Variant report

Variant	nsv518315
Chromosome Location	chr12:48149752-48152995
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:574)
CpG islands
(count:733)
Chromatin interactive
region (count:18)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:574 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:48149153-48149953	GM12878	blood:	n/a	n/a
2	ATF3	chr12:48152782-48153437	K562	blood:	n/a	chr12:48153002-48153016
3	ATF3	chr12:48152901-48153380	K562	blood:	n/a	chr12:48153002-48153016
4	BACH1	chr12:48152876-48152988	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr12:48149433-48149761	GM12878	blood:	n/a	n/a
6	BHLHE40	chr12:48152818-48153112	HepG2	liver:	n/a	n/a
7	BHLHE40	chr12:48152608-48153405	K562	blood:	n/a	chr12:48153097-48153113
8	BRCA1	chr12:48152995-48153001	H1-hESC	embryonic stem cell:	n/a	n/a
9	BRCA1	chr12:48152871-48153520	Hela-S3	cervix:	n/a	n/a
10	CBX3	chr12:48152779-48153512	K562	blood:	n/a	n/a
11	CCNT2	chr12:48152524-48153452	K562	blood:	n/a	chr12:48152736-48152745
12	CEBPB	chr12:48152401-48153464	ECC-1	luminal epithelium:	n/a	n/a
13	CEBPB	chr12:48152498-48153132	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:48152931-48153051	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD1	chr12:48152818-48153259	GM12878	blood:	n/a	n/a
16	CHD2	chr12:48152818-48152909	HepG2	liver:	n/a	n/a
17	CHD2	chr12:48152580-48153402	GM12878	blood:	n/a	chr12:48152701-48152711 chr12:48152737-48152747
18	CHD2	chr12:48152884-48153289	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr12:48152747-48153286	K562	blood:	n/a	n/a
20	CHD2	chr12:48150047-48150053	GM12878	blood:	n/a	n/a
21	CHD2	chr12:48152524-48153379	Hela-S3	cervix:	n/a	chr12:48152701-48152711 chr12:48152737-48152747
22	CREB1	chr12:48152489-48153083	A549	lung:	n/a	n/a
23	CTBP2	chr12:48151976-48153534	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr12:48152860-48153010	HEK293	kidney:	n/a	n/a
25	CTCF	chr12:48152847-48153028	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr12:48152723-48153537	HepG2	liver:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
27	CTCF	chr12:48152940-48153090	GM12865	blood:	n/a	n/a
28	CTCF	chr12:48152806-48153096	GM12891	blood:	n/a	n/a
29	CTCF	chr12:48152860-48153010	GM12866	blood:	n/a	n/a
30	CTCF	chr12:48152880-48153030	GM12866	blood:	n/a	n/a
31	CTCF	chr12:48152828-48153061	NHEK	skin:	n/a	n/a
32	CTCF	chr12:48152829-48153058	MCF-7	breast:	n/a	n/a
33	CTCF	chr12:48152820-48152970	GM12867	blood:	n/a	n/a
34	CTCF	chr12:48152666-48153556	K562	blood:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
35	CTCF	chr12:48152880-48153030	BJ	skin:	n/a	n/a
36	CTCF	chr12:48152900-48153050	HPAF	blood vessel:	n/a	n/a
37	CTCF	chr12:48152840-48152990	HMEC	breast:	n/a	n/a
38	CTCF	chr12:48152770-48153017	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr12:48152642-48152677	GM10248	blood:	n/a	n/a
40	CTCF	chr12:48152840-48152990	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr12:48152860-48153010	AG10803	skin:	n/a	n/a
42	CTCF	chr12:48152849-48153049	MCF-7	breast:	n/a	n/a
43	CTCF	chr12:48152880-48153030	HCT-116	colon:	n/a	n/a
44	CTCF	chr12:48152880-48153030	A549	lung:	n/a	n/a
45	CTCF	chr12:48152940-48153090	GM12868	blood:	n/a	n/a
46	CTCF	chr12:48152860-48153010	HAc	cerebellar:	n/a	n/a
47	CTCF	chr12:48152840-48152990	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr12:48152729-48152738	GM19238	blood:	n/a	n/a
49	CTCF	chr12:48152860-48153010	GM12870	blood:	n/a	n/a
50	CTCF	chr12:48152860-48153010	SK-N-SH_RA	brain:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48152204-48152254	HRCEpiC	kidney:	n/a
2	chr12:48152204-48152254	HRCEpiC	kidney:	n/a
