Variant report

Variant	esv3424914
Chromosome Location	chr18:11980377-11982925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:689)
CpG islands
(count:610)
Chromatin interactive
region (count:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:689 , 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	chr18:11981872-11982212	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:11982059-11982245	K562	blood:	n/a	n/a
3	ARID3A	chr18:11981074-11981228	K562	blood:	n/a	n/a
4	ARID3A	chr18:11980098-11981249	HepG2	liver:	n/a	n/a
5	ARID3A	chr18:11981509-11981627	HepG2	liver:	n/a	n/a
6	ATF2	chr18:11980997-11981334	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr18:11980511-11981154	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr18:11981477-11981827	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr18:11980164-11980758	A549	lung:	n/a	n/a
10	BHLHE40	chr18:11980164-11981997	K562	blood:	n/a	chr18:11981850-11981866 chr18:11981036-11981052 chr18:11981211-11981227 chr18:11981874-11981890
11	BHLHE40	chr18:11980710-11980975	A549	lung:	n/a	n/a
12	BHLHE40	chr18:11980262-11981244	GM12878	blood:	n/a	chr18:11981036-11981052 chr18:11981211-11981227
13	BHLHE40	chr18:11980691-11981096	HepG2	liver:	n/a	chr18:11981036-11981052
14	BHLHE40	chr18:11980809-11981007	HepG2	liver:	n/a	n/a
15	BHLHE40	chr18:11980187-11982174	HepG2	liver:	n/a	chr18:11981850-11981866 chr18:11981036-11981052 chr18:11981211-11981227 chr18:11981874-11981890 chr18:11981998-11982019
16	BRCA1	chr18:11981634-11981834	HepG2	liver:	n/a	n/a
17	BRCA1	chr18:11981580-11981624	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr18:11981000-11981235	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr18:11980723-11980938	HepG2	liver:	n/a	n/a
20	BRCA1	chr18:11980153-11981274	Hela-S3	cervix:	n/a	n/a
21	BRCA1	chr18:11982270-11982505	H1-hESC	embryonic stem cell:	n/a	n/a
22	CBX3	chr18:11981363-11981705	K562	blood:	n/a	n/a
23	CBX3	chr18:11980391-11980692	K562	blood:	n/a	n/a
24	CBX3	chr18:11980201-11981327	K562	blood:	n/a	n/a
25	CCNT2	chr18:11980270-11982103	K562	blood:	n/a	chr18:11981114-11981123 chr18:11980933-11980942 chr18:11981191-11981200
26	CEBPB	chr18:11980045-11981387	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr18:11982778-11983348	A549	lung:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
28	CEBPB	chr18:11981053-11981149	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr18:11982882-11983339	H1-hESC	embryonic stem cell:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
30	CEBPB	chr18:11980227-11980554	HepG2	liver:	n/a	n/a
31	CEBPB	chr18:11982914-11983298	A549	lung:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
32	CEBPB	chr18:11982809-11983356	K562	blood:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
33	CEBPB	chr18:11981667-11983365	Hela-S3	cervix:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
34	CEBPB	chr18:11981869-11982223	HepG2	liver:	n/a	n/a
35	CEBPB	chr18:11980188-11980569	K562	blood:	n/a	n/a
36	CEBPB	chr18:11981956-11982132	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr18:11982785-11983314	K562	blood:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
38	CEBPB	chr18:11982898-11983391	MCF-7	breast:	n/a	chr18:11983140-11983153 chr18:11982932-11982945
39	CEBPB	chr18:11981970-11982107	K562	blood:	n/a	n/a
40	CEBPB	chr18:11980466-11980804	H1-hESC	embryonic stem cell:	n/a	n/a
41	CEBPD	chr18:11980588-11981293	HepG2	liver:	n/a	n/a
42	CEBPD	chr18:11981389-11981738	HepG2	liver:	n/a	n/a
43	CHD1	chr18:11981714-11982496	H1-hESC	embryonic stem cell:	n/a	chr18:11981885-11981895 chr18:11981890-11981900
44	CHD1	chr18:11980053-11980753	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr18:11981563-11981682	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr18:11980441-11980549	GM12878	blood:	n/a	n/a
47	CHD2	chr18:11980124-11981266	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr18:11982147-11982328	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD2	chr18:11980387-11981172	K562	blood:	n/a	n/a
50	CHD2	chr18:11980181-11982317	Hela-S3	cervix:	n/a	chr18:11981885-11981895 chr18:11981890-11981900

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:11981389-11981439	SKMC	muscle:	n/a
2	chr18:11981317-11981367	A549	lung:	n/a
3	chr18:11981591-11981641	NT2-D1	testis:	n/a
4	chr18:11982063-11982113	HPAEpiC	pulmonary alveolar:	n/a
5	chr18:11980981-11981031	GM12891	blood:	n/a
