Variant report

Variant	esv3323207
Chromosome Location	chr18:12656377-12658925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:457)
CpG islands
(count:550)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12658846-12659073	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:12656801-12656872	HepG2	liver:	n/a	n/a
3	BACH1	chr18:12656832-12657146	K562	blood:	n/a	n/a
4	BACH1	chr18:12658233-12658814	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:12656956-12658031	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr18:12656971-12657245	K562	blood:	n/a	chr18:12657213-12657229
7	BHLHE40	chr18:12658112-12658339	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:12658019-12658356	HepG2	liver:	n/a	n/a
9	BHLHE40	chr18:12658128-12658361	K562	blood:	n/a	n/a
10	BHLHE40	chr18:12657711-12657720	HepG2	liver:	n/a	n/a
11	BRCA1	chr18:12657677-12657702	HepG2	liver:	n/a	n/a
12	BRCA1	chr18:12656608-12656967	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr18:12656955-12657361	K562	blood:	n/a	n/a
14	CCNT2	chr18:12656952-12658330	K562	blood:	n/a	n/a
15	CCNT2	chr18:12658646-12658735	K562	blood:	n/a	n/a
16	CEBPB	chr18:12656640-12656957	K562	blood:	n/a	n/a
17	CEBPB	chr18:12656689-12656975	IMR90	lung:	n/a	n/a
18	CEBPB	chr18:12656641-12657030	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr18:12658017-12658217	Hela-S3	cervix:	n/a	n/a
20	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
21	CHD2	chr18:12658542-12658645	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr18:12657035-12658381	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr18:12657439-12657480	HepG2	liver:	n/a	n/a
24	CREB1	chr18:12657351-12657811	K562	blood:	n/a	n/a
25	CREB1	chr18:12657763-12658498	A549	lung:	n/a	n/a
26	CREB1	chr18:12656957-12658467	HepG2	liver:	n/a	n/a
27	CREB1	chr18:12657013-12657382	A549	lung:	n/a	n/a
28	CREB1	chr18:12658035-12658519	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTBP2	chr18:12657860-12658806	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr18:12657874-12657948	Fibrobl	skin:	n/a	n/a
31	CTCF	chr18:12658220-12658370	HRE	kidney:	n/a	n/a
32	CTCF	chr18:12658700-12658850	BJ	skin:	n/a	n/a
33	CTCF	chr18:12658205-12658444	GM19239	blood:	n/a	n/a
34	CTCF	chr18:12658086-12658345	IMR90	lung:	n/a	n/a
35	CTCF	chr18:12658180-12658330	GM12875	blood:	n/a	n/a
36	CTCF	chr18:12657845-12657884	GM13977	blood:	n/a	n/a
37	CTCF	chr18:12658160-12658310	GM06990	blood:	n/a	n/a
38	CTCF	chr18:12658260-12658410	HCFaa	heart:	n/a	n/a
39	CTCF	chr18:12658160-12658310	HBMEC	blood vessel:	n/a	n/a
40	CTCF	chr18:12658640-12658790	HAc	cerebellar:	n/a	n/a
41	CTCF	chr18:12657820-12657970	SK-N-SH_RA	brain:	n/a	n/a
42	CTCF	chr18:12658140-12658290	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr18:12657160-12657310	AG04449	skin:	n/a	n/a
44	CTCF	chr18:12658160-12658310	SAEC	small airway:	n/a	n/a
45	CTCF	chr18:12658148-12658420	GM19238	blood:	n/a	n/a
46	CTCF	chr18:12657828-12657947	MCF-7	breast:	n/a	n/a
47	CTCF	chr18:12658700-12658850	HCFaa	heart:	n/a	n/a
48	CTCF	chr18:12658277-12658417	MCF-7	breast:	n/a	n/a
49	CTCF	chr18:12658220-12658370	GM12864	blood:	n/a	n/a
50	CTCF	chr18:12658640-12658790	AG10803	skin:	n/a	n/a

(count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12658644-12658694	LNCaP	prostate:	n/a
2	chr18:12658644-12658694	LNCaP	prostate:	n/a
3	chr18:12656824-12656874	HRPEpiC	eye:	n/a
4	chr18:12658233-12658283	GM19239	blood:	n/a
5	chr18:12657166-12657216	HRE	kidney:	n/a
6	chr18:12657692-12657742	HL-60	blood:	n/a
7	chr18:12657056-12657106	AG04449	skin:	fetal
8	chr18:12656824-12656874	RPTEC	kidney:	n/a
9	chr18:12657749-12657799	HCT-116	colon:	n/a
10	chr18:12656824-12656874	ECC-1	luminal epithelium:	n/a
11	chr18:12657909-12657959	HPAEpiC	pulmonary alveolar:	n/a
12	chr18:12657056-12657106	HL-60	blood:	n/a
13	chr18:12657166-12657216	PANC-1	pancreas:	n/a
14	chr18:12657692-12657742	K562	blood:	n/a
15	chr18:12658233-12658283	HEEpiC	esophagus:	n/a
16	chr18:12657749-12657799	SK-N-SH_RA	brain:	n/a
17	chr18:12657692-12657742	RPTEC	kidney:	n/a
18	chr18:12657166-12657216	IMR90	lung:	fetal
19	chr18:12657692-12657742	NHBE	bronchial:	n/a
20	chr18:12658233-12658283	HUVEC	blood vessel:	n/a
21	chr18:12657749-12657799	GM06990	blood:	n/a
22	chr18:12656910-12656960	A549	lung:	n/a
23	chr18:12657166-12657216	HepG2	liver:	n/a
24	chr18:12657166-12657216	BJ	skin:	n/a
25	chr18:12657749-12657799	NT2-D1	testis:	n/a
26	chr18:12657909-12657959	HCT-116	colon:	n/a
27	chr18:12658233-12658283	HRCEpiC	kidney:	n/a
28	chr18:12657749-12657799	ovcar-3	ovarian:	n/a
29	chr18:12656910-12656960	PFSK-1	brain:	n/a
30	chr18:12656910-12656960	BJ	skin:	n/a
31	chr18:12657056-12657106	HPAEpiC	pulmonary alveolar:	n/a
32	chr18:12657692-12657742	CMK	blood:	n/a
33	chr18:12657056-12657106	AG09319	gingival:	n/a
34	chr18:12656910-12656960	HNPCEpiC	eye:	n/a
35	chr18:12657692-12657742	HCT-116	colon:	n/a
36	chr18:12657692-12657742	AG10803	skin:	n/a
37	chr18:12657749-12657799	HUVEC	blood vessel:	n/a
38	chr18:12658233-12658283	ovcar-3	ovarian:	n/a
39	chr18:12657056-12657106	HCM	heart:	n/a
