Variant report

Variant	nsv832376
Chromosome Location	chr12:39633080-39808277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1295)
CpG islands
(count:427)
Chromatin interactive
region (count:124)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:39708632-39708643	K562	blood:	n/a	n/a
2	ARID3A	chr12:39795806-39796000	K562	blood:	n/a	n/a
3	ARID3A	chr12:39782854-39783156	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:39726981-39727045	K562	blood:	n/a	n/a
5	ARID3A	chr12:39734843-39735216	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:39713017-39713303	HepG2	liver:	n/a	n/a
7	ATF1	chr12:39681654-39681982	K562	blood:	n/a	n/a
8	ATF2	chr12:39796658-39797164	GM12878	blood:	n/a	n/a
9	ATF2	chr12:39796699-39797138	GM12878	blood:	n/a	n/a
10	ATF2	chr12:39734914-39735478	GM12878	blood:	n/a	n/a
11	ATF2	chr12:39799352-39799893	GM12878	blood:	n/a	n/a
12	ATF2	chr12:39805997-39806276	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr12:39748780-39749070	K562	blood:	n/a	n/a
14	BACH1	chr12:39713137-39713293	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr12:39734939-39735488	GM12878	blood:	n/a	n/a
16	BATF	chr12:39693284-39693435	GM12878	blood:	n/a	n/a
17	BATF	chr12:39796711-39797093	GM12878	blood:	n/a	n/a
18	BATF	chr12:39671281-39671667	GM12878	blood:	n/a	n/a
19	BATF	chr12:39693282-39693429	GM12878	blood:	n/a	n/a
20	BATF	chr12:39799433-39799649	GM12878	blood:	n/a	n/a
21	BATF	chr12:39671306-39671625	GM12878	blood:	n/a	n/a
22	BATF	chr12:39766731-39767112	GM12878	blood:	n/a	chr12:39766904-39766915
23	BATF	chr12:39734956-39735511	GM12878	blood:	n/a	n/a
24	BATF	chr12:39799464-39799712	GM12878	blood:	n/a	n/a
25	BCL11A	chr12:39796774-39797080	GM12878	blood:	n/a	n/a
26	BCL11A	chr12:39806047-39806291	H1-hESC	embryonic stem cell:	n/a	n/a
27	BCL11A	chr12:39734955-39735370	GM12878	blood:	n/a	n/a
28	BCL3	chr12:39796625-39797106	GM12878	blood:	n/a	n/a
29	BCLAF1	chr12:39766698-39767293	GM12878	blood:	n/a	n/a
30	BCLAF1	chr12:39799348-39799832	GM12878	blood:	n/a	n/a
31	BHLHE40	chr12:39671371-39671521	GM12878	blood:	n/a	n/a
32	BHLHE40	chr12:39796808-39796933	GM12878	blood:	n/a	n/a
33	BHLHE40	chr12:39799647-39799790	GM12878	blood:	n/a	n/a
34	BHLHE40	chr12:39667041-39667224	GM12878	blood:	n/a	n/a
35	BRCA1	chr12:39786988-39787111	GM12878	blood:	n/a	n/a
36	BRCA1	chr12:39694055-39694061	GM12878	blood:	n/a	n/a
37	CEBPB	chr12:39671277-39671610	HepG2	liver:	n/a	chr12:39671434-39671447 chr12:39671434-39671447 chr12:39671434-39671445 chr12:39671436-39671447
38	CEBPB	chr12:39681660-39682018	K562	blood:	n/a	chr12:39681826-39681837
39	CEBPB	chr12:39708432-39708620	A549	lung:	n/a	chr12:39708518-39708529
40	CEBPB	chr12:39681517-39682075	A549	lung:	n/a	chr12:39681826-39681837
41	CEBPB	chr12:39788361-39788665	HepG2	liver:	n/a	chr12:39788508-39788519 chr12:39788507-39788518
42	CEBPB	chr12:39671259-39671594	MCF-7	breast:	n/a	chr12:39671434-39671447 chr12:39671434-39671447 chr12:39671434-39671445 chr12:39671436-39671447
43	CEBPB	chr12:39681750-39681908	HepG2	liver:	n/a	chr12:39681826-39681837
44	CEBPB	chr12:39788373-39788625	A549	lung:	n/a	chr12:39788508-39788519 chr12:39788507-39788518
45	CEBPB	chr12:39712964-39713245	MCF-7	breast:	n/a	chr12:39713116-39713127
46	CEBPB	chr12:39681650-39682021	IMR90	lung:	n/a	chr12:39681826-39681837
47	CEBPB	chr12:39681629-39681971	K562	blood:	n/a	chr12:39681826-39681837
48	CEBPB	chr12:39671272-39671617	A549	lung:	n/a	chr12:39671434-39671447 chr12:39671434-39671447 chr12:39671434-39671445 chr12:39671436-39671447
49	CEBPB	chr12:39708398-39708605	HepG2	liver:	n/a	chr12:39708518-39708529
50	CEBPB	chr12:39724202-39724401	HepG2	liver:	n/a	chr12:39724314-39724325 chr12:39724316-39724327

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:39763210-39763260	PrEC	prostate:	n/a
2	chr12:39763210-39763260	T-47D	breast:	n/a
3	chr12:39727030-39727080	A549	lung:	n/a
4	chr12:39727030-39727080	T-47D	breast:	n/a
5	chr12:39763210-39763260	HEEpiC	esophagus:	n/a
6	chr12:39787968-39788018	HUVEC	blood vessel:	n/a
7	chr12:39787968-39788018	CMK	blood:	n/a
8	chr12:39800627-39800677	GM12892	blood:	n/a
9	chr12:39687917-39687967	ovcar-3	ovarian:	n/a
10	chr12:39800627-39800677	LNCaP	prostate:	n/a
11	chr12:39706834-39706884	HepG2	liver:	n/a
12	chr12:39687917-39687967	HepG2	liver:	n/a
13	chr12:39787968-39788018	AoSMC	blood vessel:	n/a
14	chr12:39687917-39687967	GM12891	blood:	n/a
15	chr12:39706834-39706884	RPTEC	kidney:	n/a
16	chr12:39687917-39687967	HAEpiC	amniotic membrane:	n/a
17	chr12:39706834-39706884	AG09309	skin:	n/a
18	chr12:39763210-39763260	HMEC	breast:	n/a
19	chr12:39763210-39763260	IMR90	lung:	fetal
20	chr12:39726715-39726765	Hela-S3	cervix:	n/a
21	chr12:39727030-39727080	BE2_C	brain:	n/a