6	chr18:11980953-11981003	RPTEC	kidney:	n/a
7	chr18:11980981-11981031	AG09309	skin:	n/a
8	chr18:11981196-11981246	HCF	heart:	n/a
9	chr18:11980690-11980740	LNCaP	prostate:	n/a
10	chr18:11980981-11981031	HMEC	breast:	n/a
11	chr18:11980690-11980740	SK-N-SH_RA	brain:	n/a
12	chr18:11981602-11981652	HUVEC	blood vessel:	n/a
13	chr18:11982063-11982113	PrEC	prostate:	n/a
14	chr18:11981317-11981367	ovcar-3	ovarian:	n/a
15	chr18:11980981-11981031	HCF	heart:	n/a
16	chr18:11981317-11981367	HUVEC	blood vessel:	n/a
17	chr18:11982241-11982291	HEEpiC	esophagus:	n/a
18	chr18:11981196-11981246	MCF-7	breast:	n/a
19	chr18:11981602-11981652	U87	brain:	n/a
20	chr18:11982241-11982291	PANC-1	pancreas:	n/a
21	chr18:11980690-11980740	NB4	blood:	n/a
22	chr18:11982241-11982291	HNPCEpiC	eye:	n/a
23	chr18:11980953-11981003	BJ	skin:	n/a
24	chr18:11980690-11980740	GM06990	blood:	n/a
25	chr18:11982063-11982113	T-47D	breast:	n/a
26	chr18:11981317-11981367	AG04450	lung:	fetal
27	chr18:11982241-11982291	HCF	heart:	n/a
28	chr18:11982063-11982113	HepG2	liver:	n/a
29	chr18:11982063-11982113	GM12892	blood:	n/a
30	chr18:11982241-11982291	Jurkat	blood:	n/a
31	chr18:11981317-11981367	NB4	blood:	n/a
32	chr18:11980690-11980740	GM12891	blood:	n/a
33	chr18:11980953-11981003	HRCEpiC	kidney:	n/a
34	chr18:11982241-11982291	H1-hESC	embryonic stem cell:	embryo
35	chr18:11982241-11982291	GM12891	blood:	n/a
36	chr18:11982063-11982113	ProgFib	skin:	n/a
37	chr18:11981389-11981439	MCF10A-Er-Src	breast:	n/a
38	chr18:11982241-11982291	RPTEC	kidney:	n/a
39	chr18:11980953-11981003	HEEpiC	esophagus:	n/a
40	chr18:11981389-11981439	GM12878	blood:	n/a
41	chr18:11980690-11980740	HIPEpiC	eye:	n/a
42	chr18:11981196-11981246	MCF10A-Er-Src	breast:	n/a
43	chr18:11981317-11981367	HRCEpiC	kidney:	n/a
44	chr18:11980981-11981031	BJ	skin:	n/a
45	chr18:11980690-11980740	AG10803	skin:	n/a
46	chr18:11982241-11982291	AG09319	gingival:	n/a
47	chr18:11982063-11982113	PFSK-1	brain:	n/a
48	chr18:11981389-11981439	GM19239	blood:	n/a
49	chr18:11982241-11982291	U87	brain:	n/a
50	chr18:11982063-11982113	HCT-116	colon:	n/a

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:11851619..11853678-chr18:11981084..11983023,2	MCF-7	breast:
2	chr1:28832088..28833058-chr18:11980322..11980977,2	Hela-S3	cervix:
3	chr1:24285780..24286361-chr18:11980215..11981116,2	Hela-S3	cervix:
4	chr18:11905898..11908508-chr18:11980358..11982828,3	K562	blood:
5	chr12:6579509..6580224-chr18:11980779..11981594,2	Hela-S3	cervix:
6	chr18:11848574..11852252-chr18:11979272..11982648,7	K562	blood:
7	chr18:11981635..11982452-chr8:37962701..37963302,2	Hela-S3	cervix:
8	chr18:11978568..11983192-chr18:11993805..11998306,5	MCF-7	breast:
9	chr18:11945202..11946852-chr18:11982600..11984410,2	K562	blood:
10	chr18:11980301..11981116-chr8:80942163..80942686,2	Hela-S3	cervix:
11	chr18:11848937..11853647-chr18:11979272..11982109,5	K562	blood:
12	chr18:11981732..11982258-chr7:137687279..137688011,2	Hela-S3	cervix:
13	chr14:24682206..24682834-chr18:11980405..11981236,2	Hela-S3	cervix:
14	chr18:11908235..11908915-chr18:11980031..11980748,2	Hela-S3	cervix:
15	chr1:104068529..104069287-chr18:11980099..11980792,2	Hela-S3	cervix:
16	chr18:11906925..11910950-chr18:11978930..11983753,7	MCF-7	breast:
17	chr18:11977841..11980802-chr18:11983345..11984923,2	MCF-7	breast:
18	chr18:11937666..11938178-chr18:11980436..11980995,2	MCF-7	breast:
19	chr18:11907153..11910661-chr18:11980045..11982514,4	MCF-7	breast:
20	chr18:11972047..11973789-chr18:11978802..11980433,2	MCF-7	breast:
21	chr18:11906869..11908788-chr18:11979428..11982249,2	K562	blood:
22	chr18:11979171..11983679-chr18:11993501..11995734,4	MCF-7	breast:
23	chr11:65194558..65195488-chr18:11979959..11980471,2	Hela-S3	cervix:
24	chr18:11979089..11980849-chr18:12109709..12111299,2	K562	blood:
25	chr1:157107368..157108324-chr18:11981553..11982331,2	Hela-S3	cervix:
26	chr18:11979615..11982143-chr18:12376173..12378788,2	K562	blood:
27	chr18:11980686..11981570-chr3:149530416..149530989,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
IMPA2	TF binding region
IMPA2	CpG island
ENSG00000254505	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000273141	chromatin interactions
ENSG00000147586	chromatin interactions
ENSG00000139190	chromatin interactions
ENSG00000242125	chromatin interactions
ENSG00000154889	chromatin interactions