40	chr18:12656910-12656960	H1-hESC	embryonic stem cell:	embryo
41	chr18:12656824-12656874	GM19239	blood:	n/a
42	chr18:12657692-12657742	BE2_C	brain:	n/a
43	chr18:12657909-12657959	LNCaP	prostate:	n/a
44	chr18:12657749-12657799	A549	lung:	n/a
45	chr18:12656910-12656960	GM12891	blood:	n/a
46	chr18:12657056-12657106	BE2_C	brain:	n/a
47	chr18:12657909-12657959	AG09309	skin:	n/a
48	chr18:12657692-12657742	ovcar-3	ovarian:	n/a
49	chr18:12657749-12657799	K562	blood:	n/a
50	chr18:12657909-12657959	PFSK-1	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
2	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
3	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
4	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:
5	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
6	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
7	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
8	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
9	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
10	chr18:12657540..12658417-chr22:46475896..46476854,2	Hela-S3	cervix:
11	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
12	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
13	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
14	chr18:12543497..12545408-chr18:12653876..12656459,2	MCF-7	breast:
15	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
16	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
17	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
18	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
19	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
20	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
21	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
22	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000215527	TF binding region
PSMG2	TF binding region
SPIRE1	TF binding region
ENSG00000215527	CpG island
PSMG2	CpG island
SPIRE1	CpG island
ENSG00000101624	chromatin interactions
ENSG00000141391	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000267199	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000197182	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000134278	chromatin interactions

Extended variants
information (count: 69 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150288156	chr18:12656389-12656390	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs372100259	chr18:12656392-12656393	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs539679774	chr18:12656429-12656430	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs45460897	chr18:12656495-12656496	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540496315	chr18:12656505-12656506	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs377346701	chr18:12656551-12656552	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs574399735	chr18:12656701-12656702	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs45598834	chr18:12656770-12656771	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs544575096	chr18:12656833-12656834	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs562872286	chr18:12656865-12656866	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs533411386	chr18:12656907-12656908	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs551843949	chr18:12656927-12656928	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs537733797	chr18:12656949-12656950	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs560415709	chr18:12657054-12657055	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs45520946	chr18:12657057-12657058	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs111560915	chr18:12657066-12657067	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs375798790	chr18:12657094-12657095	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs548920923	chr18:12657191-12657192	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
19	rs544337756	chr18:12657221-12657222	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs567183552	chr18:12657229-12657230	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs537753250	chr18:12657251-12657252	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs111822193	chr18:12657291-12657292	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs1105122	chr18:12657320-12657321	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs201043053	chr18:12657334-12657335	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs537631460	chr18:12657353-12657354	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs146027871	chr18:12657384-12657385	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs371514996	chr18:12657429-12657430	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs34472716	chr18:12657431-12657432	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs572065195	chr18:12657457-12657458	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs369751804	chr18:12657481-12657482	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs534365939	chr18:12657483-12657484	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs182090603	chr18:12657633-12657634	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs150658464	chr18:12657642-12657643	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs574335743	chr18:12657643-12657644	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs1058321	chr18:12657712-12657713	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs544916918	chr18:12657742-12657743	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs563215443	chr18:12657788-12657789	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
