Variant report

Variant	esv3433183
Chromosome Location	chr18:12883052-12885400
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:427)
Chromatin interactive
region (count:48)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:590 , 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	ARID3A	chr18:12883024-12883283	K562	blood:	n/a	n/a
2	ARID3A	chr18:12883937-12884249	HepG2	liver:	n/a	n/a
3	ATF2	chr18:12883569-12884311	GM12878	blood:	n/a	chr18:12883927-12883941
4	ATF3	chr18:12883808-12884315	K562	blood:	n/a	chr18:12884252-12884261 chr18:12884245-12884254
5	BACH1	chr18:12883363-12884594	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr18:12883691-12884347	GM12878	blood:	n/a	chr18:12884252-12884265 chr18:12883949-12883958
7	BCL3	chr18:12883882-12884415	A549	lung:	n/a	chr18:12884252-12884265 chr18:12883949-12883958
8	BCLAF1	chr18:12883216-12884340	GM12878	blood:	n/a	chr18:12884252-12884265 chr18:12883949-12883958
9	BCLAF1	chr18:12883839-12884340	GM12878	blood:	n/a	chr18:12884252-12884265 chr18:12883949-12883958
10	BHLHE40	chr18:12885061-12885968	GM12878	blood:	n/a	n/a
11	BHLHE40	chr18:12883080-12883197	K562	blood:	n/a	n/a
12	BHLHE40	chr18:12883664-12884684	K562	blood:	n/a	n/a
13	BHLHE40	chr18:12883610-12884364	HepG2	liver:	n/a	n/a
14	BHLHE40	chr18:12883556-12884744	GM12878	blood:	n/a	chr18:12883595-12883611
15	BRCA1	chr18:12883703-12884312	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr18:12884013-12884323	GM12878	blood:	n/a	n/a
17	BRCA1	chr18:12883298-12883399	GM12878	blood:	n/a	n/a
18	BRCA1	chr18:12883729-12884241	HepG2	liver:	n/a	n/a
19	CBX3	chr18:12883614-12884327	K562	blood:	n/a	n/a
20	CCNT2	chr18:12883289-12884604	K562	blood:	n/a	chr18:12884252-12884261
21	CEBPB	chr18:12884072-12884272	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr18:12883657-12884385	Hela-S3	cervix:	n/a	n/a
23	CEBPD	chr18:12885350-12885779	K562	blood:	n/a	n/a
24	CEBPD	chr18:12883604-12883837	HepG2	liver:	n/a	n/a
25	CEBPD	chr18:12883909-12884169	HepG2	liver:	n/a	n/a
26	CEBPD	chr18:12883910-12884345	HepG2	liver:	n/a	n/a
27	CEBPD	chr18:12883909-12884308	K562	blood:	n/a	n/a
28	CEBPD	chr18:12883526-12883879	HepG2	liver:	n/a	n/a
29	CHD1	chr18:12883747-12884209	H1-hESC	embryonic stem cell:	n/a	chr18:12883985-12883995 chr18:12884158-12884168
30	CHD1	chr18:12884493-12885656	GM12878	blood:	n/a	n/a
31	CHD1	chr18:12882779-12884238	GM12878	blood:	n/a	chr18:12883985-12883995 chr18:12884158-12884168
32	CHD1	chr18:12884549-12884718	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr18:12883636-12885163	GM12878	blood:	n/a	chr18:12883985-12883995 chr18:12884250-12884260 chr18:12884158-12884168
34	CHD2	chr18:12883885-12884345	H1-hESC	embryonic stem cell:	n/a	chr18:12883985-12883995 chr18:12884250-12884260 chr18:12884158-12884168
35	CHD2	chr18:12883645-12884367	K562	blood:	n/a	chr18:12883985-12883995 chr18:12884250-12884260 chr18:12884158-12884168
36	CHD2	chr18:12883118-12883207	GM12878	blood:	n/a	n/a
37	CHD2	chr18:12883826-12884427	HepG2	liver:	n/a	chr18:12883985-12883995 chr18:12884250-12884260 chr18:12884158-12884168
38	CHD2	chr18:12883378-12884630	Hela-S3	cervix:	n/a	chr18:12883985-12883995 chr18:12884250-12884260 chr18:12884158-12884168
39	CHD2	chr18:12883309-12883366	K562	blood:	n/a	n/a
40	CREB1	chr18:12883236-12884730	HepG2	liver:	n/a	n/a
41	CREB1	chr18:12883728-12884506	K562	blood:	n/a	n/a
42	CREB1	chr18:12883501-12884646	GM12878	blood:	n/a	n/a
43	CREB1	chr18:12883647-12884539	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr18:12883789-12884056	A549	lung:	n/a	n/a
45	CREB1	chr18:12883582-12884475	A549	lung:	n/a	n/a
46	CREB1	chr18:12883726-12884545	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr18:12884117-12884130	GM12878	blood:	n/a	n/a
48	CTCF	chr18:12883740-12883890	AG09319	gingival:	n/a	n/a
49	CTCF	chr18:12884000-12884150	GM12867	blood:	n/a	n/a
50	CTCF	chr18:12884689-12884721	Spleen_OC	spleen:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12884062-12884112	HepG2	liver:	n/a
2	chr18:12884175-12884225	Jurkat	blood:	n/a
