Variant report

Variant	esv3387384
Chromosome Location	chr12:49412035-49416433
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1082)
CpG islands
(count:428)
Chromatin interactive
region (count:51)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:1082 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49412459-49412856	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:49413860-49414027	K562	blood:	n/a	n/a
3	ARID3A	chr12:49413922-49414016	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:49412480-49412988	K562	blood:	n/a	n/a
5	ATF1	chr12:49412366-49412992	K562	blood:	n/a	n/a
6	ATF2	chr12:49412237-49412994	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr12:49412357-49412960	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr12:49411837-49413056	GM12878	blood:	n/a	n/a
9	ATF2	chr12:49412255-49413060	GM12878	blood:	n/a	n/a
10	ATF3	chr12:49412267-49412901	A549	lung:	n/a	n/a
11	ATF3	chr12:49412376-49412903	A549	lung:	n/a	n/a
12	ATF3	chr12:49412399-49412880	K562	blood:	n/a	n/a
13	ATF3	chr12:49412313-49412723	K562	blood:	n/a	n/a
14	BCL3	chr12:49412044-49413053	GM12878	blood:	n/a	n/a
15	BCL3	chr12:49411769-49413233	A549	lung:	n/a	n/a
16	BCL3	chr12:49411713-49412898	K562	blood:	n/a	n/a
17	BCL3	chr12:49411561-49413194	A549	lung:	n/a	n/a
18	BCLAF1	chr12:49412156-49413135	GM12878	blood:	n/a	n/a
19	BCLAF1	chr12:49412077-49412959	GM12878	blood:	n/a	n/a
20	BCLAF1	chr12:49412239-49412933	K562	blood:	n/a	n/a
21	BHLHE40	chr12:49413908-49413942	K562	blood:	n/a	n/a
22	BHLHE40	chr12:49413411-49413455	K562	blood:	n/a	n/a
23	BHLHE40	chr12:49412305-49412971	GM12878	blood:	n/a	n/a
24	BHLHE40	chr12:49411879-49413015	K562	blood:	n/a	n/a
25	BRCA1	chr12:49412246-49412996	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr12:49412451-49412946	H1-hESC	embryonic stem cell:	n/a	n/a
27	BRCA1	chr12:49412192-49412754	HepG2	liver:	n/a	n/a
28	CBX3	chr12:49413722-49414092	K562	blood:	n/a	n/a
29	CBX3	chr12:49412242-49413111	K562	blood:	n/a	n/a
30	CCNT2	chr12:49412136-49412957	K562	blood:	n/a	n/a
31	CEBPB	chr12:49411634-49412703	IMR90	lung:	n/a	n/a
32	CEBPB	chr12:49412350-49412726	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr12:49412389-49413130	GM12878	blood:	n/a	n/a
34	CEBPB	chr12:49412397-49412595	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:49411883-49412675	A549	lung:	n/a	n/a
36	CEBPB	chr12:49412376-49412648	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:49412368-49412705	K562	blood:	n/a	n/a
38	CEBPB	chr12:49413165-49413214	K562	blood:	n/a	n/a
39	CEBPB	chr12:49412254-49413149	ECC-1	luminal epithelium:	n/a	n/a
40	CEBPB	chr12:49411622-49412847	Hela-S3	cervix:	n/a	n/a
41	CEBPD	chr12:49412180-49413018	K562	blood:	n/a	n/a
42	CEBPD	chr12:49412263-49412954	K562	blood:	n/a	n/a
43	CEBPD	chr12:49412347-49412840	HepG2	liver:	n/a	n/a
44	CEBPD	chr12:49412265-49412903	HepG2	liver:	n/a	n/a
45	CHD1	chr12:49412032-49413075	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD1	chr12:49412001-49413013	GM12878	blood:	n/a	n/a
47	CHD2	chr12:49412070-49412874	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr12:49412462-49412762	HepG2	liver:	n/a	n/a
49	CHD2	chr12:49412021-49412893	GM12878	blood:	n/a	n/a
50	CHD2	chr12:49412188-49412857	Hela-S3	cervix:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49412140-49412190	HCT-116	colon:	n/a
2	chr12:49412140-49412190	HCT-116	colon:	n/a
3	chr12:49412926-49412976	BE2_C	brain:	n/a
4	chr12:49412581-49412631	GM06990	blood:	n/a
5	chr12:49413435-49413485	H1-hESC	embryonic stem cell:	embryo
6	chr12:49413435-49413485	MCF-7	breast:	n/a
7	chr12:49412926-49412976	HL-60	blood:	n/a
8	chr12:49413435-49413485	U87	brain:	n/a
9	chr12:49412581-49412631	PrEC	prostate:	n/a
10	chr12:49412140-49412190	MCF10A-Er-Src	breast:	n/a
11	chr12:49412581-49412631	GM12892	blood:	n/a
12	chr12:49412581-49412631	AoSMC	blood vessel:	n/a
13	chr12:49413435-49413485	AG10803	skin:	n/a
14	chr12:49412140-49412190	Caco-2	colon:	n/a
15	chr12:49412581-49412631	HCM	heart:	n/a
16	chr12:49412603-49412653	NT2-D1	testis:	n/a
17	chr12:49413435-49413485	CMK	blood:	n/a
18	chr12:49412581-49412631	HPAEpiC	pulmonary alveolar:	n/a
19	chr12:49412872-49412922	AG04449	skin:	fetal
20	chr12:49412872-49412922	SAEC	small airway:	n/a
21	chr12:49412581-49412631	H1-hESC	embryonic stem cell:	embryo
22	chr12:49413435-49413485	HEK293	kidney:	embryo
23	chr12:49412926-49412976	HCT-116	colon:	n/a
24	chr12:49412603-49412653	ProgFib	skin:	n/a
25	chr12:49412422-49412472	RPTEC	kidney:	n/a
26	chr12:49412926-49412976	Caco-2	colon:	n/a
27	chr12:49412422-49412472	Caco-2	colon:	n/a
28	chr12:49412422-49412472	GM06990	blood:	n/a
29	chr12:49412581-49412631	AG10803	skin:	n/a
30	chr12:49412140-49412190	HRCEpiC	kidney:	n/a
31	chr12:49412140-49412190	GM12878	blood:	n/a
