Variant report

Variant	nsv576507
Chromosome Location	chr18:12657195-12673187
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:660)
CpG islands
(count:549)
Chromatin interactive
region (count:36)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:660 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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	chr18:12672730-12672742	K562	blood:	n/a	n/a
3	BACH1	chr18:12672683-12672881	K562	blood:	n/a	n/a
4	BACH1	chr18:12656956-12658031	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr18:12658233-12658814	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr18:12659890-12660151	GM12878	blood:	n/a	n/a
7	BHLHE40	chr18:12657711-12657720	HepG2	liver:	n/a	n/a
8	BHLHE40	chr18:12658128-12658361	K562	blood:	n/a	n/a
9	BHLHE40	chr18:12656971-12657245	K562	blood:	n/a	chr18:12657213-12657229
10	BHLHE40	chr18:12658019-12658356	HepG2	liver:	n/a	n/a
11	BHLHE40	chr18:12658112-12658339	GM12878	blood:	n/a	n/a
12	BRCA1	chr18:12657677-12657702	HepG2	liver:	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	chr18:12666350-12666670	H1-hESC	embryonic stem cell:	n/a	chr18:12666493-12666504
17	CEBPB	chr18:12666344-12666581	IMR90	lung:	n/a	chr18:12666493-12666504
18	CEBPB	chr18:12666350-12666680	HepG2	liver:	n/a	chr18:12666493-12666504
19	CEBPB	chr18:12666353-12666685	K562	blood:	n/a	chr18:12666493-12666504
20	CEBPB	chr18:12666345-12666667	A549	lung:	n/a	chr18:12666493-12666504
21	CEBPB	chr18:12658017-12658217	Hela-S3	cervix:	n/a	n/a
22	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
23	CHD1	chr18:12659652-12660334	IMR90	lung:	n/a	n/a
24	CHD2	chr18:12657439-12657480	HepG2	liver:	n/a	n/a
25	CHD2	chr18:12657035-12658381	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr18:12658542-12658645	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr18:12656957-12658467	HepG2	liver:	n/a	n/a
28	CREB1	chr18:12657013-12657382	A549	lung:	n/a	n/a
29	CREB1	chr18:12657763-12658498	A549	lung:	n/a	n/a
30	CREB1	chr18:12658035-12658519	H1-hESC	embryonic stem cell:	n/a	n/a
31	CREB1	chr18:12657351-12657811	K562	blood:	n/a	n/a
32	CTBP2	chr18:12657860-12658806	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr18:12659923-12660192	GM12878	blood:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
34	CTCF	chr18:12660368-12660415	Lung_OC	lung:	n/a	n/a
35	CTCF	chr18:12660000-12660150	GM12873	blood:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
36	CTCF	chr18:12659980-12660130	AG04450	lung:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
37	CTCF	chr18:12658600-12658750	HRE	kidney:	n/a	n/a
38	CTCF	chr18:12658326-12658348	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr18:12658212-12658419	GM12891	blood:	n/a	n/a
40	CTCF	chr18:12658100-12658250	AG04450	lung:	n/a	n/a
41	CTCF	chr18:12658260-12658410	HMEC	breast:	n/a	n/a
42	CTCF	chr18:12659827-12660195	K562	blood:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
43	CTCF	chr18:12659960-12660110	HCM	heart:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
44	CTCF	chr18:12660020-12660170	NHEK	skin:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
45	CTCF	chr18:12658200-12658350	HEK293	kidney:	n/a	n/a
46	CTCF	chr18:12659782-12660240	A549	lung:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
47	CTCF	chr18:12659949-12660173	MCF-7	breast:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
48	CTCF	chr18:12659960-12660110	GM12878	blood:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
49	CTCF	chr18:12659980-12660130	GM12864	blood:	n/a	chr18:12660031-12660049 chr18:12660026-12660047
50	CTCF	chr18:12659980-12660130	HEK293	kidney:	n/a	chr18:12660031-12660049 chr18:12660026-12660047

