Variant report

Variant	esv3396257
Chromosome Location	chr18:9135852-9138500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:800)
CpG islands
(count:613)
Chromatin interactive
region (count:24)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:800 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:9136447-9136673	K562	blood:	n/a	n/a
2	ARID3A	chr18:9136404-9136757	HepG2	liver:	n/a	n/a
3	ARID3A	chr18:9135808-9136013	K562	blood:	n/a	n/a
4	ARID3A	chr18:9135696-9136039	HepG2	liver:	n/a	n/a
5	ATF1	chr18:9135779-9136091	K562	blood:	n/a	n/a
6	ATF2	chr18:9135590-9137096	GM12878	blood:	n/a	n/a
7	ATF2	chr18:9135793-9136174	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr18:9136107-9136415	H1-hESC	embryonic stem cell:	n/a	n/a
9	ATF3	chr18:9136442-9136940	K562	blood:	n/a	chr18:9136459-9136479
10	ATF3	chr18:9136553-9136994	HepG2	liver:	n/a	n/a
11	ATF3	chr18:9136476-9137007	GM12878	blood:	n/a	n/a
12	ATF3	chr18:9136505-9136965	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF3	chr18:9136563-9136937	HepG2	liver:	n/a	n/a
14	ATF3	chr18:9136600-9136893	GM12878	blood:	n/a	n/a
15	ATF3	chr18:9136478-9136960	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF3	chr18:9136551-9137010	K562	blood:	n/a	n/a
17	BACH1	chr18:9135875-9136745	H1-hESC	embryonic stem cell:	n/a	n/a
18	BACH1	chr18:9136277-9136688	K562	blood:	n/a	n/a
19	BCL3	chr18:9135770-9137110	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
20	BCL3	chr18:9135488-9137165	K562	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
21	BCLAF1	chr18:9137310-9138220	GM12878	blood:	n/a	chr18:9137453-9137466
22	BCLAF1	chr18:9135756-9137092	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
23	BCLAF1	chr18:9135689-9137178	GM12878	blood:	n/a	chr18:9136241-9136254 chr18:9136609-9136618 chr18:9136188-9136201 chr18:9136184-9136197
24	BCLAF1	chr18:9137319-9138210	GM12878	blood:	n/a	chr18:9137453-9137466
25	BHLHE40	chr18:9135800-9138071	K562	blood:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
26	BHLHE40	chr18:9136432-9136926	A549	lung:	n/a	chr18:9136608-9136624
27	BHLHE40	chr18:9135643-9138175	GM12878	blood:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
28	BHLHE40	chr18:9136580-9136904	HepG2	liver:	n/a	chr18:9136608-9136624
29	BHLHE40	chr18:9135799-9137881	HepG2	liver:	n/a	chr18:9137523-9137539 chr18:9137515-9137531 chr18:9136608-9136624 chr18:9137555-9137571
30	BHLHE40	chr18:9136537-9136955	HepG2	liver:	n/a	chr18:9136608-9136624
31	BRCA1	chr18:9135801-9136902	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr18:9136870-9136896	H1-hESC	embryonic stem cell:	n/a	n/a
33	BRCA1	chr18:9136430-9136663	H1-hESC	embryonic stem cell:	n/a	n/a
34	BRCA1	chr18:9136380-9136990	GM12878	blood:	n/a	n/a
35	BRCA1	chr18:9136393-9136941	HepG2	liver:	n/a	n/a
36	CBX3	chr18:9136356-9136765	K562	blood:	n/a	n/a
37	CBX3	chr18:9136222-9137195	K562	blood:	n/a	n/a
38	CCNT2	chr18:9135782-9137721	K562	blood:	n/a	n/a
39	CEBPB	chr18:9136427-9136901	Hela-S3	cervix:	n/a	chr18:9136771-9136779
40	CEBPD	chr18:9135845-9136799	HepG2	liver:	n/a	n/a
41	CEBPD	chr18:9136248-9136862	K562	blood:	n/a	n/a
42	CEBPD	chr18:9136802-9137573	HepG2	liver:	n/a	n/a
43	CHD1	chr18:9135424-9139416	IMR90	lung:	n/a	n/a
44	CHD1	chr18:9135676-9140919	GM12878	blood:	n/a	n/a
45	CHD1	chr18:9135667-9136750	H1-hESC	embryonic stem cell:	n/a	n/a
46	CHD2	chr18:9135953-9137091	K562	blood:	n/a	n/a
47	CHD2	chr18:9135893-9137967	GM12878	blood:	n/a	n/a
48	CHD2	chr18:9135774-9137456	Hela-S3	cervix:	n/a	n/a
49	CHD2	chr18:9135789-9137049	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr18:9135821-9137031	HepG2	liver:	n/a	n/a