38	rs577954522	chr18:12657855-12657856	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs545094996	chr18:12657888-12657889	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs560600230	chr18:12657999-12658000	Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs527793785	chr18:12658006-12658007	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs4073592	chr18:12658045-12658046	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs560748120	chr18:12658055-12658056	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
44	rs531444697	chr18:12658067-12658068	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs139943173	chr18:12658075-12658076	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	mRNA abundance
46	rs575232552	chr18:12658108-12658109	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs575078871	chr18:12658123-12658124	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs571238760	chr18:12658189-12658190	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs3902981	chr18:12658191-12658192	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs190716086	chr18:12658205-12658206	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:414 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12646200-12657000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12646200-12657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:12646400-12656600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr18:12646400-12656600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr18:12646400-12657000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr18:12648000-12656800	Weak transcription	Left Ventricle	heart
7	chr18:12648400-12656600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:12648600-12656800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr18:12653200-12656400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:12653200-12656600	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr18:12653200-12656600	Weak transcription	Right Atrium	heart
12	chr18:12653200-12656600	Weak transcription	Right Ventricle	heart
13	chr18:12653200-12656800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:12653200-12656800	Weak transcription	Esophagus	oesophagus
15	chr18:12653200-12657000	Weak transcription	Spleen	Spleen
16	chr18:12653400-12656400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr18:12653400-12656400	Weak transcription	Stomach Smooth Muscle	stomach
18	chr18:12653400-12656600	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr18:12653400-12656600	Weak transcription	Aorta	Aorta
20	chr18:12653400-12656600	Weak transcription	Psoas Muscle	Psoas
21	chr18:12653400-12657000	Weak transcription	Pancreas	Pancrea
22	chr18:12653400-12657000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr18:12653600-12656400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr18:12653600-12656400	Weak transcription	A549	lung
25	chr18:12653600-12656600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr18:12653600-12656600	Weak transcription	Liver	Liver
27	chr18:12653600-12656600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:12653800-12656600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr18:12653800-12656800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr18:12653800-12656800	Weak transcription	Lung	lung
31	chr18:12653800-12656800	Weak transcription	Ovary	ovary
32	chr18:12653800-12670400	Weak transcription	Dnd41	blood
33	chr18:12654000-12656400	Weak transcription	Adipose Nuclei	Adipose
34	chr18:12654000-12656600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr18:12654000-12656800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr18:12655000-12656400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr18:12655400-12656400	Enhancers	Brain Hippocampus Middle	brain
38	chr18:12655400-12656400	Enhancers	Fetal Kidney	kidney
39	chr18:12655400-12656600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr18:12655400-12656600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr18:12655400-12656600	Enhancers	Brain Anterior Caudate	brain
42	chr18:12655400-12656600	Enhancers	Brain Substantia Nigra	brain
43	chr18:12655400-12656600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr18:12655400-12656600	Enhancers	Fetal Heart	heart
45	chr18:12655400-12656800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr18:12655400-12657200	Active TSS	Fetal Brain Male	brain
47	chr18:12655400-12657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
50	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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