Variant report

Variant	esv3397588
Chromosome Location	chr12:49413110-49415658
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:348)
CpG islands
(count:61)
Chromatin interactive
region (count:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:6)

(count:348 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49413860-49414027	K562	blood:	n/a	n/a
2	ARID3A	chr12:49413922-49414016	HepG2	liver:	n/a	n/a
3	BCL3	chr12:49411769-49413233	A549	lung:	n/a	n/a
4	BCL3	chr12:49411561-49413194	A549	lung:	n/a	n/a
5	BCLAF1	chr12:49412156-49413135	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:49413908-49413942	K562	blood:	n/a	n/a
7	BHLHE40	chr12:49413411-49413455	K562	blood:	n/a	n/a
8	CBX3	chr12:49413722-49414092	K562	blood:	n/a	n/a
9	CBX3	chr12:49412242-49413111	K562	blood:	n/a	n/a
10	CEBPB	chr12:49413165-49413214	K562	blood:	n/a	n/a
11	CEBPB	chr12:49412389-49413130	GM12878	blood:	n/a	n/a
12	CEBPB	chr12:49412254-49413149	ECC-1	luminal epithelium:	n/a	n/a
13	CREB1	chr12:49411919-49413154	GM12878	blood:	n/a	n/a
14	CREB1	chr12:49411906-49413153	HepG2	liver:	n/a	n/a
15	CTCF	chr12:49413860-49414010	GM12872	blood:	n/a	n/a
16	CTCF	chr12:49413662-49414119	K562	blood:	n/a	n/a
17	CTCF	chr12:49413860-49414010	HMF	breast:	n/a	n/a
18	CTCF	chr12:49413843-49414062	GM19238	blood:	n/a	n/a
19	CTCF	chr12:49413860-49414010	HCM	heart:	n/a	n/a
20	CTCF	chr12:49413840-49413990	HRE	kidney:	n/a	n/a
21	CTCF	chr12:49413860-49414010	BE2_C	brain:	n/a	n/a
22	CTCF	chr12:49413873-49414023	ProgFib	skin:	n/a	n/a
23	CTCF	chr12:49413854-49414037	MCF-7	breast:	n/a	n/a
24	CTCF	chr12:49413900-49414050	HepG2	liver:	n/a	n/a
25	CTCF	chr12:49413869-49414029	NHEK	skin:	n/a	n/a
26	CTCF	chr12:49413900-49414050	HFF	foreskin:	n/a	n/a
27	CTCF	chr12:49413860-49414010	AG09309	skin:	n/a	n/a
28	CTCF	chr12:49413825-49414051	A549	lung:	n/a	n/a
29	CTCF	chr12:49413900-49414050	GM06990	blood:	n/a	n/a
30	CTCF	chr12:49413900-49414050	GM12873	blood:	n/a	n/a
31	CTCF	chr12:49413755-49414050	A549	lung:	n/a	n/a
32	CTCF	chr12:49413841-49414056	GM19240	blood:	n/a	n/a
33	CTCF	chr12:49413837-49414068	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr12:49413860-49414010	GM12865	blood:	n/a	n/a
35	CTCF	chr12:49413850-49414054	HUVEC	blood vessel:	n/a	n/a
36	CTCF	chr12:49413880-49414030	GM12865	blood:	n/a	n/a
37	CTCF	chr12:49413880-49414030	AG10803	skin:	n/a	n/a
38	CTCF	chr12:49413880-49414030	RPTEC	kidney:	n/a	n/a
39	CTCF	chr12:49413866-49414053	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr12:49413864-49414041	A549	lung:	n/a	n/a
41	CTCF	chr12:49413772-49414139	GM12878	blood:	n/a	n/a
42	CTCF	chr12:49413875-49414021	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:49413856-49414066	Medullo	brain:	n/a	n/a
44	CTCF	chr12:49413840-49413990	GM12868	blood:	n/a	n/a
45	CTCF	chr12:49413859-49414061	GM12878	blood:	n/a	n/a
46	CTCF	chr12:49413840-49413990	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr12:49413900-49414050	SK-N-SH_RA	brain:	n/a	n/a
48	CTCF	chr12:49413884-49414036	GM10266	blood:	n/a	n/a
49	CTCF	chr12:49413860-49414010	HRE	kidney:	n/a	n/a
50	CTCF	chr12:49413561-49414191	A549	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49413435-49413485	CMK	blood:	n/a
2	chr12:49413435-49413485	HUVEC	blood vessel:	n/a
3	chr12:49413435-49413485	A549	lung:	n/a
4	chr12:49413435-49413485	AG04450	lung:	fetal
5	chr12:49413435-49413485	HNPCEpiC	eye:	n/a
6	chr12:49413435-49413485	GM12878	blood:	n/a
7	chr12:49413435-49413485	SK-N-SH_RA	brain:	n/a
8	chr12:49413435-49413485	HepG2	liver:	n/a
9	chr12:49413435-49413485	PFSK-1	brain:	n/a
10	chr12:49413435-49413485	LNCaP	prostate:	n/a
11	chr12:49413435-49413485	MCF10A-Er-Src	breast:	n/a
12	chr12:49413435-49413485	NH-A	brain:	n/a
13	chr12:49413435-49413485	RPTEC	kidney:	n/a
14	chr12:49413435-49413485	PANC-1	pancreas:	n/a
15	chr12:49413435-49413485	Caco-2	colon:	n/a
16	chr12:49413435-49413485	GM19239	blood:	n/a
17	chr12:49413435-49413485	SAEC	small airway:	n/a
18	chr12:49413435-49413485	NHDF-neo	bronchial:	n/a
19	chr12:49413435-49413485	AG04449	skin:	fetal
20	chr12:49413435-49413485	U87	brain:	n/a
21	chr12:49413435-49413485	IMR90	lung:	fetal
22	chr12:49413435-49413485	BJ	skin:	n/a
23	chr12:49413435-49413485	BE2_C	brain:	n/a
24	chr12:49413435-49413485	HRE	kidney:	n/a