(count:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12659100-12659150	NHBE	bronchial:	n/a
2	chr18:12659100-12659150	HepG2	liver:	n/a
3	chr18:12657166-12657216	AG10803	skin:	n/a
4	chr18:12657166-12657216	K562	blood:	n/a
5	chr18:12661496-12661546	T-47D	breast:	n/a
6	chr18:12672632-12672682	NT2-D1	testis:	n/a
7	chr18:12661496-12661546	GM12891	blood:	n/a
8	chr18:12657749-12657799	HL-60	blood:	n/a
9	chr18:12661496-12661546	HRCEpiC	kidney:	n/a
10	chr18:12658644-12658694	GM06990	blood:	n/a
11	chr18:12657166-12657216	HIPEpiC	eye:	n/a
12	chr18:12657166-12657216	HepG2	liver:	n/a
13	chr18:12659100-12659150	HMEC	breast:	n/a
14	chr18:12657749-12657799	MCF-7	breast:	n/a
15	chr18:12658644-12658694	HCM	heart:	n/a
16	chr18:12659100-12659150	HCM	heart:	n/a
17	chr18:12657749-12657799	HNPCEpiC	eye:	n/a
18	chr18:12657749-12657799	NHBE	bronchial:	n/a
19	chr18:12657909-12657959	SK-N-SH_RA	brain:	n/a
20	chr18:12657749-12657799	HRCEpiC	kidney:	n/a
21	chr18:12657749-12657799	K562	blood:	n/a
22	chr18:12657749-12657799	AG09319	gingival:	n/a
23	chr18:12657692-12657742	GM12878	blood:	n/a
24	chr18:12657166-12657216	PrEC	prostate:	n/a
25	chr18:12661496-12661546	PFSK-1	brain:	n/a
26	chr18:12659100-12659150	U87	brain:	n/a
27	chr18:12659100-12659150	BE2_C	brain:	n/a
28	chr18:12659100-12659150	NHDF-neo	bronchial:	n/a
29	chr18:12661496-12661546	HUVEC	blood vessel:	n/a
30	chr18:12661496-12661546	K562	blood:	n/a
31	chr18:12658644-12658694	AG04449	skin:	fetal
32	chr18:12659100-12659150	A549	lung:	n/a
33	chr18:12657166-12657216	PFSK-1	brain:	n/a
34	chr18:12658644-12658694	HUVEC	blood vessel:	n/a
35	chr18:12657692-12657742	A549	lung:	n/a
36	chr18:12658233-12658283	NB4	blood:	n/a
37	chr18:12657166-12657216	AG09309	skin:	n/a
38	chr18:12658644-12658694	MCF-7	breast:	n/a
39	chr18:12661496-12661546	LNCaP	prostate:	n/a
40	chr18:12658644-12658694	SK-N-SH_RA	brain:	n/a
41	chr18:12672632-12672682	A549	lung:	n/a
42	chr18:12657166-12657216	BJ	skin:	n/a
43	chr18:12657166-12657216	IMR90	lung:	fetal
44	chr18:12672632-12672682	PrEC	prostate:	n/a
45	chr18:12658644-12658694	Hela-S3	cervix:	n/a
46	chr18:12657749-12657799	AG04449	skin:	fetal
47	chr18:12661496-12661546	BJ	skin:	n/a
48	chr18:12658644-12658694	NHDF-neo	bronchial:	n/a
49	chr18:12672632-12672682	Hepatocyte	liver:	n/a
50	chr18:12657749-12657799	SAEC	small airway:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr18:12422525..12425509-chr18:12660961..12663016,2	MCF-7	breast:
2	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
3	chr18:12657540..12658417-chr22:46475896..46476854,2	Hela-S3	cervix:
4	chr18:12375685..12377446-chr18:12655932..12658656,3	MCF-7	breast:
5	chr18:12307735..12310451-chr18:12655693..12658579,2	MCF-7	breast:
6	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
7	chr18:12656965..12658732-chr18:12666795..12668620,2	K562	blood:
8	chr18:12391424..12392321-chr18:12659300..12660519,6	K562	blood:
9	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
10	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
11	chr18:12651259..12653780-chr18:12656567..12658681,4	MCF-7	breast:
12	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
13	chr18:12271566..12272281-chr18:12659989..12660492,2	K562	blood:
14	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
15	chr18:12539647..12540474-chr18:12659592..12660142,2	MCF-7	breast:
16	chr18:12671690..12675080-chr18:12702112..12705449,3	MCF-7	breast:
17	chr18:12672017..12674011-chr18:12701088..12702712,2	MCF-7	breast:
18	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
19	chr18:12391478..12392229-chr18:12659562..12660272,2	MCF-7	breast:
20	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
21	chr18:12478411..12479284-chr18:12659311..12660299,2	MCF-7	breast:
22	chr18:12659961..12660489-chr18:12934180..12934753,2	K562	blood:
23	chr18:12423062..12423996-chr18:12659741..12660319,3	MCF-7	breast:
24	chr18:12539903..12541513-chr18:12659241..12661468,2	MCF-7	breast:
25	chr18:12658848..12660471-chr18:12660520..12662160,2	MCF-7	breast:
26	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
27	chr18:12394245..12395081-chr18:12659306..12659834,2	MCF-7	breast:
28	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
29	chr18:12443233..12445110-chr18:12655911..12658418,2	MCF-7	breast:
30	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
31	chr18:12394101..12395048-chr18:12659577..12660941,6	MCF-7	breast:
32	chr18:12422648..12423634-chr18:12659546..12660559,6	MCF-7	breast:
33	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
34	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
35	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:
36	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CEP76-1	chr18:12670425-12671144	ENSG00000267249.1