ENSG00000255112	chromatin interactions
ENSG00000180198	chromatin interactions
ENSG00000082996	chromatin interactions
ENSG00000266955	chromatin interactions
ENSG00000117036	chromatin interactions
ENSG00000254692	chromatin interactions
ENSG00000189266	chromatin interactions
ENSG00000267165	chromatin interactions
ENSG00000185946	chromatin interactions
ENSG00000129691	chromatin interactions

Extended variants
information (count: 108 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs574709652	chr18:11980393-11980394	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs138400182	chr18:11980423-11980424	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
3	rs528945802	chr18:11980438-11980439	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
4	rs550633631	chr18:11980448-11980449	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
5	rs568886156	chr18:11980455-11980456	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
6	rs971363	chr18:11980460-11980461	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs184889192	chr18:11980486-11980487	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
8	rs189034827	chr18:11980498-11980499	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs114098966	chr18:11980514-11980515	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs553954056	chr18:11980516-11980517	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs2075573	chr18:11980533-11980534	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs573796813	chr18:11980540-11980541	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs78443151	chr18:11980551-11980552	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs113672594	chr18:11980600-11980601	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs971362	chr18:11980618-11980619	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs141663425	chr18:11980638-11980639	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
17	rs7239516	chr18:11980643-11980644	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs573169802	chr18:11980660-11980661	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs540538307	chr18:11980668-11980669	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs562278155	chr18:11980669-11980670	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
21	rs529467096	chr18:11980682-11980683	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
22	rs371203395	chr18:11980728-11980729	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
23	rs550938926	chr18:11980772-11980773	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
24	rs562594539	chr18:11980778-11980779	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
25	rs532896098	chr18:11980782-11980783	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
26	rs551349245	chr18:11980789-11980790	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
27	rs566496296	chr18:11980839-11980840	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
28	rs77676680	chr18:11980867-11980868	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
29	rs549285124	chr18:11980874-11980875	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
30	rs567479302	chr18:11980891-11980892	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
31	rs538044095	chr18:11980896-11980897	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
32	rs116455921	chr18:11980907-11980908	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
33	rs375581816	chr18:11980917-11980918	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
34	rs115929460	chr18:11980920-11980921	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs557694063	chr18:11980921-11980922	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs60104639	chr18:11980961-11980962	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540258259	chr18:11981000-11981001	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs112790348	chr18:11981024-11981025	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs544092796	chr18:11981033-11981034	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs184727834	chr18:11981121-11981122	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
41	rs544750634	chr18:11981172-11981173	Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
42	rs2075824	chr18:11981208-11981209	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs369542663	chr18:11981217-11981218	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
