Variant report

Variant	nsv557120
Chromosome Location	chr12:4108513-4164815
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1012)
CpG islands
(count:734)
Chromatin interactive
region (count:36)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1012 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:4119106-4119663	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:4120788-4121300	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:4124124-4125041	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:4118493-4118603	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:4108507-4109079	HepG2	liver:	n/a	n/a
6	ATF2	chr12:4134349-4135229	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:4134558-4135078	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF3	chr12:4140372-4140785	A549	lung:	n/a	n/a
9	BACH1	chr12:4140290-4140842	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr12:4134324-4134939	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:4133353-4133460	H1-hESC	embryonic stem cell:	n/a	n/a
12	BCL11A	chr12:4134855-4135052	H1-hESC	embryonic stem cell:	n/a	n/a
13	BHLHE40	chr12:4123936-4125191	HepG2	liver:	n/a	chr12:4124102-4124111
14	BHLHE40	chr12:4134854-4135155	HepG2	liver:	n/a	n/a
15	BHLHE40	chr12:4140466-4140809	A549	lung:	n/a	n/a
16	BHLHE40	chr12:4140461-4140690	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:4120710-4121226	HepG2	liver:	n/a	n/a
18	BRCA1	chr12:4124436-4124593	HepG2	liver:	n/a	n/a
19	BRCA1	chr12:4140632-4140796	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr12:4146944-4147135	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr12:4145986-4146388	A549	lung:	n/a	chr12:4146324-4146335
22	CEBPB	chr12:4142416-4142729	IMR90	lung:	n/a	n/a
23	CEBPB	chr12:4135752-4135952	K562	blood:	n/a	chr12:4135810-4135821 chr12:4135812-4135821 chr12:4135810-4135823
24	CEBPB	chr12:4114725-4114911	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:4157392-4157708	IMR90	lung:	n/a	n/a
26	CEBPB	chr12:4157401-4157672	A549	lung:	n/a	n/a
27	CEBPB	chr12:4120752-4121329	HepG2	liver:	n/a	chr12:4121139-4121150 chr12:4121138-4121151
28	CEBPB	chr12:4136781-4136892	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:4142279-4142695	MCF-7	breast:	n/a	n/a
30	CEBPB	chr12:4146985-4147079	H1-hESC	embryonic stem cell:	n/a	n/a
31	CEBPB	chr12:4124104-4124916	HepG2	liver:	n/a	n/a
32	CEBPB	chr12:4142386-4142725	MCF-7	breast:	n/a	n/a
33	CEBPB	chr12:4119049-4119438	HepG2	liver:	n/a	n/a
34	CEBPB	chr12:4124180-4124865	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:4140002-4140904	ECC-1	luminal epithelium:	n/a	chr12:4140531-4140539
36	CEBPB	chr12:4135685-4135989	HepG2	liver:	n/a	chr12:4135810-4135821 chr12:4135812-4135821 chr12:4135810-4135823
37	CEBPB	chr12:4145949-4146182	HepG2	liver:	n/a	n/a
38	CEBPB	chr12:4157373-4157704	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:4124430-4124894	HepG2	liver:	n/a	n/a
40	CEBPB	chr12:4120862-4121142	HepG2	liver:	n/a	n/a
41	CEBPB	chr12:4135655-4135995	IMR90	lung:	n/a	chr12:4135810-4135821 chr12:4135812-4135821 chr12:4135810-4135823
42	CEBPB	chr12:4140511-4140733	Hela-S3	cervix:	n/a	chr12:4140531-4140539
43	CEBPB	chr12:4124484-4124753	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:4135742-4135944	H1-hESC	embryonic stem cell:	n/a	chr12:4135810-4135821 chr12:4135812-4135821 chr12:4135810-4135823
45	CEBPB	chr12:4135644-4136025	ECC-1	luminal epithelium:	n/a	chr12:4135810-4135821 chr12:4135812-4135821 chr12:4135810-4135823
46	CEBPD	chr12:4120792-4121157	HepG2	liver:	n/a	n/a
47	CEBPD	chr12:4124264-4124998	HepG2	liver:	n/a	n/a
48	CEBPZ	chr12:4124766-4124908	HepG2	liver:	n/a	n/a
49	CEBPZ	chr12:4123966-4124132	HepG2	liver:	n/a	n/a
50	CEBPZ	chr12:4120797-4120916	HepG2	liver:	n/a	n/a

(count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:4141193-4141243	AG04449	skin:	fetal
2	chr12:4140935-4140985	ovcar-3	ovarian:	n/a
3	chr12:4141193-4141243	AG04449	skin:	fetal
4	chr12:4140935-4140985	ovcar-3	ovarian:	n/a
5	chr12:4130186-4130236	GM12892	blood:	n/a
6	chr12:4140624-4140674	HCM	heart:	n/a
7	chr12:4130186-4130236	Caco-2	colon:	n/a
8	chr12:4141193-4141243	NT2-D1	testis:	n/a
9	chr12:4136722-4136772	NHDF-neo	bronchial:	n/a
10	chr12:4141193-4141243	ProgFib	skin:	n/a
