Variant report

Variant	esv3389407
Chromosome Location	chr18:9613377-9615925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:578)
CpG islands
(count:306)
Chromatin interactive
region (count:27)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:578 , 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	chr18:9613528-9613697	HepG2	liver:	n/a	n/a
2	ARID3A	chr18:9615316-9615343	K562	blood:	n/a	n/a
3	BACH1	chr18:9613850-9614215	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr18:9615794-9615952	K562	blood:	n/a	n/a
5	BACH1	chr18:9614924-9615365	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCLAF1	chr18:9613533-9614307	GM12878	blood:	n/a	chr18:9613942-9613955
7	BCLAF1	chr18:9614980-9615345	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:9614571-9614942	GM12878	blood:	n/a	chr18:9614847-9614863 chr18:9614823-9614839
9	BHLHE40	chr18:9615211-9615252	K562	blood:	n/a	n/a
10	BHLHE40	chr18:9615193-9615231	GM12878	blood:	n/a	n/a
11	BRCA1	chr18:9615220-9615258	HepG2	liver:	n/a	n/a
12	BRCA1	chr18:9613818-9614166	Hela-S3	cervix:	n/a	n/a
13	CBX3	chr18:9615013-9615553	K562	blood:	n/a	n/a
14	CCNT2	chr18:9613769-9615322	K562	blood:	n/a	chr18:9615058-9615067 chr18:9615031-9615040
15	CEBPB	chr18:9614898-9615080	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr18:9614962-9614975	HepG2	liver:	n/a	n/a
17	CEBPD	chr18:9614302-9615025	HepG2	liver:	n/a	n/a
18	CHD1	chr18:9613882-9614078	GM12878	blood:	n/a	n/a
19	CHD1	chr18:9613825-9614260	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD1	chr18:9614808-9615019	H1-hESC	embryonic stem cell:	n/a	n/a
21	CHD1	chr18:9613206-9613379	GM12878	blood:	n/a	n/a
22	CHD2	chr18:9614528-9614562	HepG2	liver:	n/a	n/a
23	CHD2	chr18:9614524-9615426	Hela-S3	cervix:	n/a	n/a
24	CHD2	chr18:9613717-9614147	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr18:9613863-9614191	K562	blood:	n/a	n/a
26	CHD2	chr18:9613860-9614298	HepG2	liver:	n/a	n/a
27	CHD2	chr18:9615158-9615326	H1-hESC	embryonic stem cell:	n/a	n/a
28	CHD2	chr18:9613665-9614293	Hela-S3	cervix:	n/a	n/a
29	CHD2	chr18:9614986-9615168	GM12878	blood:	n/a	n/a
30	CHD2	chr18:9613874-9614211	GM12878	blood:	n/a	n/a
31	CREB1	chr18:9613816-9614222	A549	lung:	n/a	n/a
32	CREB1	chr18:9614691-9615008	A549	lung:	n/a	n/a
33	CTCF	chr18:9614020-9614170	GM12867	blood:	n/a	chr18:9614097-9614110
34	CTCF	chr18:9614080-9614230	AG04450	lung:	n/a	chr18:9614097-9614110
35	CTCF	chr18:9614140-9614290	HBMEC	blood vessel:	n/a	n/a
36	CTCF	chr18:9613560-9613710	AG10803	skin:	n/a	n/a
37	CTCF	chr18:9613980-9614130	GM12865	blood:	n/a	chr18:9614097-9614110
38	CTCF	chr18:9613980-9614130	SK-N-SH_RA	brain:	n/a	chr18:9614097-9614110
39	CTCF	chr18:9613960-9614110	GM12878	blood:	n/a	chr18:9614097-9614110
40	CTCF	chr18:9613760-9613910	Hela-S3	cervix:	n/a	n/a
41	CTCF	chr18:9614564-9614580	GM12878	blood:	n/a	n/a
42	CTCF	chr18:9613919-9614233	GM12878	blood:	n/a	chr18:9614097-9614110
43	CTCF	chr18:9614010-9614149	A549	lung:	n/a	chr18:9614097-9614110
44	CTCF	chr18:9613980-9614130	GM12872	blood:	n/a	chr18:9614097-9614110
45	CTCF	chr18:9613980-9614130	WERI-Rb-1	eye:	n/a	chr18:9614097-9614110
46	CTCF	chr18:9614160-9614310	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr18:9614020-9614170	AG09319	gingival:	n/a	chr18:9614097-9614110
48	CTCF	chr18:9614000-9614150	GM12866	blood:	n/a	chr18:9614097-9614110
49	CTCF	chr18:9613800-9613950	NHEK	skin:	n/a	n/a
50	CTCF	chr18:9613977-9614204	GM12892	blood:	n/a	chr18:9614097-9614110

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr18:9614206-9614256	Hepatocyte	liver:	n/a
2	chr18:9614206-9614256	Hepatocyte	liver:	n/a
3	chr18:9615155-9615205	HCM	heart:	n/a
4	chr18:9614450-9614500	HMEC	breast:	n/a
5	chr18:9615155-9615205	HIPEpiC	eye:	n/a
6	chr18:9615093-9615143	HCT-116	colon:	n/a
7	chr18:9614450-9614500	GM12878	blood:	n/a
8	chr18:9615093-9615143	HCM	heart:	n/a
9	chr18:9615155-9615205	MCF-7	breast:	n/a
10	chr18:9615093-9615143	GM12878	blood:	n/a
11	chr18:9614450-9614500	MCF10A-Er-Src	breast:	n/a
12	chr18:9614206-9614256	H1-hESC	embryonic stem cell:	embryo
13	chr18:9615209-9615259	HRPEpiC	eye:	n/a
14	chr18:9615155-9615205	MCF10A-Er-Src	breast:	n/a