3	chr12:48152428-48152478	NHBE	bronchial:	n/a
4	chr12:48152585-48152635	Hepatocyte	liver:	n/a
5	chr12:48152951-48153001	NHBE	bronchial:	n/a
6	chr12:48152515-48152565	HMEC	breast:	n/a
7	chr12:48152844-48152894	Hela-S3	cervix:	n/a
8	chr12:48152515-48152565	Jurkat	blood:	n/a
9	chr12:48152951-48153001	LNCaP	prostate:	n/a
10	chr12:48152204-48152254	HCM	heart:	n/a
11	chr12:48152515-48152565	GM12891	blood:	n/a
12	chr12:48152585-48152635	HRPEpiC	eye:	n/a
13	chr12:48152399-48152449	NHDF-neo	bronchial:	n/a
14	chr12:48152844-48152894	NH-A	brain:	n/a
15	chr12:48152951-48153001	HepG2	liver:	n/a
16	chr12:48152951-48153001	BE2_C	brain:	n/a
17	chr12:48152844-48152894	SK-N-SH_RA	brain:	n/a
18	chr12:48152931-48152981	SAEC	small airway:	n/a
19	chr12:48152515-48152565	HEK293	kidney:	embryo
20	chr12:48152204-48152254	T-47D	breast:	n/a
21	chr12:48152903-48152953	Caco-2	colon:	n/a
22	chr12:48152399-48152449	MCF-7	breast:	n/a
23	chr12:48152428-48152478	HCPEpiC	choroid plexus:	n/a
24	chr12:48152204-48152254	PANC-1	pancreas:	n/a
25	chr12:48152928-48152978	Hepatocyte	liver:	n/a
26	chr12:48152585-48152635	SKMC	muscle:	n/a
27	chr12:48152399-48152449	ovcar-3	ovarian:	n/a
28	chr12:48152928-48152978	NHBE	bronchial:	n/a
29	chr12:48152399-48152449	GM12891	blood:	n/a
30	chr12:48152951-48153001	H1-hESC	embryonic stem cell:	embryo
31	chr12:48152428-48152478	NB4	blood:	n/a
32	chr12:48152428-48152478	HL-60	blood:	n/a
33	chr12:48152585-48152635	AG04450	lung:	fetal
34	chr12:48152585-48152635	SAEC	small airway:	n/a
35	chr12:48152399-48152449	GM06990	blood:	n/a
36	chr12:48152928-48152978	GM12878	blood:	n/a
37	chr12:48152928-48152978	HUVEC	blood vessel:	n/a
38	chr12:48152844-48152894	SK-N-SH	brain:	n/a
39	chr12:48152951-48153001	Hepatocyte	liver:	n/a
40	chr12:48149863-48149913	NH-A	brain:	n/a
41	chr12:48152204-48152254	SKMC	muscle:	n/a
42	chr12:48152844-48152894	SAEC	small airway:	n/a
43	chr12:48152951-48153001	ProgFib	skin:	n/a
44	chr12:48152204-48152254	PFSK-1	brain:	n/a
45	chr12:48152399-48152449	MCF10A-Er-Src	breast:	n/a
46	chr12:48152931-48152981	IMR90	lung:	fetal
47	chr12:48149863-48149913	Hela-S3	cervix:	n/a
48	chr12:48152844-48152894	BJ	skin:	n/a
49	chr12:48152515-48152565	HAEpiC	amniotic membrane:	n/a
50	chr12:48152931-48152981	GM12892	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48152241..48154431-chr12:48164400..48166889,3	K562	blood:
2	chr12:48136067..48137625-chr12:48149838..48151816,2	K562	blood:
3	chr12:48143654..48145769-chr12:48149480..48151758,2	K562	blood:
4	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
5	chr12:48134835..48139182-chr12:48152118..48155732,5	MCF-7	breast:
6	chr12:48135691..48136363-chr12:48152705..48153606,3	MCF-7	breast:
7	chr12:48149372..48151812-chr12:48213789..48216551,2	MCF-7	breast:
8	chr12:48144826..48150380-chr12:48164026..48173211,11	K562	blood:
9	chr12:48135732..48136292-chr12:48152879..48153484,2	MCF-7	breast:
10	chr12:48148726..48150378-chr12:48297476..48299257,2	MCF-7	breast:
11	chr12:48151782..48154257-chr12:48166848..48168699,2	MCF-7	breast:
12	chr12:48099022..48099877-chr12:48152859..48153391,2	MCF-7	breast:
13	chr12:48149008..48151227-chr12:48151474..48154219,4	K562	blood:
14	chr12:48135721..48136674-chr12:48152904..48153797,3	K562	blood:
15	chr12:48151756..48154631-chr12:48166805..48168592,3	MCF-7	breast:
16	chr12:48097907..48100262-chr12:48151350..48154397,3	K562	blood:
17	chr12:48146163..48148373-chr12:48150555..48153521,2	K562	blood:
18	chr12:48137493..48138878-chr12:48152464..48153861,18	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMEM106C-7	chr12:48149485-48150268	NONHSAT027942