25	chr12:49413435-49413485	ProgFib	skin:	n/a
26	chr12:49413435-49413485	Jurkat	blood:	n/a
27	chr12:49413435-49413485	GM06990	blood:	n/a
28	chr12:49413435-49413485	GM12892	blood:	n/a
29	chr12:49413435-49413485	AG09309	skin:	n/a
30	chr12:49413435-49413485	SK-N-SH	brain:	n/a
31	chr12:49413435-49413485	NT2-D1	testis:	n/a
32	chr12:49413435-49413485	NHBE	bronchial:	n/a
33	chr12:49413435-49413485	Hela-S3	cervix:	n/a
34	chr12:49413435-49413485	HCT-116	colon:	n/a
35	chr12:49413435-49413485	HCF	heart:	n/a
36	chr12:49413435-49413485	HL-60	blood:	n/a
37	chr12:49413435-49413485	MCF-7	breast:	n/a
38	chr12:49413435-49413485	SKMC	muscle:	n/a
39	chr12:49413435-49413485	Hepatocyte	liver:	n/a
40	chr12:49413435-49413485	T-47D	breast:	n/a
41	chr12:49413435-49413485	HAEpiC	amniotic membrane:	n/a
42	chr12:49413435-49413485	HCPEpiC	choroid plexus:	n/a
43	chr12:49413435-49413485	HEK293	kidney:	embryo
44	chr12:49413435-49413485	H1-hESC	embryonic stem cell:	embryo
45	chr12:49413435-49413485	GM12891	blood:	n/a
46	chr12:49413435-49413485	HRPEpiC	eye:	n/a
47	chr12:49413435-49413485	HIPEpiC	eye:	n/a
48	chr12:49413435-49413485	HMEC	breast:	n/a
49	chr12:49413435-49413485	SK-N-MC	brain:	n/a
50	chr12:49413435-49413485	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr12:49410741..49414968-chr12:49656213..49660641,6	K562	blood:
2	chr12:49410579..49413468-chr12:49666098..49668038,2	K562	blood:
3	chr12:49411035..49414032-chr12:49431081..49434275,3	K562	blood:
4	chr12:49412487..49413124-chr3:195808419..195809056,2	Hela-S3	cervix:
5	chr12:49244558..49246896-chr12:49411138..49413434,2	MCF-7	breast:
6	chr12:49368203..49373775-chr12:49410781..49415457,6	K562	blood:
7	chr12:49411020..49415552-chr12:49523211..49527183,13	K562	blood:
8	chr12:49412361..49413149-chr5:79551650..79552467,2	Hela-S3	cervix:
9	chr12:49369680..49374710-chr12:49411684..49416052,5	K562	blood:
10	chr12:49409906..49413174-chr12:49495482..49498237,3	K562	blood:
11	chr12:49410141..49415550-chr12:49657481..49661686,9	K562	blood:
12	chr12:49412128..49415221-chr12:49522907..49525212,5	MCF-7	breast:
13	chr12:49408415..49414757-chr12:49522619..49525582,9	MCF-7	breast:
14	chr12:49361132..49362678-chr12:49413782..49415312,2	MCF-7	breast:
15	chr12:49349516..49351260-chr12:49410887..49413470,2	K562	blood:
16	chr12:49109260..49113049-chr12:49411417..49414170,4	K562	blood:
17	chr12:49412487..49414498-chr12:49429302..49431280,2	MCF-7	breast:
18	chr12:49412434..49414037-chr12:49481965..49485048,3	K562	blood:
19	chr12:49415301..49416854-chr12:49436877..49438617,2	K562	blood:
20	chr12:49407466..49416688-chr12:49451532..49456163,12	MCF-7	breast:
21	chr12:49409658..49414587-chr12:49499656..49504173,4	K562	blood:
22	chr12:49412176..49413113-chr15:75746855..75747416,2	Hela-S3	cervix:
23	chr12:49408338..49419708-chr12:49447252..49460551,38	K562	blood:
24	chr12:49415538..49418137-chr12:49434356..49437090,4	MCF-7	breast:
25	chr12:49349202..49351999-chr12:49410599..49414055,4	MCF-7	breast:
26	chr12:49410463..49414527-chr12:49462417..49465664,5	K562	blood:
27	chr12:49411250..49414905-chr12:49447359..49450802,6	MCF-7	breast:
28	chr12:49348804..49352502-chr12:49411258..49414497,4	MCF-7	breast:
29	chr12:49409714..49416851-chr12:49447402..49455499,24	MCF-7	breast:
30	chr12:49390223..49391069-chr12:49413217..49414800,4	K562	blood:
31	chr12:49412238..49414069-chr12:49657738..49659294,2	MCF-7	breast:
32	chr12:49207853..49210267-chr12:49412242..49414195,2	K562	blood:
33	chr12:49388402..49390811-chr12:49410964..49413711,2	MCF-7	breast:
34	chr12:49209305..49214344-chr12:49410836..49414443,6	MCF-7	breast:
35	chr12:49410733..49415536-chr12:49523564..49526910,8	K562	blood:
36	chr12:49411929..49413687-chr17:57923911..57925440,2	MCF-7	breast:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	MLL2	hsa-miR-186-5p	chr12:49414192-49414213
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-30c-5p	chr12:49413119-49413142

Variant related genes	Relation type
PRKAG1	TF binding region
PRKAG1	CpG island
ENSG00000167548	chromatin interactions
ENSG00000258017	chromatin interactions
ENSG00000072274	chromatin interactions
ENSG00000134287	chromatin interactions
ENSG00000164300	chromatin interactions
ENSG00000167553	chromatin interactions
ENSG00000258101	chromatin interactions