32	chr12:49412872-49412922	AG04450	lung:	fetal
33	chr12:49412926-49412976	SK-N-SH_RA	brain:	n/a
34	chr12:49412140-49412190	NT2-D1	testis:	n/a
35	chr12:49412140-49412190	PFSK-1	brain:	n/a
36	chr12:49412926-49412976	HMEC	breast:	n/a
37	chr12:49412926-49412976	AG09309	skin:	n/a
38	chr12:49412872-49412922	Hepatocyte	liver:	n/a
39	chr12:49412603-49412653	AG10803	skin:	n/a
40	chr12:49412872-49412922	PrEC	prostate:	n/a
41	chr12:49412872-49412922	HCPEpiC	choroid plexus:	n/a
42	chr12:49412422-49412472	ECC-1	luminal epithelium:	n/a
43	chr12:49413435-49413485	SK-N-SH	brain:	n/a
44	chr12:49412422-49412472	HCPEpiC	choroid plexus:	n/a
45	chr12:49412872-49412922	GM06990	blood:	n/a
46	chr12:49412140-49412190	HUVEC	blood vessel:	n/a
47	chr12:49412603-49412653	HepG2	liver:	n/a
48	chr12:49412581-49412631	SK-N-SH	brain:	n/a
49	chr12:49413435-49413485	BE2_C	brain:	n/a
50	chr12:49412603-49412653	GM12878	blood:	n/a

(count:51 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:49410579..49413468-chr12:49666098..49668038,2	K562	blood:
2	chr12:49411035..49414032-chr12:49431081..49434275,3	K562	blood:
3	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
4	chr12:49412238..49414069-chr12:49657738..49659294,2	MCF-7	breast:
5	chr12:49415538..49418137-chr12:49434356..49437090,4	MCF-7	breast:
6	chr12:49395494..49398134-chr12:49410084..49412345,2	MCF-7	breast:
7	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
8	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:
9	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
10	chr1:28832099..28833043-chr12:49412456..49412982,2	Hela-S3	cervix:
11	chr12:49244558..49246896-chr12:49411138..49413434,2	MCF-7	breast:
12	chr12:49412124..49413026-chr5:32174262..32174852,2	Hela-S3	cervix:
13	chr12:49412434..49414037-chr12:49481965..49485048,3	K562	blood:
14	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
15	chr12:49412316..49413094-chr19:3606438..3606974,2	Hela-S3	cervix:
16	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
17	chr12:49412091..49412681-chr16:75498282..75498826,2	Hela-S3	cervix:
18	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
19	chr12:49412361..49413149-chr5:79551650..79552467,2	Hela-S3	cervix:
20	chr12:49412487..49414498-chr12:49429302..49431280,2	MCF-7	breast:
21	chr12:49412260..49412838-chr12:93835928..93836641,2	Hela-S3	cervix:
22	chr12:49411707..49412634-chr20:30193037..30193936,2	Hela-S3	cervix:
23	chr12:49412095..49412628-chr16:69373590..69374336,2	Hela-S3	cervix:
24	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
25	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
26	chr12:49411929..49413687-chr17:57923911..57925440,2	MCF-7	breast:
27	chr12:49415886..49418074-chr12:49523442..49526347,2	K562	blood:
28	chr12:49349745..49351260-chr12:49410630..49412387,2	K562	blood:
29	chr12:49412487..49413124-chr3:195808419..195809056,2	Hela-S3	cervix:
30	chr12:49415886..49418242-chr12:49524847..49526819,2	K562	blood:
31	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
32	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
33	chr12:49410223..49412627-chr12:49436290..49440145,3	K562	blood:
34	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
35	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
36	chr12:49415301..49416854-chr12:49436877..49438617,2	K562	blood:
37	chr12:49412133..49412956-chr20:47894836..47895476,2	Hela-S3	cervix:
38	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
39	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:
40	chr12:49207853..49210267-chr12:49412242..49414195,2	K562	blood:
41	chr12:49409906..49413174-chr12:49495482..49498237,3	K562	blood:
42	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
43	chr1:153642654..153643615-chr12:49411973..49412608,2	Hela-S3	cervix:
44	chr12:49390223..49391069-chr12:49413217..49414800,4	K562	blood:
45	chr12:49410741..49414968-chr12:49656213..49660641,6	K562	blood:
46	chr12:49388402..49390811-chr12:49410964..49413711,2	MCF-7	breast:
47	chr12:49349202..49351999-chr12:49410599..49414055,4	MCF-7	breast:
48	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
49	chr1:245027593..245028235-chr12:49411958..49412623,2	Hela-S3	cervix:
50	chr12:49412176..49413113-chr15:75746855..75747416,2	Hela-S3	cervix:

No data

(count:6 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	MLL2	hsa-miR-30c-5p	chr12:49413119-49413142
2	MLL2	hsa-miR-30c-5p	chr12:49413124-49413118
3	MLL2	hsa-miR-15b-5p	chr12:49414050-49414073
4	MLL2	hsa-miR-15b-5p	chr12:49414430-49414424
5	MLL2	hsa-miR-34a-5p	chr12:49414800-49414794
6	MLL2	hsa-miR-186-5p	chr12:49414192-49414213

Variant related genes	Relation type
PRKAG1	TF binding region
PRKAG1	CpG island
ENSG00000242125	chromatin interactions