11	chr12:4140935-4140985	HepG2	liver:	n/a
12	chr12:4128476-4128526	AG10803	skin:	n/a
13	chr12:4140935-4140985	HNPCEpiC	eye:	n/a
14	chr12:4144915-4144965	GM06990	blood:	n/a
15	chr12:4140935-4140985	MCF10A-Er-Src	breast:	n/a
16	chr12:4140935-4140985	HAEpiC	amniotic membrane:	n/a
17	chr12:4144915-4144965	IMR90	lung:	fetal
18	chr12:4140624-4140674	AG09319	gingival:	n/a
19	chr12:4140624-4140674	BJ	skin:	n/a
20	chr12:4156982-4157032	HCT-116	colon:	n/a
21	chr12:4144915-4144965	HRCEpiC	kidney:	n/a
22	chr12:4141051-4141101	HRPEpiC	eye:	n/a
23	chr12:4130186-4130236	HL-60	blood:	n/a
24	chr12:4141051-4141101	NH-A	brain:	n/a
25	chr12:4140624-4140674	RPTEC	kidney:	n/a
26	chr12:4141193-4141243	HIPEpiC	eye:	n/a
27	chr12:4141193-4141243	HEEpiC	esophagus:	n/a
28	chr12:4156982-4157032	RPTEC	kidney:	n/a
29	chr12:4141193-4141243	GM06990	blood:	n/a
30	chr12:4130186-4130236	K562	blood:	n/a
31	chr12:4140624-4140674	HRE	kidney:	n/a
32	chr12:4128476-4128526	SK-N-SH_RA	brain:	n/a
33	chr12:4130186-4130236	HepG2	liver:	n/a
34	chr12:4140243-4140293	H1-hESC	embryonic stem cell:	embryo
35	chr12:4140935-4140985	AG09309	skin:	n/a
36	chr12:4141193-4141243	ovcar-3	ovarian:	n/a
37	chr12:4140740-4140790	HMEC	breast:	n/a
38	chr12:4156982-4157032	PANC-1	pancreas:	n/a
39	chr12:4140935-4140985	K562	blood:	n/a
40	chr12:4136722-4136772	SK-N-SH	brain:	n/a
41	chr12:4140624-4140674	LNCaP	prostate:	n/a
42	chr12:4140993-4141043	SK-N-SH	brain:	n/a
43	chr12:4140243-4140293	NHDF-neo	bronchial:	n/a
44	chr12:4140243-4140293	AG09309	skin:	n/a
45	chr12:4144915-4144965	NH-A	brain:	n/a
46	chr12:4144915-4144965	NT2-D1	testis:	n/a
47	chr12:4141193-4141243	AoSMC	blood vessel:	n/a
48	chr12:4140993-4141043	K562	blood:	n/a
49	chr12:4140935-4140985	U87	brain:	n/a
50	chr12:4140740-4140790	Hepatocyte	liver:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:4107032..4110913-chr12:4140387..4144108,4	MCF-7	breast:
2	chr12:4108194..4110971-chr12:4140017..4143588,4	MCF-7	breast:
3	chr12:4140539..4143636-chr12:4143735..4147774,5	MCF-7	breast:
4	chr12:4068773..4069641-chr12:4120602..4121476,2	MCF-7	breast:
5	chr12:4114514..4116679-chr12:4138981..4141471,3	MCF-7	breast:
6	chr12:4105054..4105591-chr12:4144214..4145138,2	MCF-7	breast:
7	chr12:4106157..4109140-chr12:4146186..4148270,2	MCF-7	breast:
8	chr12:4107368..4109265-chr12:4110161..4111964,2	MCF-7	breast:
9	chr12:4120573..4121116-chr12:4140385..4140914,2	MCF-7	breast:
10	chr12:4119356..4123364-chr12:4140628..4144860,5	MCF-7	breast:
11	chr12:3994533..3995349-chr12:4146558..4147477,5	MCF-7	breast:
12	chr12:4108194..4110971-chr12:4140017..4143588,4	MCF-7	breast:
13	chr12:4137316..4139443-chr12:4140642..4142190,2	MCF-7	breast:
14	chr12:4104391..4106622-chr12:4107438..4109627,2	MCF-7	breast:
15	chr12:4137316..4139443-chr12:4140642..4142190,2	MCF-7	breast:
16	chr12:4105433..4107342-chr12:4107411..4109246,2	MCF-7	breast:
17	chr12:4120573..4121116-chr12:4140385..4140914,2	MCF-7	breast:
18	chr12:4108613..4110875-chr12:4120970..4124448,3	MCF-7	breast:
19	chr12:4114135..4116114-chr12:4121065..4122878,2	MCF-7	breast:
20	chr12:4107365..4111293-chr12:4136025..4140047,4	MCF-7	breast:
21	chr12:4105512..4107913-chr12:4141226..4143921,2	MCF-7	breast:
22	chr12:4107032..4110913-chr12:4140387..4144108,4	MCF-7	breast:
23	chr12:4114135..4116114-chr12:4121065..4122878,2	MCF-7	breast:
24	chr12:4106157..4109140-chr12:4146186..4148270,2	MCF-7	breast:
25	chr12:4119356..4123364-chr12:4140628..4144860,5	MCF-7	breast:
26	chr12:4107368..4109265-chr12:4110161..4111964,2	MCF-7	breast:
27	chr12:4125852..4128154-chr12:4379678..4381336,2	K562	blood:
28	chr12:4108613..4110875-chr12:4120970..4124448,3	MCF-7	breast:
29	chr12:4104866..4105694-chr12:4146224..4147590,16	MCF-7	breast:
30	chr12:4158340..4161445-chr12:4167937..4171532,3	K562	blood:
31	chr12:4152840..4154943-chr12:4156891..4158726,2	MCF-7	breast:
32	chr12:4107365..4111293-chr12:4136025..4140047,4	MCF-7	breast:
33	chr12:4140539..4143636-chr12:4143735..4147774,5	MCF-7	breast:
34	chr12:4114514..4116679-chr12:4138981..4141471,3	MCF-7	breast:
35	chr12:4152840..4154943-chr12:4156891..4158726,2	MCF-7	breast:
36	chr12:4156540..4159328-chr12:4165038..4167941,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCND2-2	chr12:4135151-4135196	ENSG00000256969