ENSG00000169375	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000123416	chromatin interactions
ENSG00000272822	chromatin interactions
ENSG00000139636	chromatin interactions
ENSG00000125084	chromatin interactions
ENSG00000200309	chromatin interactions
ENSG00000167535	chromatin interactions
ENSG00000257346	chromatin interactions
ENSG00000200303	chromatin interactions
ENSG00000201524	chromatin interactions
ENSG00000258232	chromatin interactions
ENSG00000167550	chromatin interactions
ENSG00000174243	chromatin interactions
ENSG00000258283	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553627354	chr12:49413176-49413177	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
2	rs577833675	chr12:49413199-49413200	Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
3	rs575152122	chr12:49413207-49413208	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
4	rs537330938	chr12:49413209-49413210	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
5	rs556912643	chr12:49413321-49413322	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
6	rs77945935	chr12:49413355-49413356	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
7	rs542792078	chr12:49413388-49413389	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
8	rs559450337	chr12:49413417-49413418	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
9	rs7975791	chr12:49413486-49413487	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs190063096	chr12:49413519-49413520	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs149655050	chr12:49413536-49413537	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs531141199	chr12:49413587-49413588	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs34813816	chr12:49413675-49413676	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
14	rs12424597	chr12:49413719-49413720	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
15	rs182918402	chr12:49413815-49413816	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
16	rs373700153	chr12:49413817-49413818	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs561367993	chr12:49413822-49413823	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
18	rs530183421	chr12:49413840-49413841	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs35841807	chr12:49413843-49413844	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
20	rs35258682	chr12:49413916-49413917	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
21	rs58586363	chr12:49413927-49413928	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
22	rs546701118	chr12:49413959-49413960	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
23	rs566595518	chr12:49414013-49414014	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
24	rs12315734	chr12:49414023-49414024	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs113610343	chr12:49414119-49414120	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
26	rs552183789	chr12:49414131-49414132	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
27	rs376702078	chr12:49414254-49414255	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs371610071	chr12:49414363-49414364	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs569222147	chr12:49414398-49414399	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs527595503	chr12:49414456-49414457	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs566024882	chr12:49414519-49414520	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs563489548	chr12:49414522-49414523	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs376254397	chr12:49414551-49414552	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
34	rs552467500	chr12:49414571-49414572	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs188479434	chr12:49414719-49414720	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs192035980	chr12:49414748-49414749	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs553126082	chr12:49414806-49414807	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs374518108	chr12:49414826-49414827	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs530983777	chr12:49414899-49414900	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs573000768	chr12:49414911-49414912	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs545108166	chr12:49414958-49414959	