3	chr18:12884567-12884617	HUVEC	blood vessel:	n/a
4	chr18:12884517-12884567	BE2_C	brain:	n/a
5	chr18:12884064-12884114	SK-N-MC	brain:	n/a
6	chr18:12884517-12884567	U87	brain:	n/a
7	chr18:12884564-12884614	BE2_C	brain:	n/a
8	chr18:12884564-12884614	A549	lung:	n/a
9	chr18:12884567-12884617	MCF10A-Er-Src	breast:	n/a
10	chr18:12884175-12884225	ECC-1	luminal epithelium:	n/a
11	chr18:12883603-12883653	Jurkat	blood:	n/a
12	chr18:12884064-12884114	PFSK-1	brain:	n/a
13	chr18:12883603-12883653	HPAEpiC	pulmonary alveolar:	n/a
14	chr18:12883603-12883653	A549	lung:	n/a
15	chr18:12884175-12884225	IMR90	lung:	fetal
16	chr18:12884175-12884225	BE2_C	brain:	n/a
17	chr18:12884564-12884614	AG04450	lung:	fetal
18	chr18:12883603-12883653	SKMC	muscle:	n/a
19	chr18:12884564-12884614	GM12892	blood:	n/a
20	chr18:12884062-12884112	ovcar-3	ovarian:	n/a
21	chr18:12884062-12884112	GM12891	blood:	n/a
22	chr18:12884064-12884114	PrEC	prostate:	n/a
23	chr18:12883603-12883653	SK-N-SH	brain:	n/a
24	chr18:12883603-12883653	HEK293	kidney:	embryo
25	chr18:12884567-12884617	HepG2	liver:	n/a
26	chr18:12884062-12884112	HEK293	kidney:	embryo
27	chr18:12884567-12884617	BJ	skin:	n/a
28	chr18:12884062-12884112	HNPCEpiC	eye:	n/a
29	chr18:12884517-12884567	HCT-116	colon:	n/a
30	chr18:12884564-12884614	IMR90	lung:	fetal
31	chr18:12884567-12884617	HRCEpiC	kidney:	n/a
32	chr18:12884175-12884225	HMEC	breast:	n/a
33	chr18:12884567-12884617	SKMC	muscle:	n/a
34	chr18:12884062-12884112	AG04449	skin:	fetal
35	chr18:12884062-12884112	SK-N-SH_RA	brain:	n/a
36	chr18:12884567-12884617	RPTEC	kidney:	n/a
37	chr18:12884567-12884617	PFSK-1	brain:	n/a
38	chr18:12884517-12884567	AG09309	skin:	n/a
39	chr18:12884062-12884112	NH-A	brain:	n/a
40	chr18:12884567-12884617	GM12878	blood:	n/a
41	chr18:12883603-12883653	MCF10A-Er-Src	breast:	n/a
42	chr18:12884517-12884567	GM12891	blood:	n/a
43	chr18:12884062-12884112	NT2-D1	testis:	n/a
44	chr18:12884564-12884614	HAEpiC	amniotic membrane:	n/a
45	chr18:12884564-12884614	GM12891	blood:	n/a
46	chr18:12884517-12884567	NH-A	brain:	n/a
47	chr18:12884567-12884617	HCT-116	colon:	n/a
48	chr18:12884567-12884617	AG04450	lung:	fetal
49	chr18:12884064-12884114	HEEpiC	esophagus:	n/a
50	chr18:12884517-12884567	HIPEpiC	eye:	n/a

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:69796121..69796656-chr18:12883876..12884654,2	Hela-S3	cervix:
2	chr15:41694307..41694945-chr18:12883793..12884443,2	Hela-S3	cervix:
3	chr1:147806040..147807089-chr18:12883758..12884527,3	Hela-S3	cervix:
4	chr18:12882295..12883903-chr18:12953395..12955724,2	K562	blood:
5	chr18:12862494..12865307-chr18:12880258..12883236,3	MCF-7	breast:
6	chr11:75110573..75111082-chr18:12883776..12884593,2	Hela-S3	cervix:
7	chr18:12883923..12884448-chr2:96011969..96012489,2	Hela-S3	cervix:
8	chr18:12880282..12884361-chr18:12946145..12949673,9	K562	blood:
9	chr18:12883270..12884142-chr5:34838946..34839489,2	HCT-116	colon:
10	chr15:65596946..65598700-chr18:12882626..12885488,2	MCF-7	breast:
11	chr18:12883650..12884263-chrX:109245703..109246214,2	Hela-S3	cervix:
12	chr16:4475407..4476017-chr18:12883945..12884638,2	Hela-S3	cervix:
13	chr10:101190701..101191272-chr18:12884017..12884694,2	Hela-S3	cervix:
14	chr18:12702487..12704134-chr18:12881395..12884232,2	MCF-7	breast:
15	chr18:12885210..12887915-chr18:12922240..12924261,2	K562	blood:
16	chr18:12883912..12884619-chr3:141205723..141206246,2	Hela-S3	cervix:
17	chr18:12699803..12702594-chr18:12881299..12884040,2	K562	blood:
18	chr12:6875531..6876528-chr18:12883727..12884284,2	Hela-S3	cervix:
19	chr18:12883748..12884411-chr5:137878834..137879510,2	Hela-S3	cervix:
20	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
21	chr18:12884698..12887915-chr18:12921814..12925737,3	K562	blood:
22	chr1:84971759..84972422-chr18:12883583..12884223,2	Hela-S3	cervix:
23	chr1:145382262..145383113-chr18:12883770..12884685,2	Hela-S3	cervix:
24	chr12:105501007..105501649-chr18:12884012..12884801,2	Hela-S3	cervix:
25	chr18:12869114..12870887-chr18:12882231..12883982,2	K562	blood:
26	chr18:12883574..12884321-chr19:1269204..1269887,2	Hela-S3	cervix:
27	chr1:28907896..28908672-chr18:12883704..12884487,2	Hela-S3	cervix:
28	chr18:12808897..12811465-chr18:12881476..12883993,2	MCF-7	breast:
29	chr18:12883825..12884548-chr19:56116434..56117103,2	Hela-S3	cervix:
30	chr18:12881395..12884200-chr18:12946697..12949759,6	MCF-7	breast:
31	chr18:12827164..12830026-chr18:12882449..12884069,2	K562	blood:
32	chr18:12882667..12884316-chr18:13724618..13726583,2	K562	blood:
33	chr18:12865974..12868849-chr18:12882069..12883733,2	MCF-7	breast:
34	chr17:40272993..40273808-chr18:12884016..12884888,2	Hela-S3	cervix:
35	chr17:8076499..8077007-chr18:12883737..12884359,2	Hela-S3	cervix:
36	chr18:12880723..12883598-chr18:12902234..12904693,2	K562	blood:
37	chr18:12883600..12884285-chr19:40596090..40596674,2	HCT-116	colon:
38	chr18:12883550..12884300-chr8:22084933..22085873,2	Hela-S3	cervix:
39	chr18:12880282..12885478-chr18:12946145..12950206,8	K562	blood:
40	chr18:12843323..12846138-chr18:12882410..12884352,2	MCF-7	breast:
41	chr18:12760116..12762309-chr18:12883836..12885442,2	K562	blood:
42	chr18:12699667..12702594-chr18:12881299..12884281,3	K562	blood:
43	chr1:115212841..115213576-chr18:12883945..12884614,2	Hela-S3	cervix:
44	chr11:59436284..59437132-chr18:12883857..12884750,2	Hela-S3	cervix:
45	chr18:12882771..12885367-chr18:12946819..12949664,2	MCF-7	breast:
46	chr18:12774117..12776643-chr18:12883699..12885836,3	K562	blood:
47	chr14:93799102..93799681-chr18:12883778..12884317,2	NB4	blood:
48	chr17:41465688..41466201-chr18:12883855..12884365,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEH1L-5	chr18:12884514-12885555	NONHSAT058399

No data

Variant related genes	Relation type
PTPN2	TF binding region
PTPN2	CpG island
ENSG00000198373	chromatin interactions
ENSG00000197989	chromatin interactions
ENSG00000175354	chromatin interactions
ENSG00000175984	chromatin interactions
ENSG00000155903	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000177150	chromatin interactions
ENSG00000157600	chromatin interactions
ENSG00000011114	chromatin interactions
ENSG00000128789	chromatin interactions
ENSG00000137806	chromatin interactions
ENSG00000261221	chromatin interactions
ENSG00000269296	chromatin interactions
ENSG00000168490	chromatin interactions
ENSG00000115041	chromatin interactions
ENSG00000224934	chromatin interactions
ENSG00000255355	chromatin interactions
ENSG00000260302	chromatin interactions
ENSG00000174021	chromatin interactions
ENSG00000272323	chromatin interactions
ENSG00000159335	chromatin interactions
ENSG00000166889	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000200463	chromatin interactions
ENSG00000197782	chromatin interactions
ENSG00000201558	chromatin interactions
ENSG00000108773	chromatin interactions
ENSG00000101624	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000085415	chromatin interactions
ENSG00000103423	chromatin interactions
ENSG00000136051	chromatin interactions
ENSG00000262246	chromatin interactions
ENSG00000201466	chromatin interactions
ENSG00000122432	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000233396	chromatin interactions
ENSG00000133958	chromatin interactions
ENSG00000120705	chromatin interactions
ENSG00000205838	chromatin interactions

Extended variants
information (count: 129 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:129 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7238238	chr18:12883080-12883081	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550343046	chr18:12883095-12883096	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs35144771	chr18:12883118-12883119	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs528849373	chr18:12883119-12883120	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs138210016	chr18:12883214-12883215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs566102677	chr18:12883222-12883223	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs73406789	chr18:12883232-12883233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs555002881	chr18:12883281-12883282	