15	chr18:9615093-9615143	ECC-1	luminal epithelium:	n/a
16	chr18:9615093-9615143	ovcar-3	ovarian:	n/a
17	chr18:9615093-9615143	Hepatocyte	liver:	n/a
18	chr18:9615093-9615143	IMR90	lung:	fetal
19	chr18:9614450-9614500	ECC-1	luminal epithelium:	n/a
20	chr18:9615093-9615143	NH-A	brain:	n/a
21	chr18:9614450-9614500	BE2_C	brain:	n/a
22	chr18:9614206-9614256	SK-N-MC	brain:	n/a
23	chr18:9615209-9615259	HCF	heart:	n/a
24	chr18:9614450-9614500	H1-hESC	embryonic stem cell:	embryo
25	chr18:9614206-9614256	GM12891	blood:	n/a
26	chr18:9614450-9614500	AoSMC	blood vessel:	n/a
27	chr18:9614206-9614256	GM19239	blood:	n/a
28	chr18:9615093-9615143	BE2_C	brain:	n/a
29	chr18:9614206-9614256	NT2-D1	testis:	n/a
30	chr18:9615093-9615143	PrEC	prostate:	n/a
31	chr18:9615155-9615205	HRCEpiC	kidney:	n/a
32	chr18:9615155-9615205	AG10803	skin:	n/a
33	chr18:9614206-9614256	AG09309	skin:	n/a
34	chr18:9614206-9614256	AG10803	skin:	n/a
35	chr18:9614450-9614500	CMK	blood:	n/a
36	chr18:9614206-9614256	AG04450	lung:	fetal
37	chr18:9615209-9615259	SK-N-SH_RA	brain:	n/a
38	chr18:9615155-9615205	GM12878	blood:	n/a
39	chr18:9615209-9615259	GM12891	blood:	n/a
40	chr18:9615155-9615205	IMR90	lung:	fetal
41	chr18:9615155-9615205	GM12892	blood:	n/a
42	chr18:9614206-9614256	GM12878	blood:	n/a
43	chr18:9614450-9614500	HPAEpiC	pulmonary alveolar:	n/a
44	chr18:9614206-9614256	HRCEpiC	kidney:	n/a
45	chr18:9614206-9614256	SK-N-SH_RA	brain:	n/a
46	chr18:9614450-9614500	Jurkat	blood:	n/a
47	chr18:9614206-9614256	NHBE	bronchial:	n/a
48	chr18:9615209-9615259	Caco-2	colon:	n/a
49	chr18:9614450-9614500	AG09309	skin:	n/a
50	chr18:9615093-9615143	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr18:9612136..9615353-chr18:9912435..9915971,5	MCF-7	breast:
2	chr18:9613045..9616469-chr18:9913547..9915707,4	K562	blood:
3	chr18:9613618..9614587-chr22:31686737..31687476,2	Hela-S3	cervix:
4	chr18:9584254..9588034-chr18:9613364..9615601,3	MCF-7	breast:
5	chr18:9612544..9617098-chr18:9708301..9712595,6	MCF-7	breast:
6	chr18:9615576..9617257-chr18:9706860..9708949,2	K562	blood:
7	chr1:28974882..28975858-chr18:9614139..9614753,2	Hela-S3	cervix:
8	chr18:9614624..9617257-chr18:9707449..9709089,2	K562	blood:
9	chr18:9596087..9600746-chr18:9613522..9617540,6	MCF-7	breast:
10	chr18:9474922..9476536-chr18:9613527..9616238,2	MCF-7	breast:
11	chr18:9613570..9616156-chr18:9878427..9881071,2	K562	blood:
12	chr18:9615456..9617526-chr18:9895448..9898198,2	K562	blood:
13	chr18:9612064..9613483-chr18:9661140..9662203,5	MCF-7	breast:
14	chr15:66994774..66995660-chr18:9613961..9614955,2	Hela-S3	cervix:
15	chr18:9614482..9616420-chr18:9617986..9621274,5	K562	blood:
16	chr17:57970172..57971882-chr18:9614484..9616129,2	MCF-7	breast:
17	chr18:9613003..9613557-chr7:100026358..100026919,2	Hela-S3	cervix:
18	chr18:9612893..9615735-chr18:9913834..9918265,4	K562	blood:
19	chr18:9593651..9596050-chr18:9613258..9616024,2	MCF-7	breast:
20	chr18:9614430..9615143-chr19:1249294..1250146,2	Hela-S3	cervix:
21	chr18:9615287..9617165-chr18:9631128..9633561,2	K562	blood:
22	chr18:9613016..9616228-chr18:9911513..9913644,4	K562	blood:
23	chr18:9614922..9615897-chrX:48815132..48816087,2	Hela-S3	cervix:
24	chr18:9614449..9616140-chr18:9677968..9679576,2	K562	blood:
25	chr18:9594858..9597558-chr18:9614248..9616397,2	MCF-7	breast:
26	chr18:9569658..9574401-chr18:9612462..9616455,5	K562	blood:
27	chr18:9611182..9615699-chr18:9705314..9711194,13	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RALBP1-2	chr18:9614694-9615333	NONHSAT057230
2	lnc-RALBP1-2	chr18:9615262-9615333	ENSG00000263627.1
3	lnc-PIEZO2-14	chr18:9614224-9614272	NONHSAT057228
4	lnc-RALBP1-2	chr18:9615186-9616194	NONHSAT057231

No data

Variant related genes	Relation type
ENSG00000263627	TF binding region
PPP4R1	TF binding region
ENSG00000263627	CpG island
PPP4R1	CpG island
ENSG00000266541	chromatin interactions
ENSG00000100100	chromatin interactions
ENSG00000167470	chromatin interactions
ENSG00000108423	chromatin interactions
ENSG00000272799	chromatin interactions
ENSG00000212572	chromatin interactions
ENSG00000017797	chromatin interactions
ENSG00000137834	chromatin interactions
ENSG00000265564	chromatin interactions