44	rs533031827	chr18:11981249-11981250	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs551518112	chr18:11981275-11981276	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs560325279	chr18:11981331-11981332	Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs536054300	chr18:11981426-11981427	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs111410794	chr18:11981462-11981463	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs549048129	chr18:11981478-11981479	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs111610121	chr18:11981484-11981485	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	9 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	17122850	CNVD
Autism	20531469	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11964400-11980400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:11979000-11980400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:11979000-11980800	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr18:11979800-11980400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr18:11979800-11980400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr18:11979800-11980400	Enhancers	Primary B cells from peripheral blood	blood
7	chr18:11979800-11980400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr18:11979800-11980400	Enhancers	Pancreas	Pancrea
9	chr18:11979800-11980400	Flanking Active TSS	HepG2	liver
10	chr18:11979800-11980600	Flanking Active TSS	Liver	Liver
11	chr18:11979800-11980600	Enhancers	Fetal Heart	heart
12	chr18:11979800-11980600	Enhancers	Small Intestine	intestine
13	chr18:11979800-11980600	Flanking Active TSS	Hela-S3	cervix
14	chr18:11980000-11980400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr18:11980000-11980400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr18:11980000-11980400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr18:11980000-11980400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr18:11980000-11980400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr18:11980000-11980400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr18:11980000-11980400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr18:11980000-11980400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr18:11980000-11980400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:11980000-11980400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
24	chr18:11980000-11980400	Active TSS	Colonic Mucosa	Colon
25	chr18:11980000-11980400	Flanking Active TSS	HSMM	muscle
26	chr18:11980000-11980600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:11980000-11980600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr18:11980000-11980600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr18:11980000-11980600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
30	chr18:11980000-11980600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr18:11980000-11980600	Flanking Active TSS	K562	blood
32	chr18:11980000-11980600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr18:11980000-11980600	Flanking Active TSS	Osteobl	bone
34	chr18:11980000-11980800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr18:11980000-11980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr18:11980000-11980800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr18:11980000-11980800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr18:11980000-11980800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr18:11980000-11980800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr18:11980000-11980800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:11980000-11980800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr18:11980000-11980800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr18:11980000-11980800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr18:11980000-11980800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
45	chr18:11980000-11980800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr18:11980000-11980800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr18:11980000-11980800	Flanking Active TSS	GM12878-XiMat	blood
48	chr18:11980000-11980800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr18:11980000-11980800	Flanking Active TSS	NHEK	skin
50	chr18:11980000-11981000	Flanking Active TSS	Primary B cells from cord blood	blood

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