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs55982017	chr18:12883308-12883309	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs542055032	chr18:12883373-12883374	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs557572633	chr18:12883405-12883406	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs575834460	chr18:12883492-12883493	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs370269432	chr18:12883511-12883512	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs559454254	chr18:12883518-12883519	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs546506089	chr18:12883524-12883525	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs564793612	chr18:12883540-12883541	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs537140415	chr18:12883590-12883591	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs368988415	chr18:12883619-12883620	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
19	rs540643115	chr18:12883662-12883663	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs562119907	chr18:12883666-12883667	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
21	rs143158215	chr18:12883691-12883692	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs533181391	chr18:12883711-12883712	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
23	rs9961968	chr18:12883714-12883715	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	19 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs187766871	chr18:12883720-12883721	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	19 gene(s)	Overlapped CNVs	n/a
25	rs551226070	chr18:12883727-12883728	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
26	rs373338008	chr18:12883733-12883734	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
27	rs60287618	chr18:12883743-12883744	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	21 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs80079774	chr18:12883763-12883764	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
29	rs548614227	chr18:12883776-12883777	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
30	rs9961827	chr18:12883777-12883778	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs537980929	chr18:12883779-12883780	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers	Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs557251751	chr18:12883811-12883812	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
33	rs575768978	chr18:12883857-12883858	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
34	rs568294813	chr18:12883869-12883870	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
35	rs369424277	chr18:12883870-12883871	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
36	rs546221947	chr18:12883871-12883872	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	34 gene(s)	Overlapped CNVs	n/a
37	rs397959555	chr18:12883888-12883889	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
38	rs374111299	chr18:12883907-12883908	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	35 gene(s)	Overlapped CNVs	n/a
39	rs9961931	chr18:12883939-12883940	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	37 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs558453144	chr18:12883961-12883962	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
41	rs573583275	chr18:12883972-12883973	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
42	rs376808613	chr18:12883987-12883988	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Weak transcription	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
43	rs540619242	chr18:12884010-12884011	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	40 gene(s)	Overlapped CNVs	n/a
44	rs562097155	chr18:12884015-12884016	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	41 gene(s)	Overlapped CNVs	n/a
45	rs369266593	chr18:12884027-12884028	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
46	rs201082291	chr18:12884033-12884034	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
47	rs374266832	chr18:12884037-12884038	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