ENSG00000272086	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000006638	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000153187	chromatin interactions
ENSG00000258283	chromatin interactions
ENSG00000181929	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000167548	chromatin interactions
ENSG00000132603	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000113384	chromatin interactions
ENSG00000143621	chromatin interactions
ENSG00000167550	chromatin interactions
ENSG00000177889	chromatin interactions
ENSG00000125968	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000125084	chromatin interactions
ENSG00000273175	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000200303	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000258232	chromatin interactions
ENSG00000261717	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000167535	chromatin interactions
ENSG00000164300	chromatin interactions
ENSG00000166822	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563198517	chr12:49412057-49412058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
2	rs528899963	chr12:49412090-49412091	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
3	rs182268023	chr12:49412094-49412095	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
4	rs565659040	chr12:49412100-49412101	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
5	rs528828960	chr12:49412316-49412317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
6	rs61942217	chr12:49412326-49412327	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
7	rs571873600	chr12:49412343-49412344	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
8	rs537207130	chr12:49412351-49412352	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
9	rs77879432	chr12:49412370-49412371	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
10	rs567624043	chr12:49412387-49412388	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
11	rs536727157	chr12:49412414-49412415	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
12	rs191152062	chr12:49412416-49412417	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
13	rs539157024	chr12:49412460-49412461	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
14	rs373305644	chr12:49412461-49412462	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
15	rs114080667	chr12:49412462-49412463	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
16	rs368767405	chr12:49412463-49412464	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
17	rs372783464	chr12:49412468-49412469	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
18	rs374002947	chr12:49412474-49412475	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
19	rs200850251	chr12:49412475-49412476	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
20	rs201841565	chr12:49412479-49412480	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
21	rs199582947	chr12:49412486-49412487	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
22	rs200865193	chr12:49412492-49412493	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
23	rs201607367	chr12:49412495-49412496	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
24	rs199953330	chr12:49412508-49412509	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
25	rs371103427	chr12:49412527-49412528	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
26	rs180760469	chr12:49412529-49412530	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
27	rs370096933	chr12:49412531-49412532	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
28	rs200403763	chr12:49412532-49412533	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
29	rs201550030	chr12:49412539-49412540	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
30	rs577779627	chr12:49412544-49412545	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
31	rs200059936	chr12:49412550-49412551	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
32	rs374351767	chr12:49412551-49412552	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
33	rs375674607	chr12:49412555-49412556	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
34	rs201234563	chr12:49412566-49412567	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
35	rs202093894	chr12:49412576-49412577	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	38 gene(s)	Overlapped CNVs	n/a
36	rs200331588	chr12:49412614-49412615	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
37	rs376441054	chr12:49412616-49412617	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	37 gene(s)	Overlapped CNVs	n/a
38	rs201121069	chr12:49412630-49412631	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
39	rs202180842	chr12:49412644-49412645	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	33 gene(s)	Overlapped CNVs	n/a