No data

Variant related genes	Relation type
SLC48A1	TF binding region
RAPGEF3	TF binding region
SLC48A1	CpG island
RAPGEF3	CpG island
ENSG00000005175	chromatin interactions
ENSG00000061273	chromatin interactions
ENSG00000079337	chromatin interactions
ENSG00000211584	chromatin interactions
ENSG00000111424	chromatin interactions
ENSG00000257433	chromatin interactions

Extended variants
information (count: 148 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:148 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2238142	chr12:48149752-48149753	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs145284633	chr12:48149772-48149773	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
3	rs371254501	chr12:48149776-48149777	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
4	rs553437355	chr12:48149796-48149797	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
5	rs188537571	chr12:48149804-48149805	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
6	rs77598635	chr12:48149850-48149851	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
7	rs557559248	chr12:48149856-48149857	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
8	rs73304418	chr12:48149863-48149864	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537571662	chr12:48149886-48149887	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
10	rs377042912	chr12:48149888-48149889	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
11	rs368004892	chr12:48149900-48149901	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
12	rs562939511	chr12:48149912-48149913	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
13	rs528860223	chr12:48149938-48149939	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	Overlapped CNVs	n/a
14	rs576910363	chr12:48150005-48150006	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
15	rs541109126	chr12:48150011-48150012	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
16	rs559416332	chr12:48150036-48150037	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
17	rs559141933	chr12:48150049-48150050	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
18	rs551932497	chr12:48150059-48150060	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
19	rs571904022	chr12:48150113-48150114	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
20	rs369198829	chr12:48150204-48150205	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
21	rs531222629	chr12:48150208-48150209	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
22	rs112042474	chr12:48150224-48150225	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
23	rs551343124	chr12:48150233-48150234	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
24	rs113463763	chr12:48150237-48150238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
25	rs536663520	chr12:48150243-48150244	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
26	rs529640885	chr12:48150295-48150296	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs12818212	chr12:48150303-48150304	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs142676489	chr12:48150320-48150321	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs376317613	chr12:48150380-48150381	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs75167642	chr12:48150385-48150386	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs577459655	chr12:48150405-48150406	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs117379012	chr12:48150409-48150410	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs115275806	chr12:48150411-48150412	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs369966227	chr12:48150417-48150418	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs114220600	chr12:48150448-48150449	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs376182190	chr12:48150469-48150470	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs569132787	chr12:48150480-48150481	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs559115913	chr12:48150519-48150520	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs12817548	chr12:48150536-48150537	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs545165396	chr12:48150545-48150546	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs565476645	chr12:48150546-48150547	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs531131942	chr12:48150604-48150605	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs551256980	chr12:48150605-48150606	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs561589776	chr12:48150612-48150613	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs530354461	chr12:48150634-48150635	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs546956975	chr12:48150664-48150665	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs566790437	chr12:48150737-48150738	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs112318307	chr12:48150749-48150750	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs377218228	chr12:48150761-48150762	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs61275291	chr12:48150777-48150778	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:503 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48144200-48150000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:48144200-48150200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:48144200-48151000	Weak transcription	Brain Germinal Matrix	brain
4	chr12:48145400-48150800	Enhancers	NHDF-Ad	bronchial
5	chr12:48145400-48151400	Enhancers	Placenta	Placenta
6	chr12:48145600-48149800	Enhancers	HSMMtube	muscle
7	chr12:48145600-48150000	Enhancers	Fetal Muscle Trunk	muscle
8	chr12:48145600-48150200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr12:48145600-48150800	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:48145600-48151000	Enhancers	Spleen	Spleen
11	chr12:48145800-48151200	Enhancers	Gastric	stomach
12	chr12:48146000-48151400	Enhancers	Stomach Mucosa	stomach
13	chr12:48146200-48150200	Enhancers	Fetal Muscle Leg	muscle
14	chr12:48146600-48150400	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr12:48147000-48150400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:48147000-48151800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:48147000-48152200	Enhancers	Primary B cells from peripheral blood	blood
18	chr12:48147000-48152400	Enhancers	Primary B cells from cord blood	blood
19	chr12:48147000-48152400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr12:48147200-48150400	Enhancers	Pancreas	Pancrea
21	chr12:48147200-48150800	Enhancers	Ovary	ovary
22	chr12:48147600-48150000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:48147600-48150000	Flanking Active TSS	Adipose Nuclei	Adipose
24	chr12:48147600-48151400	Weak transcription	Fetal Intestine Large	intestine
25	chr12:48147800-48149800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:48147800-48150000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:48147800-48150200	Enhancers	Small Intestine	intestine
28	chr12:48147800-48151400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:48148000-48150200	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr12:48148000-48150800	Enhancers	HUVEC	blood vessel
31	chr12:48148000-48151400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr12:48148000-48151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr12:48148000-48151800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:48148000-48152200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:48148200-48149800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:48148200-48149800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:48148200-48150000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr12:48148200-48150200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:48148200-48151000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:48148200-48151200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr12:48148200-48151200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:48148200-48151200	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:48148200-48151400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:48148200-48151400	Weak transcription	NHLF	lung
45	chr12:48148400-48149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:48148400-48150000	Flanking Active TSS	GM12878-XiMat	blood
47	chr12:48148400-48150200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:48148400-48150200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
49	chr12:48148400-48150800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr12:48148400-48151200	Weak transcription	NH-A	brain

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