22	chr12:39706834-39706884	PrEC	prostate:	n/a
23	chr12:39687917-39687967	LNCaP	prostate:	n/a
24	chr12:39687917-39687967	MCF-7	breast:	n/a
25	chr12:39727030-39727080	AoSMC	blood vessel:	n/a
26	chr12:39727030-39727080	HUVEC	blood vessel:	n/a
27	chr12:39727030-39727080	GM12892	blood:	n/a
28	chr12:39763210-39763260	GM12878	blood:	n/a
29	chr12:39687917-39687967	AG04450	lung:	fetal
30	chr12:39706834-39706884	SAEC	small airway:	n/a
31	chr12:39763210-39763260	HRPEpiC	eye:	n/a
32	chr12:39763210-39763260	HCM	heart:	n/a
33	chr12:39706834-39706884	AoSMC	blood vessel:	n/a
34	chr12:39706834-39706884	HCT-116	colon:	n/a
35	chr12:39706834-39706884	T-47D	breast:	n/a
36	chr12:39787968-39788018	SK-N-SH_RA	brain:	n/a
37	chr12:39706834-39706884	HUVEC	blood vessel:	n/a
38	chr12:39727030-39727080	AG09309	skin:	n/a
39	chr12:39726715-39726765	HIPEpiC	eye:	n/a
40	chr12:39726715-39726765	NHBE	bronchial:	n/a
41	chr12:39787968-39788018	RPTEC	kidney:	n/a
42	chr12:39706834-39706884	ProgFib	skin:	n/a
43	chr12:39800627-39800677	NHDF-neo	bronchial:	n/a
44	chr12:39706834-39706884	SK-N-SH	brain:	n/a
45	chr12:39763210-39763260	NB4	blood:	n/a
46	chr12:39727030-39727080	AG04450	lung:	fetal
47	chr12:39687917-39687967	ECC-1	luminal epithelium:	n/a
48	chr12:39763210-39763260	AG04449	skin:	fetal
49	chr12:39726715-39726765	NH-A	brain:	n/a
50	chr12:39763210-39763260	HRCEpiC	kidney:	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:39806434..39808790-chr12:39833185..39835249,2	K562	blood:
2	chr12:39735428..39738305-chr12:39770401..39772553,2	K562	blood:
3	chr12:39770581..39773028-chr12:39775151..39777027,2	K562	blood:
4	chr12:39724474..39727162-chr12:39736483..39738898,2	K562	blood:
5	chr12:39705679..39708570-chr12:39709976..39712207,2	MCF-7	breast:
6	chr12:39747731..39750258-chr12:39836308..39838380,2	K562	blood:
7	chr12:39796736..39799159-chr12:39806907..39808655,2	K562	blood:
8	chr12:39708198..39710149-chr12:39835781..39837977,2	MCF-7	breast:
9	chr12:39694207..39696152-chr12:39837237..39840087,2	K562	blood:
10	chr12:39719395..39721529-chr12:39835962..39838768,2	MCF-7	breast:
11	chr12:39701621..39703209-chr12:39709361..39712125,2	K562	blood:
12	chr12:39796736..39799159-chr12:39806907..39808655,2	K562	blood:
13	chr12:39804413..39806857-chr12:39807005..39809707,2	K562	blood:
14	chr12:39775693..39777906-chr12:39834748..39837680,3	K562	blood:
15	chr12:39784633..39788139-chr12:39834968..39838023,4	MCF-7	breast:
16	chr12:39771043..39772683-chr12:39784560..39786078,2	MCF-7	breast:
17	chr12:39797310..39800698-chr12:39836050..39838671,5	K562	blood:
18	chr12:39783416..39787534-chr12:39834798..39837698,4	MCF-7	breast:
19	chr12:39742374..39745219-chr12:39747056..39748871,3	K562	blood:
20	chr12:39766807..39768997-chr12:39769052..39771333,2	MCF-7	breast:
21	chr12:39755090..39757754-chr12:39764621..39766612,2	MCF-7	breast:
22	chr12:39764517..39769063-chr12:39834166..39838574,6	K562	blood:
23	chr12:39792266..39793961-chr12:39796104..39798981,2	MCF-7	breast:
24	chr12:39759019..39759794-chr12:39928934..39929706,2	MCF-7	breast:
25	chr12:39707343..39709850-chr12:39833796..39835957,2	K562	blood:
26	chr12:39768164..39770883-chr12:39771123..39773923,3	K562	blood:
27	chr12:39706735..39709135-chr12:39713252..39715316,2	K562	blood:
28	chr12:39774786..39777930-chr12:39781565..39783444,3	K562	blood:
29	chr12:39743944..39745971-chr12:39833401..39836053,2	K562	blood:
30	chr12:39799457..39802388-chr12:39827395..39829929,2	K562	blood:
31	chr12:39759346..39760264-chr12:39836545..39837409,2	MCF-7	breast:
32	chr12:39708222..39708926-chr12:39836719..39837524,2	MCF-7	breast:
33	chr12:39793372..39796238-chr12:39806830..39809770,2	K562	blood:
34	chr12:39723120..39728244-chr12:39834929..39837982,4	MCF-7	breast:
35	chr12:39685600..39687183-chr12:39700503..39702703,2	K562	blood:
36	chr12:39748533..39750921-chr12:39755964..39757616,2	K562	blood:
37	chr12:39806881..39808791-chr12:39811167..39813335,2	K562	blood:
38	chr12:39757176..39762110-chr12:39835391..39838507,4	MCF-7	breast:
39	chr12:39708256..39710912-chr12:39833762..39835679,2	MCF-7	breast:
40	chr12:39736502..39739070-chr12:39744339..39745945,2	K562	blood:
41	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:
42	chr12:39773191..39777479-chr12:39835650..39838294,4	K562	blood:
43	chr12:38722084..38722866-chr12:39667246..39667987,2	MCF-7	breast:
44	chr12:39788415..39791571-chr12:39793998..39797026,3	K562	blood:
45	chr12:39752339..39754010-chr12:39754627..39757326,2	K562	blood:
46	chr12:39725322..39729241-chr12:39730380..39734731,5	K562	blood:
47	chr12:39766807..39768997-chr12:39769052..39771333,2	MCF-7	breast:
48	chr12:39786953..39789254-chr12:39835889..39837939,2	K562	blood:
49	chr12:39807290..39809220-chr12:39833749..39836763,3	K562	blood:
50	chr12:39741674..39745219-chr12:39746773..39748556,3	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf40-3	chr12:39721864-39722713	NONHSAT027701
2	lnc-C12orf40-3	chr12:39721472-39721634	NONHSAT027701
3	lnc-ABCD2-5	chr12:39751050-39751089	NONHSAT027704
4	lnc-C12orf40-3	chr12:39720338-39720424	NONHSAT027701
5	lnc-C12orf40-4	chr12:39667024-39667150	NONHSAT027698
6	lnc-C12orf40-3	chr12:39721864-39722713	NONHSAT027702
7	lnc-ABCD2-5	chr12:39750402-39750697	NONHSAT027704
8	lnc-C12orf40-3	chr12:39721472-39721634	NONHSAT027700
9	lnc-C12orf40-3	chr12:39721452-39721634	NONHSAT027702
10	lnc-C12orf40-4	chr12:39667587-39667691	NONHSAT027698
11	lnc-C12orf40-3	chr12:39720075-39720147	NONHSAT027700
12	lnc-C12orf40-3	chr12:39721864-39722713	NONHSAT027700

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	KIF21A	hsa-miR-186-5p	chr12:39688170-39688191
2	KIF21A	hsa-miR-186-5p	chr12:39687380-39687401

Variant related genes	Relation type
KIF21A	TF binding region
KIF21A	CpG island
ENSG00000257718	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 4926 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:4926 , 50 per page) page: 1 2 3 4 5 6 7 ... 99

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191289111	chr12:39633082-39633083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572465843	chr12:39633086-39633087	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145856751	chr12:39633113-39633114	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76504904	chr12:39633127-39633128	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116883834	chr12:39633149-39633150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs543652298	chr12:39633183-39633184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs200196769	chr12:39633192-39633193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs184261663	chr12:39633233-39633234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540932515	chr12:39633248-39633249	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541782190	chr12:39633280-39633281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11448744	chr12:39633299-39633300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397817440	chr12:39633300-39633301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559909404	chr12:39633301-39633302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554861070	chr12:39633334-39633335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116702323	chr12:39633418-39633419	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs138413935	chr12:39633419-39633420	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570601463	chr12:39633425-39633426	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374479950	chr12:39633445-39633446	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs531517358	chr12:39633528-39633529	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4768676	chr12:39633558-39633559	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs12099480	chr12:39633594-39633595	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535761631	chr12:39633600-39633601	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs75888021	chr12:39633608-39633609	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7350598	chr12:39633609-39633610	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs539871930	chr12:39633621-39633622	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs186995891	chr12:39633625-39633626	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs10506137	chr12:39633641-39633642	Enhancers Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs577601447	chr12:39633662-39633663	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs369368112	chr12:39633665-39633666	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs570322997	chr12:39633670-39633671	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs193194053	chr12:39633671-39633672	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs555563838	chr12:39633683-39633684	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs573961468	chr12:39633695-39633696	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs541362601	chr12:39633702-39633703	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs560039697	chr12:39633711-39633712	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575303813	chr12:39633715-39633716	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs545818264	chr12:39633752-39633753	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs148320163	chr12:39633778-39633779	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs564145972	chr12:39633813-39633814	