ENSG00000108443	chromatin interactions
ENSG00000168461	chromatin interactions
ENSG00000101558	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000154845	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000264644	chromatin interactions
ENSG00000068308	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545129278	chr18:9613423-9613424	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs78984035	chr18:9613441-9613442	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
3	rs572319838	chr18:9613482-9613483	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs12373226	chr18:9613501-9613502	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs34980633	chr18:9613547-9613548	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
6	rs184380864	chr18:9613563-9613564	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs34127820	chr18:9613564-9613565	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs145628254	chr18:9613566-9613567	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs531982927	chr18:9613598-9613599	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs145281679	chr18:9613609-9613610	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs188037878	chr18:9613614-9613615	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs201224551	chr18:9613638-9613639	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs202036875	chr18:9613640-9613641	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs397787811	chr18:9613641-9613642	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs398031965	chr18:9613642-9613643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs565288074	chr18:9613663-9613664	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs149163515	chr18:9613667-9613668	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs551163298	chr18:9613742-9613743	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs566491571	chr18:9613762-9613763	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs527278123	chr18:9613773-9613774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs548909430	chr18:9613776-9613777	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs567222301	chr18:9613803-9613804	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs537701924	chr18:9613874-9613875	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs555948355	chr18:9613884-9613885	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs571318410	chr18:9613971-9613972	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs539143070	chr18:9613981-9613982	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs375163969	chr18:9614017-9614018	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs572437532	chr18:9614035-9614036	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs543033488	chr18:9614072-9614073	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs71360847	chr18:9614096-9614097	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs370789850	chr18:9614122-9614123	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs373387694	chr18:9614200-9614201	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs377081511	chr18:9614206-9614207	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs368991458	chr18:9614298-9614299	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs28461902	chr18:9614332-9614333	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs532576735	chr18:9614333-9614334	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs199537124	chr18:9614594-9614595	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
38	rs545123424	chr18:9614707-9614708	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
39	rs77036092	chr18:9614730-9614731	Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
40	rs143264046	chr18:9614885-9614886	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
41	rs527335206	chr18:9614887-9614888	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
42	rs184540458	chr18:9614970-9614971	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
43	rs566883915	chr18:9614982-9614983	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
44	rs531515644	chr18:9615034-9615035	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