2	lnc-CCND2-2	chr12:4128280-4128305	NONHSAT025939
3	lnc-CCND2-4	chr12:4122858-4122921	NONHSAT025938
4	lnc-CCND2-2	chr12:4134129-4136056	NONHSAT025939
5	lnc-CCND2-4	chr12:4122101-4122280	NONHSAT025938
6	lnc-CCND2-2	chr12:4135388-4135824	ENSG00000256969
7	lnc-CCND2-2	chr12:4135388-4135779	ENSG00000256969
8	lnc-CCND2-2	chr12:4130143-4130247	ENSG00000256969
9	lnc-CCND2-4	chr12:4122858-4123013	NONHSAT025937
10	lnc-CCND2-4	chr12:4121971-4122321	NONHSAT025937

No data

Variant related genes	Relation type
ENSG00000256969	TF binding region
ENSG00000256969	CpG island

Extended variants
information (count: 2286 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:2286 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4766193	chr12:4108513-4108514	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114881848	chr12:4108530-4108531	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs569893542	chr12:4108596-4108597	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs532687772	chr12:4108618-4108619	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs552559929	chr12:4108641-4108642	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs566072643	chr12:4108662-4108663	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs536507599	chr12:4108673-4108674	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs190356481	chr12:4108674-4108675	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs568611926	chr12:4108683-4108684	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs181883121	chr12:4108762-4108763	Enhancers Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs556424207	chr12:4108845-4108846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185078997	chr12:4108910-4108911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs188277393	chr12:4108926-4108927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558777408	chr12:4108949-4108950	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558533167	chr12:4108977-4108978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369631919	chr12:4109030-4109031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572299956	chr12:4109069-4109070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540708150	chr12:4109086-4109087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373223621	chr12:4109101-4109102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112536101	chr12:4109102-4109103	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs574218221	chr12:4109106-4109107	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376475727	chr12:4109114-4109115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180683531	chr12:4109129-4109130	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77618407	chr12:4109136-4109137	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532527305	chr12:4109149-4109150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186120792	chr12:4109151-4109152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4765761	chr12:4109234-4109235	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs375708414	chr12:4109256-4109257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370070016	chr12:4109261-4109262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373496823	chr12:4109270-4109271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs540616029	chr12:4109276-4109277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376504313	chr12:4109282-4109283	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191040520	chr12:4109365-4109366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141824771	chr12:4109377-4109378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537568183	chr12:4109407-4109408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs114122026	chr12:4109414-4109415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs148613331	chr12:4109456-4109457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs563774866	chr12:4109553-4109554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150223286	chr12:4109561-4109562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538411314	chr12:4109577-4109578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs181474923	