No data

Variant related genes	Relation type
PSMG2	TF binding region
SPIRE1	TF binding region
ENSG00000267249	TF binding region
ENSG00000215527	TF binding region
PSMG2	CpG island
SPIRE1	CpG island
ENSG00000267249	CpG island
ENSG00000215527	CpG island
ENSG00000141391	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000267199	chromatin interactions
ENSG00000176014	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000197182	chromatin interactions

Extended variants
information (count: 583 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:583 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	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
30	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
31	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
32	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
33	rs565726100	chr18:12658252-12658253	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs141693404	chr18:12658262-12658263	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
35	rs34739227	chr18:12658269-12658270	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
36	rs554749966	chr18:12658309-12658310	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
37	rs567849664	chr18:12658339-12658340	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
38	rs888266	chr18:12658436-12658437	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
39	rs538475254	chr18:12658500-12658501	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
40	rs182085739	chr18:12658556-12658557	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
41	rs578198884	chr18:12658585-12658586	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs146335075	chr18:12658595-12658596	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs1062235	chr18:12658600-12658601	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs561769930	chr18:12658608-12658609	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs114100002	chr18:12658644-12658645	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs542704915	chr18:12658688-12658689	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs561081058	chr18:12658699-12658700	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs373220220	chr18:12658720-12658721	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs562679490	chr18:12658869-12658870	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs186724614	chr18:12658879-12658880	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12653800-12670400	Weak transcription	Dnd41	blood
2	chr18:12655400-12657200	Active TSS	Fetal Brain Male	brain
3	chr18:12655400-12657400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr18:12655400-12658200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr18:12655400-12658200	Active TSS	Brain Germinal Matrix	brain
6	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
8	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
10	chr18:12655800-12659000	Active TSS	NHLF	lung
11	chr18:12656000-12657200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:12656000-12658600	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr18:12656000-12658600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12656000-12658600	Active TSS	HepG2	liver
15	chr18:12656000-12658600	Active TSS	NH-A	brain
16	chr18:12656000-12658600	Active TSS	NHEK	skin
17	chr18:12656000-12658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12656000-12659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:12656000-12659000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:12656000-12659000	Active TSS	HSMM	muscle
21	chr18:12656000-12659200	Active TSS	HSMMtube	muscle
22	chr18:12656200-12658000	Active TSS	K562	blood
23	chr18:12656200-12659400	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr18:12656400-12657400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr18:12656400-12658600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:12656400-12658600	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr18:12656400-12658600	Active TSS	HMEC	breast
28	chr18:12656400-12658800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr18:12656400-12658800	Active TSS	NHDF-Ad	bronchial
30	chr18:12656400-12659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr18:12656400-12659000	Active TSS	Stomach Smooth Muscle	stomach
32	chr18:12656400-12659000	Active TSS	A549	lung
33	chr18:12656600-12657200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr18:12656600-12657200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr18:12656600-12657200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr18:12656600-12657200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
37	chr18:12656600-12657200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr18:12656600-12657200	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr18:12656600-12657200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr18:12656600-12657200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr18:12656600-12657400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
42	chr18:12656600-12657400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:12656600-12657400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr18:12656600-12657600	Active TSS	Right Atrium	heart
45	chr18:12656600-12658600	Active TSS	Aorta	Aorta
46	chr18:12656600-12658600	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr18:12656600-12658800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr18:12656600-12658800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr18:12656600-12658800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr18:12656600-12658800	Active TSS	Psoas Muscle	Psoas

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