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs531453672	chr12:39633818-39633819	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549965834	chr12:39633886-39633887	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs561871645	chr12:39633928-39633929	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs529142094	chr12:39633951-39633952	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs141442201	chr12:39633962-39633963	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566008957	chr12:39633963-39633964	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs185153142	chr12:39633979-39633980	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs551780985	chr12:39633991-39633992	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs569787321	chr12:39634036-39634037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537165673	chr12:39634040-39634041	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs150822893	chr12:39634051-39634052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	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	18451855	CNVD

Chromatin state (count:1548 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39629600-39635000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:39630000-39634000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:39631400-39633200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:39632600-39633400	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr12:39632600-39633800	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr12:39632600-39634200	Enhancers	Fetal Intestine Large	intestine
7	chr12:39632600-39634400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr12:39632600-39634800	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:39632600-39635000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:39632800-39633200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:39632800-39633400	Enhancers	Brain Substantia Nigra	brain
12	chr12:39632800-39634200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:39633200-39634000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:39633200-39634200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:39633400-39633800	Enhancers	HepG2	liver
16	chr12:39633400-39634000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr12:39633400-39634400	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr12:39633400-39634600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr12:39633400-39634800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:39633800-39634600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:39633800-39634800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr12:39633800-39635000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:39634000-39634600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:39634000-39634800	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr12:39634200-39634600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:39634200-39635400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:39634400-39634800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr12:39634800-39635000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:39635400-39635600	Enhancers	Fetal Intestine Large	intestine
30	chr12:39646200-39646800	Enhancers	Liver	Liver
31	chr12:39663400-39663800	Enhancers	Hela-S3	cervix
32	chr12:39663800-39667200	Weak transcription	Hela-S3	cervix
33	chr12:39665800-39666200	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr12:39666600-39667000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr12:39666800-39667400	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr12:39667200-39667600	Enhancers	Hela-S3	cervix
37	chr12:39669400-39670000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:39674800-39690200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:39681200-39682000	Enhancers	Hela-S3	cervix
40	chr12:39681400-39681600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:39681400-39682200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr12:39681600-39687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:39682000-39699200	Weak transcription	Hela-S3	cervix
44	chr12:39682400-39688800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr12:39683200-39696000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr12:39683400-39685600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:39683400-39686000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:39684400-39695400	Weak transcription	A549	lung
49	chr12:39684600-39688000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:39684600-39688200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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