48	rs376964593	chr18:12884057-12884058	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
49	rs142734599	chr18:12884078-12884079	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a
50	rs562857102	chr18:12884082-12884083	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	Chromatin interactive region	43 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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

Chromatin state (count:389 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12879600-12883200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr18:12881200-12883200	Weak transcription	Spleen	Spleen
3	chr18:12881600-12883200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr18:12882000-12883200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr18:12882000-12883200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:12882000-12883400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:12882200-12883200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:12882200-12883200	Flanking Active TSS	Osteobl	bone
9	chr18:12882200-12885000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr18:12882200-12885000	Active TSS	A549	lung
11	chr18:12882200-12885000	Active TSS	HMEC	breast
12	chr18:12882200-12885000	Active TSS	NHLF	lung
13	chr18:12882400-12883200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr18:12882400-12883200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr18:12882400-12883400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr18:12882400-12884600	Active TSS	H1 Cell Line	embryonic stem cell
17	chr18:12882400-12884600	Active TSS	Fetal Thymus	thymus
18	chr18:12882400-12885000	Active TSS	GM12878-XiMat	blood
19	chr18:12882400-12885200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr18:12882400-12885600	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr18:12882600-12883200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr18:12882600-12883200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr18:12882600-12883200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr18:12882600-12883200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr18:12882600-12883200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr18:12882600-12883200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr18:12882600-12883200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr18:12882600-12883200	Flanking Active TSS	Brain Angular Gyrus	brain
29	chr18:12882600-12883200	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr18:12882600-12883200	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr18:12882600-12883200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr18:12882600-12883200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr18:12882600-12883200	Flanking Active TSS	Fetal Brain Male	brain
34	chr18:12882600-12883200	Flanking Active TSS	Fetal Lung	lung
35	chr18:12882600-12883200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr18:12882600-12883200	Flanking Active TSS	Hela-S3	cervix
37	chr18:12882600-12883200	Flanking Active TSS	HUVEC	blood vessel
38	chr18:12882600-12883200	Flanking Active TSS	NH-A	brain
39	chr18:12882600-12883400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr18:12882600-12883400	Flanking Active TSS	Fetal Brain Female	brain
41	chr18:12882600-12883400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr18:12882600-12883800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr18:12882600-12884200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:12882600-12884600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr18:12882600-12884600	Active TSS	Muscle Satellite Cultured Cells	--
46	chr18:12882600-12884600	Active TSS	Fetal Muscle Leg	muscle
47	chr18:12882600-12884600	Active TSS	Thymus	Thymus
48	chr18:12882600-12884600	Active TSS	HSMM	muscle
49	chr18:12882600-12884800	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr18:12882600-12884800	Active TSS	Psoas Muscle	Psoas

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