chr12:4109580-4109581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558706424	chr12:4109584-4109585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572283045	chr12:4109593-4109594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373580266	chr12:4109596-4109597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs375303880	chr12:4109628-4109629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186652977	chr12:4109633-4109634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs554163390	chr12:4109699-4109700	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574059523	chr12:4109745-4109746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs74058909	chr12:4109754-4109755	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs113790312	chr12:4109826-4109827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Epilepsy	21858020	CNVD
Colorectal cancer	19359472	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1295 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4099000-4109200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:4104000-4109800	Enhancers	Placenta	Placenta
3	chr12:4104000-4110200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:4104200-4109800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:4104600-4110000	Enhancers	HepG2	liver
6	chr12:4104800-4109800	Enhancers	Pancreas	Pancrea
7	chr12:4105000-4108600	Weak transcription	Fetal Stomach	stomach
8	chr12:4105200-4109800	Enhancers	Fetal Intestine Large	intestine
9	chr12:4105400-4109400	Enhancers	Primary T cells from cord blood	blood
10	chr12:4105400-4109800	Enhancers	Fetal Intestine Small	intestine
11	chr12:4105800-4108800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:4106800-4108800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:4106800-4109200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr12:4106800-4109800	Enhancers	Fetal Muscle Leg	muscle
15	chr12:4107000-4108600	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr12:4107000-4112600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:4107400-4108800	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:4107400-4109400	Enhancers	Fetal Thymus	thymus
19	chr12:4107400-4109600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:4107400-4109800	Enhancers	NHEK	skin
21	chr12:4107600-4110000	Enhancers	HMEC	breast
22	chr12:4107600-4121600	Weak transcription	Esophagus	oesophagus
23	chr12:4107800-4108800	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr12:4107800-4109400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:4108000-4109800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:4108200-4109200	Enhancers	Primary hematopoietic stem cells	blood
28	chr12:4108200-4110000	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr12:4108400-4108600	Bivalent Enhancer	HSMM	muscle
30	chr12:4108400-4108800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:4108400-4108800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:4108400-4108800	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr12:4108400-4108800	Active TSS	Spleen	Spleen
35	chr12:4108400-4109000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:4108400-4109000	Enhancers	Stomach Mucosa	stomach
37	chr12:4108400-4109400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:4108600-4108800	Enhancers	Fetal Stomach	stomach
39	chr12:4108600-4109000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr12:4108800-4109000	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:4108800-4109000	Enhancers	Duodenum Mucosa	Duodenum
42	chr12:4108800-4109400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr12:4108800-4111000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr12:4108800-4111000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:4109200-4109400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr12:4109400-4121000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:4109600-4112000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:4109800-4111000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:4109800-4111600	Weak transcription	Fetal Intestine Large	intestine
50	chr12:4109800-4111800	Weak transcription	Pancreas	Pancrea

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