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs545974412	chr12:49414975-49414976	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs558306515	chr12:49415014-49415015	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs575171340	chr12:49415057-49415058	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs554847574	chr12:49415067-49415068	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs35891250	chr12:49415087-49415088	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs201717312	chr12:49415099-49415100	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs564266476	chr12:49415107-49415108	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs561589058	chr12:49415118-49415119	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs530249396	chr12:49415135-49415136	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	9 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:467 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49411200-49413200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:49411400-49413200	Active TSS	Fetal Muscle Trunk	muscle
3	chr12:49411400-49413200	Active TSS	Psoas Muscle	Psoas
4	chr12:49411400-49413200	Active TSS	NHLF	lung
5	chr12:49411400-49413600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr12:49411600-49413200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:49411600-49413200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:49411600-49413200	Active TSS	Left Ventricle	heart
10	chr12:49411800-49413200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:49411800-49413200	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr12:49411800-49413200	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr12:49411800-49413200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:49411800-49413200	Active TSS	Fetal Intestine Small	intestine
15	chr12:49411800-49413200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr12:49411800-49413200	Active TSS	Ovary	ovary
17	chr12:49411800-49413200	Active TSS	A549	lung
18	chr12:49411800-49413200	Active TSS	HSMMtube	muscle
19	chr12:49411800-49413200	Active TSS	NHDF-Ad	bronchial
20	chr12:49411800-49413400	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr12:49411800-49413400	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr12:49412000-49413200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr12:49412000-49413200	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr12:49412000-49413200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:49412000-49413200	Active TSS	Brain Angular Gyrus	brain
26	chr12:49412000-49413200	Active TSS	Brain Anterior Caudate	brain
27	chr12:49412000-49413200	Active TSS	Brain Cingulate Gyrus	brain
28	chr12:49412000-49413200	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr12:49412000-49413200	Active TSS	Fetal Intestine Large	intestine
30	chr12:49412000-49413200	Active TSS	Fetal Stomach	stomach
31	chr12:49412000-49413200	Active TSS	Right Ventricle	heart
32	chr12:49412000-49413200	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr12:49412000-49413200	Active TSS	GM12878-XiMat	blood
34	chr12:49412000-49413200	Active TSS	HMEC	breast
35	chr12:49412000-49413200	Active TSS	Monocytes-CD14+_RO01746	blood
36	chr12:49412000-49413400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr12:49412000-49413400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr12:49412000-49413400	Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr12:49412000-49413400	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr12:49412000-49413400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:49412000-49413400	Active TSS	Fetal Kidney	kidney
42	chr12:49412000-49413400	Active TSS	Thymus	Thymus
43	chr12:49412000-49413600	Active TSS	Duodenum Mucosa	Duodenum
44	chr12:49412200-49413200	Active TSS	Primary B cells from cord blood	blood
45	chr12:49412200-49413200	Active TSS	Primary B cells from peripheral blood	blood
46	chr12:49412200-49413200	Active TSS	Liver	Liver
47	chr12:49412200-49413200	Active TSS	Fetal Brain Female	brain
48	chr12:49412200-49413200	Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:49412200-49413400	Active TSS	Adipose Nuclei	Adipose
50	chr12:49412200-49413600	Active TSS	Brain Inferior Temporal Lobe	brain

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