Variant report

Variant	esv3424405
Chromosome Location	chr18:12911202-12913700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:42)
CpG islands
(count:366)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:42 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:12911520-12911670	HCM	heart:	n/a	n/a
2	CTCF	chr18:12911300-12911450	HBMEC	blood vessel:	n/a	n/a
3	CTCF	chr18:12911460-12911610	NHDF-neo	bronchial:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
4	CTCF	chr18:12911440-12911590	GM12871	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
5	CTCF	chr18:12911420-12911570	GM12872	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
6	CTCF	chr18:12911400-12911550	HBMEC	blood vessel:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
7	CTCF	chr18:12911440-12911590	GM12874	blood:	n/a	chr18:12911487-12911496 chr18:12911483-12911496
8	CTCF	chr18:12911240-12911390	GM12867	blood:	n/a	n/a
9	E2F6	chr18:12912078-12912646	H1-hESC	embryonic stem cell:	n/a	chr18:12912214-12912223
10	E2F6	chr18:12911488-12912542	H1-hESC	embryonic stem cell:	n/a	chr18:12912214-12912223
11	EGR1	chr18:12910987-12911230	GM12878	blood:	n/a	chr18:12911105-12911119 chr18:12911123-12911137
12	ELF1	chr18:12910919-12911348	GM12878	blood:	n/a	n/a
13	HMGN3	chr18:12911341-12911428	K562	blood:	n/a	n/a
14	KAP1	chr18:12913612-12914251	K562	blood:	n/a	n/a
15	MAX	chr18:12911151-12911289	GM12878	blood:	n/a	chr18:12911189-12911198
16	MAX	chr18:12911576-12912058	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr18:12911551-12912600	H1-hESC	embryonic stem cell:	n/a	chr18:12912320-12912329
18	MAX	chr18:12912161-12912598	H1-hESC	embryonic stem cell:	n/a	chr18:12912320-12912329
19	MAZ	chr18:12911013-12911262	GM12878	blood:	n/a	chr18:12911189-12911198
20	MAZ	chr18:12911024-12911219	HepG2	liver:	n/a	chr18:12911189-12911198
21	MYC	chr18:12911306-12911324	GM12878	blood:	n/a	n/a
22	MYC	chr18:12911166-12911217	GM12878	blood:	n/a	chr18:12911189-12911198
23	MYC	chr18:12911235-12911249	GM12878	blood:	n/a	n/a
24	MYC	chr18:12911339-12911363	GM12878	blood:	n/a	n/a
25	PAX5	chr18:12911088-12911402	GM12878	blood:	n/a	n/a
26	PAX5	chr18:12910986-12911498	GM12878	blood:	n/a	n/a
27	PAX5	chr18:12911054-12911359	GM12892	blood:	n/a	n/a
28	POLR2A	chr18:12913361-12913508	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr18:12913409-12913547	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr18:12913477-12913614	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr18:12913421-12913583	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr18:12913474-12913637	K562	blood:	n/a	n/a
33	POLR2A	chr18:12913425-12913592	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr18:12911950-12911958	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr18:12913344-12913528	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr18:12913396-12913549	GM12878	blood:	n/a	n/a
37	SIN3A	chr18:12911653-12911762	H1-hESC	embryonic stem cell:	n/a	n/a
38	SPI1	chr18:12911015-12911254	GM12891	blood:	n/a	n/a
39	TBL1XR1	chr18:12911201-12911338	GM12878	blood:	n/a	n/a
40	YY1	chr18:12911056-12911339	HepG2	liver:	n/a	chr18:12911183-12911197 chr18:12911180-12911194
41	ZNF143	chr18:12911328-12911361	H1-hESC	embryonic stem cell:	n/a	n/a
42	ZNF143	chr18:12911172-12911256	GM12878	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:12912703-12912753	SK-N-SH_RA	brain:	n/a
2	chr18:12911711-12911761	GM06990	blood:	n/a
3	chr18:12912703-12912753	U87	brain:	n/a
4	chr18:12911359-12911409	HCT-116	colon:	n/a
5	chr18:12911359-12911409	AG04450	lung:	fetal
6	chr18:12913133-12913183	IMR90	lung:	fetal
7	chr18:12911359-12911409	HAEpiC	amniotic membrane:	n/a
8	chr18:12913133-12913183	HEEpiC	esophagus:	n/a
9	chr18:12911359-12911409	LNCaP	prostate:	n/a
10	chr18:12912338-12912388	HCPEpiC	choroid plexus:	n/a
11	chr18:12912703-12912753	Jurkat	blood:	n/a
12	chr18:12912338-12912388	HL-60	blood:	n/a
13	chr18:12913133-12913183	SAEC	small airway:	n/a
14	chr18:12911711-12911761	K562	blood:	n/a
15	chr18:12911359-12911409	NHDF-neo	bronchial:	n/a
16	chr18:12911359-12911409	K562	blood:	n/a
17	chr18:12911711-12911761	ovcar-3	ovarian:	n/a
18	chr18:12912338-12912388	GM19239	blood:	n/a
19	chr18:12911359-12911409	H1-hESC	embryonic stem cell:	embryo
20	chr18:12912338-12912388	GM06990	blood:	n/a
21	chr18:12911711-12911761	HL-60	blood:	n/a
22	chr18:12913133-12913183	CMK	blood:	n/a
23	chr18:12911359-12911409	GM19239	blood:	n/a
24	chr18:12912338-12912388	GM12878	blood:	n/a
25	chr18:12911359-12911409	U87	brain:	n/a
26	chr18:12912338-12912388	Hepatocyte	liver:	n/a
27	chr18:12912703-12912753	GM12892	blood:	n/a
28	chr18:12912338-12912388	U87	brain:	n/a
29	chr18:12913133-12913183	RPTEC	kidney:	n/a
30	chr18:12911711-12911761	SAEC	small airway:	n/a
31	chr18:12911528-12911578	MCF10A-Er-Src	breast:	n/a