45	rs549776851	chr18:9615105-9615106	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
46	rs62088910	chr18:9615145-9615146	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs538437872	chr18:9615163-9615164	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
48	rs554282552	chr18:9615169-9615170	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
49	rs576648325	chr18:9615181-9615182	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
50	rs566175065	chr18:9615215-9615216	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Lung cancer	18438408	CNVD

Chromatin state (count:462 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9553800-9613600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr18:9594200-9613600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:9607200-9613400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr18:9608200-9613600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr18:9609400-9613600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr18:9609600-9613400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr18:9611200-9613400	Weak transcription	Pancreas	Pancrea
8	chr18:9611400-9613400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr18:9611400-9613600	Weak transcription	Lung	lung
10	chr18:9611600-9613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr18:9611600-9613400	Weak transcription	Psoas Muscle	Psoas
12	chr18:9611600-9613600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr18:9611600-9613600	Weak transcription	Gastric	stomach
14	chr18:9611600-9613800	Weak transcription	Spleen	Spleen
15	chr18:9611800-9613400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr18:9611800-9613400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr18:9612000-9613400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr18:9612000-9613600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr18:9612000-9615000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr18:9612200-9613400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr18:9612200-9613400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr18:9612200-9613400	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr18:9612200-9613400	Enhancers	Liver	Liver
24	chr18:9612200-9613400	Flanking Active TSS	Brain Germinal Matrix	brain
25	chr18:9612200-9613400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr18:9612200-9613400	Flanking Active TSS	GM12878-XiMat	blood
27	chr18:9612200-9613400	Flanking Active TSS	Hela-S3	cervix
28	chr18:9612200-9613400	Flanking Active TSS	HUVEC	blood vessel
29	chr18:9612200-9613600	Enhancers	Primary B cells from peripheral blood	blood
30	chr18:9612200-9615200	Active TSS	NHLF	lung
31	chr18:9612400-9613400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:9612400-9613400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr18:9612400-9613400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr18:9612400-9613400	Flanking Active TSS	Brain Anterior Caudate	brain
35	chr18:9612400-9613400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr18:9612400-9613400	Flanking Active TSS	Osteobl	bone
37	chr18:9612400-9613600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr18:9612400-9613600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr18:9612400-9613600	Flanking Active TSS	Dnd41	blood
40	chr18:9612400-9613600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr18:9612400-9613800	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr18:9612400-9613800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr18:9612400-9614800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr18:9612400-9615200	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr18:9612400-9615200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr18:9612400-9615200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:9612400-9615400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr18:9612400-9615800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr18:9612600-9613400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr18:9612600-9613400	Weak transcription	Esophagus	oesophagus

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