	chr2:53868889-53868939	PrEC	prostate:	n/a
20	chr2:53803878-53803928	HRPEpiC	eye:	n/a
21	chr2:53814537-53814587	ECC-1	luminal epithelium:	n/a
22	chr2:53803878-53803928	MCF-7	breast:	n/a
23	chr2:53868889-53868939	HCPEpiC	choroid plexus:	n/a
24	chr2:53868889-53868939	AoSMC	blood vessel:	n/a
25	chr2:53814261-53814311	PANC-1	pancreas:	n/a
26	chr2:53868889-53868939	PANC-1	pancreas:	n/a
27	chr2:53803878-53803928	NT2-D1	testis:	n/a
28	chr2:53868889-53868939	HCF	heart:	n/a
29	chr2:53814537-53814587	HRCEpiC	kidney:	n/a
30	chr2:53814537-53814587	AoSMC	blood vessel:	n/a
31	chr2:53814261-53814311	AG04450	lung:	fetal
32	chr2:53814537-53814587	AG09319	gingival:	n/a
33	chr2:53803878-53803928	PANC-1	pancreas:	n/a
34	chr2:53814537-53814587	HCM	heart:	n/a
35	chr2:53868889-53868939	HEK293	kidney:	embryo
36	chr2:53803878-53803928	AG09309	skin:	n/a
37	chr2:53814261-53814311	AG09309	skin:	n/a
38	chr2:53868889-53868939	Caco-2	colon:	n/a
39	chr2:53814261-53814311	HL-60	blood:	n/a
40	chr2:53868889-53868939	U87	brain:	n/a
41	chr2:53814261-53814311	H1-hESC	embryonic stem cell:	embryo
42	chr2:53868889-53868939	MCF-7	breast:	n/a
43	chr2:53803878-53803928	HL-60	blood:	n/a
44	chr2:53814537-53814587	HL-60	blood:	n/a
45	chr2:53803878-53803928	GM12891	blood:	n/a
46	chr2:53803878-53803928	NH-A	brain:	n/a
47	chr2:53814261-53814311	RPTEC	kidney:	n/a
48	chr2:53803878-53803928	MCF10A-Er-Src	breast:	n/a
49	chr2:53814261-53814311	A549	lung:	n/a
50	chr2:53814537-53814587	HCT-116	colon:	n/a

(count:36 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:53764669..53766504-chr2:53770937..53773630,2	K562	blood:
2	chr2:53863876..53866246-chr2:53873113..53875135,2	K562	blood:
3	chr2:53838050..53841676-chr2:53842441..53845129,3	K562	blood:
4	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:
5	chr2:53858725..53860419-chr2:53862763..53864287,2	K562	blood:
6	chr2:53847289..53849518-chr2:53852556..53854797,2	K562	blood:
7	chr2:53847289..53849518-chr2:53852556..53854797,2	K562	blood:
8	chr2:53780507..53782864-chr2:53992929..53994536,2	K562	blood:
9	chr2:53800207..53803097-chr2:53806024..53807990,2	K562	blood:
10	chr2:53800207..53803097-chr2:53806024..53807990,2	K562	blood:
11	chr2:53838050..53841676-chr2:53842441..53845129,3	K562	blood:
12	chr2:53791197..53793053-chr2:53794870..53797027,2	K562	blood:
13	chr2:53791197..53793053-chr2:53794870..53797027,2	K562	blood:
14	chr2:53807910..53809861-chr2:53812392..53815157,2	K562	blood:
15	chr2:53882348..53885519-chr2:53886263..53888852,3	K562	blood:
16	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
17	chr2:53837091..53839319-chr2:53840310..53842800,2	K562	blood:
18	chr2:53883597..53885623-chr2:53885808..53888099,2	MCF-7	breast:
19	chr2:53771758..53774525-chr2:53776196..53777860,2	MCF-7	breast:
20	chr2:53883597..53885623-chr2:53885808..53888099,2	MCF-7	breast:
21	chr2:53807910..53809861-chr2:53812392..53815157,2	K562	blood:
22	chr2:53804711..53806458-chr2:53809800..53812091,2	MCF-7	breast:
23	chr2:53795938..53798218-chr2:53812190..53814681,2	K562	blood:
24	chr2:53771758..53774525-chr2:53776196..53777860,2	MCF-7	breast:
25	chr2:53863042..53865954-chr2:54012885..54015128,2	K562	blood:
26	chr2:53774246..53775776-chr2:53777337..53778910,2	K562	blood:
27	chr2:53802111..53805957-chr2:53807457..53810844,3	K562	blood:
28	chr2:53763474..53765231-chr2:53774418..53775976,2	K562	blood:
29	chr2:53804711..53806458-chr2:53809800..53812091,2	MCF-7	breast:
30	chr2:53863876..53866246-chr2:53873113..53875135,2	K562	blood:
31	chr2:53774246..53775776-chr2:53777337..53778910,2	K562	blood:
32	chr2:53883186..53885519-chr2:53886263..53888852,2	K562	blood:
33	chr2:53837091..53839319-chr2:53840310..53842800,2	K562	blood:
34	chr2:53802111..53805957-chr2:53807457..53810844,3	K562	blood:
35	chr2:53858725..53860419-chr2:53862763..53864287,2	K562	blood:
36	chr2:53796597..53798405-chr2:53800976..53803366,2	MCF-7	breast:

(count:9 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPR75-6	chr2:53831784-53832052	NONHSAT070690
2	lnc-GPR75-6	chr2:53833559-53833596	NONHSAT070690
3	lnc-GPR75-6	chr2:53833057-53833215	NONHSAT070689
4	lnc-GPR75-6	chr2:53831895-53832052	NONHSAT070689
5	lnc-GPR75-6	chr2:53833057-53833217	NONHSAT070690
6	lnc-GPR75-6	chr2:53808341-53808515	NONHSAT070689
7	lnc-GPR75-6	chr2:53830522-53830655	NONHSAT070689
8	lnc-GPR75-5	chr2:53843602-53845521	ucscGeneNc_uc002rxj_1
9	lnc-GPR75-6	chr2:53831411-53831558	NONHSAT070689

No data

Variant related genes	Relation type
ENSG00000264740	TF binding region
RNU6-997P	TF binding region
GPR75-ASB3	TF binding region
ENSG00000264740	CpG island
RNU6-997P	CpG island
GPR75-ASB3	CpG island
ENSG00000068912	chromatin interactions
ENSG00000207456	chromatin interactions
ENSG00000115239	chromatin interactions

Extended variants
information (count: 4383 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:4383 , 50 per page) page: 1 2 3 4 5 6 7 ... 88

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2287511	chr2:53772561-53772562	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs553718245	chr2:53772565-53772566	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189946638	chr2:53772569-53772570	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181633612	chr2:53772617-53772618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541576899	chr2:53772657-53772658	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556187977	chr2:53772670-53772671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576117853	chr2:53772688-53772689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545079806	chr2:53772692-53772693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77075459	chr2:53772724-53772725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527413464	chr2:53772769-53772770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146207889	chr2:53772806-53772807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs374299209	chr2:53772808-53772809	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs74594815	chr2:53772813-53772814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530408903	chr2:53772834-53772835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs372325754	chr2:53772874-53772875	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs550214785	chr2:53772902-53772903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11887320	chr2:53772928-53772929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs11887357	chr2:53772973-53772974	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs562017672	chr2:53773035-53773036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142347702	chr2:53773072-53773073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565819714	chr2:53773082-53773083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs531203208	chr2:53773109-53773110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551388294	chr2:53773117-53773118	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185177664	chr2:53773163-53773164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs77996695	chr2:53773281-53773282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567390784	chr2:53773290-53773291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536508094	chr2:53773291-53773292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556502113	chr2:53773300-53773301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527510534	chr2:53773364-53773365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576081143	chr2:53773395-53773396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10175727	chr2:53773401-53773402	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs558611726	chr2:53773418-53773419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374683394	chr2:53773419-53773420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs145940292	chr2:53773430-53773431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561490796	chr2:53773449-53773450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574935418	chr2:53773539-53773540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543679033	chr2:53773587-53773588	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369892091	chr2:53773590-53773591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs139600645	chr2:53773597-53773598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs532701947	chr2:53773647-53773648	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536780852	chr2:53773656-53773657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149749428	chr2:53773696-53773697	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559368321	chr2:53773734-53773735	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528577075	chr2:53773753-53773754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111545515	chr2:53773758-53773759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs567409776	chr2:53773766-53773767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536081836	chr2:53773777-53773778	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4672481	chr2:53773801-53773802	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs148451460	chr2:53773810-53773811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10176112	chr2:53773818-53773819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:68)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21147756	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53771400-53778000	Enhancers	Fetal Brain Male	brain
2	chr2:53771600-53774200	Enhancers	Fetal Brain Female	brain
3	chr2:53771600-53774600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:53771800-53773600	Enhancers	Brain Germinal Matrix	brain
5	chr2:53771800-53774000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:53772000-53772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:53772000-53773200	Enhancers	HMEC	breast
8	chr2:53772000-53773200	Enhancers	NHEK	skin
9	chr2:53772200-53773200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:53772200-53774200	Enhancers	Brain Angular Gyrus	brain
11	chr2:53772200-53774800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:53772400-53772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:53772400-53772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:53772400-53773000	Enhancers	Fetal Stomach	stomach
15	chr2:53772400-53773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:53772400-53773400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:53772400-53774000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr2:53772600-53772800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:53772600-53773600	Enhancers	Brain Substantia Nigra	brain
20	chr2:53773000-53773200	Enhancers	Esophagus	oesophagus
21	chr2:53773000-53773200	Enhancers	Left Ventricle	heart
22	chr2:53773000-53774400	Enhancers	Pancreatic Islets	Pancreatic Islet
23	chr2:53773200-53773400	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:53773200-53776800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr2:53773200-53776800	Weak transcription	Left Ventricle	heart
26	chr2:53773400-53773800	Enhancers	Brain Anterior Caudate	brain
27	chr2:53773800-53774800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:53774000-53774200	Enhancers	Brain Cingulate Gyrus	brain
29	chr2:53774000-53774600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr2:53774200-53776600	Weak transcription	Fetal Brain Female	brain
31	chr2:53776200-53777600	Enhancers	Fetal Heart	heart
32	chr2:53776600-53777000	Enhancers	Fetal Brain Female	brain
33	chr2:53776800-53777000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr2:53776800-53777000	Enhancers	Left Ventricle	heart
35	chr2:53776800-53777200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr2:53777000-53780800	Weak transcription	Left Ventricle	heart
37	chr2:53780200-53780400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr2:53780600-53781000	Enhancers	Right Ventricle	heart
39	chr2:53780600-53782400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr2:53780800-53781200	Enhancers	Left Ventricle	heart
41	chr2:53780800-53782400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
42	chr2:53781000-53781400	ZNF genes & repeats	Right Ventricle	heart
43	chr2:53781400-53782200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
44	chr2:53781400-53782400	Weak transcription	Right Ventricle	heart
45	chr2:53782400-53782600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:53782400-53782600	Enhancers	Right Ventricle	heart
47	chr2:53782600-53783000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr2:53784600-53784800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr2:53784800-53786400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:53786400-53787000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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