40	rs2293446	chr12:49412709-49412710	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs542729206	chr12:49412711-49412712	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
42	rs2293447	chr12:49412715-49412716	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs528090679	chr12:49412720-49412721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
44	rs552111682	chr12:49412759-49412760	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
45	rs3177024	chr12:49412787-49412788	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
46	rs565543969	chr12:49412794-49412795	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
47	rs531155841	chr12:49412833-49412834	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	31 gene(s)	Overlapped CNVs	n/a
48	rs541674205	chr12:49412839-49412840	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
49	rs550920375	chr12:49412873-49412874	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a
50	rs185652670	chr12:49412918-49412919	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	30 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Cancer	17160897	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:600 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49411200-49412400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr12:49411200-49413200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:49411400-49412200	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr12:49411400-49412200	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr12:49411400-49412200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr12:49411400-49412200	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr12:49411400-49412200	Flanking Active TSS	Fetal Brain Female	brain
8	chr12:49411400-49412200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:49411400-49412200	Active TSS	Right Atrium	heart
10	chr12:49411400-49412400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:49411400-49412400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr12:49411400-49412400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:49411400-49412400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:49411400-49412400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr12:49411400-49412400	Flanking Active TSS	Stomach Smooth Muscle	stomach
16	chr12:49411400-49412600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:49411400-49412800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:49411400-49413200	Active TSS	Fetal Muscle Trunk	muscle
19	chr12:49411400-49413200	Active TSS	Psoas Muscle	Psoas
20	chr12:49411400-49413200	Active TSS	NHLF	lung
21	chr12:49411400-49413600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:49411600-49412200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
23	chr12:49411600-49412200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr12:49411600-49412200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr12:49411600-49412200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:49411600-49412200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:49411600-49412200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr12:49411600-49412200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:49411600-49412200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:49411600-49412200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
31	chr12:49411600-49412200	Flanking Active TSS	Liver	Liver
32	chr12:49411600-49412200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
33	chr12:49411600-49412200	Flanking Active TSS	Brain Substantia Nigra	brain
34	chr12:49411600-49412200	Flanking Active TSS	Fetal Thymus	thymus
35	chr12:49411600-49412200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr12:49411600-49413000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:49411600-49413000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:49411600-49413000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr12:49411600-49413000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:49411600-49413000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:49411600-49413000	Active TSS	Aorta	Aorta
42	chr12:49411600-49413000	Active TSS	Esophagus	oesophagus
43	chr12:49411600-49413200	Active TSS	H9 Cell Line	embryonic stem cell
44	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr12:49411600-49413200	Active TSS	Left Ventricle	heart
47	chr12:49411800-49412200	Flanking Active TSS	Primary B cells from peripheral blood	blood
48	chr12:49411800-49412200	Flanking Active TSS	Colonic Mucosa	Colon
49	chr12:49411800-49412600	Active TSS	Gastric	stomach
50	chr12:49411800-49412800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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