32	chr18:12913133-12913183	ECC-1	luminal epithelium:	n/a
33	chr18:12911711-12911761	MCF-7	breast:	n/a
34	chr18:12913133-12913183	HCF	heart:	n/a
35	chr18:12911528-12911578	Jurkat	blood:	n/a
36	chr18:12911359-12911409	AoSMC	blood vessel:	n/a
37	chr18:12913133-12913183	HCM	heart:	n/a
38	chr18:12911711-12911761	AG04449	skin:	fetal
39	chr18:12911359-12911409	AG09309	skin:	n/a
40	chr18:12911528-12911578	SK-N-MC	brain:	n/a
41	chr18:12912703-12912753	GM12891	blood:	n/a
42	chr18:12912338-12912388	ECC-1	luminal epithelium:	n/a
43	chr18:12912703-12912753	HCF	heart:	n/a
44	chr18:12913133-12913183	HPAEpiC	pulmonary alveolar:	n/a
45	chr18:12911528-12911578	HAEpiC	amniotic membrane:	n/a
46	chr18:12911359-12911409	ECC-1	luminal epithelium:	n/a
47	chr18:12912703-12912753	LNCaP	prostate:	n/a
48	chr18:12911528-12911578	AoSMC	blood vessel:	n/a
49	chr18:12912338-12912388	Jurkat	blood:	n/a
50	chr18:12912338-12912388	HNPCEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:
2	chr18:12908308..12911481-chr18:12911721..12914247,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEH1L-3	chr18:12912843-12913905	NONHSAT058402

No data

Variant related genes	Relation type
ENSG00000267336	TF binding region
ENSG00000267336	CpG island
ENSG00000267570	chromatin interactions
ENSG00000267336	chromatin interactions

Extended variants
information (count: 91 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180960550	chr18:12911206-12911207	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs544196054	chr18:12911266-12911267	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs556097648	chr18:12911276-12911277	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs139941373	chr18:12911313-12911314	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs545085777	chr18:12911338-12911339	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs568846265	chr18:12911361-12911362	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs386801384	chr18:12911365-12911366	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs74646701	chr18:12911366-12911367	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs148131657	chr18:12911394-12911395	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs114946152	chr18:12911396-12911397	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs186366124	chr18:12911398-12911399	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs142805382	chr18:12911415-12911416	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs551010404	chr18:12911418-12911419	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4797717	chr18:12911423-12911424	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73416984	chr18:12911448-12911449	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs191323563	chr18:12911490-12911491	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs34568924	chr18:12911503-12911504	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs8094285	chr18:12911504-12911505	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs151035905	chr18:12911556-12911557	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
20	rs114703514	chr18:12911561-12911562	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
21	rs372762763	chr18:12911570-12911571	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
22	rs538099637	chr18:12911576-12911577	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
23	rs576617656	chr18:12911597-12911598	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs556195024	chr18:12911614-12911615	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs577705515	chr18:12911679-12911680	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs571678415	chr18:12911768-12911769	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs553878870	chr18:12911770-12911771	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs572202479	chr18:12911840-12911841	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs542757660	chr18:12911874-12911875	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562279149	chr18:12911949-12911950	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574154778	chr18:12911959-12911960	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544848098	chr18:12911985-12911986	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs563078623	chr18:12912003-12912004	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs551395771	chr18:12912024-12912025	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs529589329	chr18:12912025-12912026	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs113749368	chr18:12912029-12912030	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs560129750	chr18:12912088-12912089	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1983424	chr18:12912092-12912093	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs549214454	chr18:12912096-12912097	