(count:613 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9136711-9136761	ProgFib	skin:	n/a
2	chr18:9136565-9136615	NHBE	bronchial:	n/a
3	chr18:9136598-9136648	SKMC	muscle:	n/a
4	chr18:9136711-9136761	ProgFib	skin:	n/a
5	chr18:9136565-9136615	NHBE	bronchial:	n/a
6	chr18:9136598-9136648	SKMC	muscle:	n/a
7	chr18:9137021-9137071	HRPEpiC	eye:	n/a
8	chr18:9137949-9137999	HCPEpiC	choroid plexus:	n/a
9	chr18:9137949-9137999	Hepatocyte	liver:	n/a
10	chr18:9136556-9136606	GM12892	blood:	n/a
11	chr18:9136598-9136648	RPTEC	kidney:	n/a
12	chr18:9136852-9136902	Hepatocyte	liver:	n/a
13	chr18:9136711-9136761	HAEpiC	amniotic membrane:	n/a
14	chr18:9135843-9135893	IMR90	lung:	fetal
15	chr18:9136598-9136648	AG09319	gingival:	n/a
16	chr18:9137949-9137999	HNPCEpiC	eye:	n/a
17	chr18:9137021-9137071	K562	blood:	n/a
18	chr18:9136556-9136606	MCF10A-Er-Src	breast:	n/a
19	chr18:9136852-9136902	PrEC	prostate:	n/a
20	chr18:9136598-9136648	HIPEpiC	eye:	n/a
21	chr18:9136556-9136606	Caco-2	colon:	n/a
22	chr18:9136603-9136653	ovcar-3	ovarian:	n/a
23	chr18:9135843-9135893	GM12891	blood:	n/a
24	chr18:9137021-9137071	AG09309	skin:	n/a
25	chr18:9136565-9136615	SAEC	small airway:	n/a
26	chr18:9136852-9136902	NHBE	bronchial:	n/a
27	chr18:9136381-9136431	Caco-2	colon:	n/a
28	chr18:9136565-9136615	AG09319	gingival:	n/a
29	chr18:9135843-9135893	HCPEpiC	choroid plexus:	n/a
30	chr18:9136565-9136615	HCPEpiC	choroid plexus:	n/a
31	chr18:9136598-9136648	PrEC	prostate:	n/a
32	chr18:9136598-9136648	U87	brain:	n/a
33	chr18:9136565-9136615	HCM	heart:	n/a
34	chr18:9136565-9136615	Hela-S3	cervix:	n/a
35	chr18:9136852-9136902	H1-hESC	embryonic stem cell:	embryo
36	chr18:9135843-9135893	NHBE	bronchial:	n/a
37	chr18:9136598-9136648	PFSK-1	brain:	n/a
38	chr18:9137021-9137071	ovcar-3	ovarian:	n/a
39	chr18:9136565-9136615	HPAEpiC	pulmonary alveolar:	n/a
40	chr18:9136852-9136902	CMK	blood:	n/a
41	chr18:9137949-9137999	BE2_C	brain:	n/a
42	chr18:9136603-9136653	HAEpiC	amniotic membrane:	n/a
43	chr18:9136381-9136431	IMR90	lung:	fetal
44	chr18:9136381-9136431	HCPEpiC	choroid plexus:	n/a
45	chr18:9135843-9135893	HL-60	blood:	n/a
46	chr18:9136556-9136606	SK-N-SH	brain:	n/a
47	chr18:9136852-9136902	HCM	heart:	n/a
48	chr18:9136556-9136606	HEEpiC	esophagus:	n/a
49	chr18:9136381-9136431	Hela-S3	cervix:	n/a
50	chr18:9136711-9136761	Caco-2	colon:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
2	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
3	chr1:149857838..149858809-chr18:9136877..9137598,2	Hela-S3	cervix:
4	chr1:147806600..147807177-chr18:9136691..9137307,2	Hela-S3	cervix:
5	chr18:9117343..9119164-chr18:9132921..9135865,2	K562	blood:
6	chr18:9113884..9116180-chr18:9136154..9138641,4	K562	blood:
7	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
8	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
9	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
10	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
11	chr18:9136777..9139021-chr18:9215479..9217327,2	K562	blood:
12	chr18:9102609..9103201-chr18:9135838..9136592,2	MCF-7	breast:
13	chr18:9136119..9137040-chr6:30710256..30710928,2	Hela-S3	cervix:
14	chr16:69788330..69789298-chr18:9136242..9137229,2	Hela-S3	cervix:
15	chr18:9135476..9138567-chr18:9475319..9477627,4	K562	blood:
16	chr18:9137564..9140546-chr18:9188464..9190895,2	MCF-7	breast:
17	chr18:9137078..9139236-chr18:9332503..9334760,2	K562	blood:
18	chr18:9116916..9118754-chr18:9136071..9139010,3	K562	blood:
19	chr18:8704166..8706937-chr18:9136436..9139051,3	MCF-7	breast:
20	chr1:166808283..166808793-chr18:9137108..9137608,2	Hela-S3	cervix:
21	chr18:9137627..9140441-chr18:9161165..9162837,2	K562	blood:
22	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
23	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
24	chr18:9135921..9136800-chr19:1241349..1242081,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPP4R1-4	chr18:9135711-9136489	ENSG00000266053.2

No data

Variant related genes	Relation type
ENSG00000266053	TF binding region
ANKRD12	TF binding region
ENSG00000266053	CpG island
ANKRD12	CpG island
ENSG00000178127	chromatin interactions
ENSG00000264964	chromatin interactions
ENSG00000137312	chromatin interactions
ENSG00000099624	chromatin interactions
ENSG00000206418	chromatin interactions
ENSG00000265257	chromatin interactions
ENSG00000272273	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000263847	chromatin interactions
ENSG00000141101	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000143157	chromatin interactions
ENSG00000101745	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000242058	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000168502	chromatin interactions

Extended variants
information (count: 119 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567394050	chr18:9135855-9135856	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs186747210	chr18:9135863-9135864	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs568502910	chr18:9135876-9135877	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs9952006	chr18:9135887-9135888	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371084252	chr18:9135919-9135920	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs560355745	chr18:9135933-9135934	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
7	rs554032556	chr18:9135949-9135950	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
8	rs138980269	chr18:9135953-9135954	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
9	rs550536784	chr18:9135960-9135961	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
10	rs142881859	chr18:9136024-9136025	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
11	rs72935236	chr18:9136032-9136033	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs539460701	chr18:9136038-9136039	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs543951839	chr18:9136041-9136042	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs374135779	chr18:9136054-9136055	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs193262143	chr18:9136076-9136077	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs386801021	chr18:9136112-9136113	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs113567385	chr18:9136114-9136115	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
18	rs143593629	chr18:9136115-9136116	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
19	rs551355334	chr18:9136117-9136118	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
20	rs560192979	chr18:9136132-9136133	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs8095601	chr18:9136155-9136156	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs549274233	chr18:9136158-9136159	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs566657441	chr18:9136169-9136170	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs370678230	chr18:9136213-9136214	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs538069406	chr18:9136214-9136215	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs12969099	chr18:9136232-9136233	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs116770928	chr18:9136248-9136249	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
28	rs538754219	chr18:9136260-9136261	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
29	rs553724838	chr18:9136304-9136305	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
30	rs572126091	chr18:9136312-9136313	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
31	rs75752438	chr18:9136322-9136323	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
32	rs183648324	chr18:9136353-9136354	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
33	rs555272951	chr18:9136361-9136362	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
34	rs576560047	chr18:9136444-9136445	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs74722490	chr18:9136446-9136447	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
36	rs555312794	chr18:9136514-9136515	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
37	rs565489410	chr18:9136568-9136569	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
38	rs577765643	chr18:9136571-9136572	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	rs545146907	chr18:9136604-9136605	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs28362522	chr18:9136635-9136636	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs188740148	chr18:9136670-9136671	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs55945950	chr18:9136674-9136675	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs113062335	chr18:9136677-9136678	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs548982229	chr18:9136679-9136680	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs377461459	chr18:9136683-9136684	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs371231586	chr18:9136717-9136718	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs561280529	chr18:9136744-9136745	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs56306258	chr18:9136756-9136757	Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs531393469	chr18:9136797-9136798	Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
50	rs549522113	chr18:9136819-9136820	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
Melanoma	18172304	CNVD
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
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
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9133400-9136000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr18:9134800-9137800	Active TSS	Fetal Brain Female	brain
3	chr18:9135000-9136000	Transcr. at gene 5' and 3'	K562	blood
4	chr18:9135000-9136200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
5	chr18:9135000-9136200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr18:9135000-9139200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr18:9135200-9136000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr18:9135200-9136000	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr18:9135200-9136000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
10	chr18:9135200-9136000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr18:9135200-9136000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr18:9135200-9136200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:9135200-9136200	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr18:9135200-9136200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
15	chr18:9135200-9136400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr18:9135200-9137000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
17	chr18:9135200-9137800	Active TSS	H9 Cell Line	embryonic stem cell
18	chr18:9135200-9138000	Active TSS	H1 Cell Line	embryonic stem cell
19	chr18:9135200-9138200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:9135200-9138200	Active TSS	Spleen	Spleen
21	chr18:9135200-9138400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr18:9135200-9138400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr18:9135400-9136000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr18:9135400-9136000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr18:9135400-9136000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr18:9135400-9136000	Flanking Active TSS	Liver	Liver
27	chr18:9135400-9136000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr18:9135400-9136000	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
29	chr18:9135400-9136200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr18:9135400-9136200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr18:9135400-9136200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr18:9135400-9136400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr18:9135400-9136400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr18:9135400-9136400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9135400-9136400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr18:9135400-9138000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr18:9135400-9138200	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr18:9135400-9139000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr18:9135400-9140200	Active TSS	Psoas Muscle	Psoas
40	chr18:9135600-9136000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:9135600-9136000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr18:9135600-9136000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr18:9135600-9136000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr18:9135600-9136000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr18:9135600-9136000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:9135600-9136000	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr18:9135600-9136000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr18:9135600-9136000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
49	chr18:9135600-9136000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:9135600-9136000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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