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs368830911	chr18:12912098-12912099	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs567415968	chr18:12912108-12912109	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550930716	chr18:12912196-12912197	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs113947185	chr18:12912197-12912198	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs537687434	chr18:12912254-12912255	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs550049882	chr18:12912343-12912344	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs372285351	chr18:12912359-12912360	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs538620510	chr18:12912395-12912396	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs112599141	chr18:12912411-12912412	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs553766342	chr18:12912423-12912424	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs149847870	chr18:12912437-12912438	Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region Chromatin interactive region	2 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:187 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12907600-12913600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:12910800-12911600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr18:12910800-12911600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr18:12910800-12911600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr18:12910800-12911800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr18:12910800-12911800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr18:12910800-12911800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr18:12910800-12911800	Bivalent Enhancer	Stomach Mucosa	stomach
9	chr18:12910800-12912000	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr18:12910800-12912200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr18:12911000-12911400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr18:12911000-12911400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr18:12911000-12911400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr18:12911000-12911400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr18:12911000-12911400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:12911000-12911400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
17	chr18:12911000-12911400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
18	chr18:12911000-12911400	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
19	chr18:12911000-12911400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
20	chr18:12911000-12911400	Active TSS	Thymus	Thymus
21	chr18:12911000-12911400	Active TSS	HepG2	liver
22	chr18:12911000-12911400	Flanking Bivalent TSS/Enh	HMEC	breast
23	chr18:12911000-12911400	Active TSS	HSMM	muscle
24	chr18:12911000-12911600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr18:12911000-12911600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr18:12911000-12911600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:12911000-12911600	Flanking Active TSS	Fetal Thymus	thymus
28	chr18:12911000-12911600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
29	chr18:12911000-12911800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr18:12911000-12911800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
31	chr18:12911000-12911800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr18:12911000-12911800	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
33	chr18:12911000-12911800	Bivalent/Poised TSS	Psoas Muscle	Psoas
34	chr18:12911000-12911800	Active TSS	Right Atrium	heart
35	chr18:12911000-12912000	Active TSS	Primary T cells from cord blood	blood
36	chr18:12911000-12912000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:12911000-12912000	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
38	chr18:12911000-12912000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
39	chr18:12911000-12912200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr18:12911000-12912200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
42	chr18:12911000-12912200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
43	chr18:12911000-12912200	Bivalent Enhancer	Fetal Brain Male	brain
44	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
45	chr18:12911000-12912400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr18:12911000-12912400	Flanking Active TSS	Right Ventricle	heart
47	chr18:12911200-12911400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr18:12911200-12911400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr18:12911200-12911400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr18:12911200-12911400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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