Variant report

Variant	nsv948914
Chromosome Location	chr9:1050981-1311310
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:889)
CpG islands
(count:428)
Chromatin interactive
region (count:53)
LncRNA
region (count:25)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:889 , 50 per page) page: 1 2 3 4 5 6 7 ... 18

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:1262535-1262860	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:1232418-1233152	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:1165172-1165199	HepG2	liver:	n/a	n/a
4	ATF2	chr9:1267069-1267434	GM12878	blood:	n/a	n/a
5	ATF2	chr9:1273849-1274227	GM12878	blood:	n/a	n/a
6	ATF2	chr9:1267004-1267465	GM12878	blood:	n/a	n/a
7	BACH1	chr9:1051968-1052204	H1-hESC	embryonic stem cell:	n/a	n/a
8	BATF	chr9:1232670-1232943	GM12878	blood:	n/a	n/a
9	BATF	chr9:1273755-1274200	GM12878	blood:	n/a	chr9:1274007-1274018
10	BATF	chr9:1267065-1267439	GM12878	blood:	n/a	n/a
11	BATF	chr9:1267089-1267384	GM12878	blood:	n/a	n/a
12	BCL11A	chr9:1271872-1272106	GM12878	blood:	n/a	n/a
13	BCL11A	chr9:1267051-1267422	GM12878	blood:	n/a	n/a
14	BCL11A	chr9:1267058-1267389	GM12878	blood:	n/a	n/a
15	BCL11A	chr9:1273784-1274155	GM12878	blood:	n/a	n/a
16	BCL11A	chr9:1273798-1274241	GM12878	blood:	n/a	n/a
17	BCLAF1	chr9:1267023-1267355	GM12878	blood:	n/a	n/a
18	BHLHE40	chr9:1157837-1158199	GM12878	blood:	n/a	n/a
19	BHLHE40	chr9:1273916-1274170	GM12878	blood:	n/a	n/a
20	BHLHE40	chr9:1269746-1270488	GM12878	blood:	n/a	n/a
21	BHLHE40	chr9:1267079-1267545	GM12878	blood:	n/a	n/a
22	BHLHE40	chr9:1051946-1052195	GM12878	blood:	n/a	n/a
23	BHLHE40	chr9:1184742-1184955	GM12878	blood:	n/a	n/a
24	BHLHE40	chr9:1271859-1272122	GM12878	blood:	n/a	n/a
25	BHLHE40	chr9:1270807-1271031	GM12878	blood:	n/a	n/a
26	BHLHE40	chr9:1096310-1096565	GM12878	blood:	n/a	n/a
27	CEBPB	chr9:1087170-1087530	HepG2	liver:	n/a	chr9:1087352-1087363
28	CEBPB	chr9:1200905-1201341	HepG2	liver:	n/a	n/a
29	CEBPB	chr9:1232585-1232851	A549	lung:	n/a	chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816
30	CEBPB	chr9:1233604-1233963	HepG2	liver:	n/a	n/a
31	CEBPB	chr9:1115880-1116108	HepG2	liver:	n/a	chr9:1116009-1116020
32	CEBPB	chr9:1198107-1198494	ECC-1	luminal epithelium:	n/a	n/a
33	CEBPB	chr9:1263039-1263079	HepG2	liver:	n/a	n/a
34	CEBPB	chr9:1055239-1055450	A549	lung:	n/a	n/a
35	CEBPB	chr9:1087169-1087506	IMR90	lung:	n/a	chr9:1087352-1087363
36	CEBPB	chr9:1232307-1233098	MCF-7	breast:	n/a	chr9:1233061-1233072 chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816
37	CEBPB	chr9:1232593-1232789	HepG2	liver:	n/a	chr9:1232708-1232721 chr9:1232709-1232720
38	CEBPB	chr9:1198034-1198533	MCF-7	breast:	n/a	n/a
39	CEBPB	chr9:1173097-1173543	MCF-7	breast:	n/a	n/a
40	CEBPB	chr9:1198121-1198664	MCF-7	breast:	n/a	n/a
41	CEBPB	chr9:1233638-1233904	A549	lung:	n/a	n/a
42	CEBPB	chr9:1208265-1208585	IMR90	lung:	n/a	n/a
43	CEBPB	chr9:1110151-1110411	HepG2	liver:	n/a	chr9:1110272-1110283
44	CEBPB	chr9:1110139-1110339	A549	lung:	n/a	chr9:1110272-1110283
45	CEBPB	chr9:1232528-1233024	HepG2	liver:	n/a	chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816
46	CEBPB	chr9:1087170-1087496	A549	lung:	n/a	chr9:1087352-1087363
47	CEBPB	chr9:1233454-1233961	IMR90	lung:	n/a	n/a
48	CEBPB	chr9:1098609-1098809	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr9:1198214-1198422	ECC-1	luminal epithelium:	n/a	n/a
50	CEBPB	chr9:1232072-1232973	IMR90	lung:	n/a	chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:1052046-1052096	MCF10A-Er-Src	breast:	n/a
2	chr9:1052046-1052096	MCF10A-Er-Src	breast:	n/a
3	chr9:1051505-1051555	AG09309	skin:	n/a
4	chr9:1056640-1056690	AG10803	skin:	n/a
5	chr9:1051579-1051629	SKMC	muscle:	n/a
6	chr9:1051505-1051555	SK-N-SH	brain:	n/a
7	chr9:1052239-1052289	HRE	kidney:	n/a
8	chr9:1051579-1051629	AG04450	lung:	fetal
9	chr9:1051579-1051629	Caco-2	colon:	n/a
10	chr9:1051579-1051629	SK-N-MC	brain:	n/a
11	chr9:1052239-1052289	HRCEpiC	kidney:	n/a
12	chr9:1052046-1052096	SK-N-MC	brain:	n/a
13	chr9:1051505-1051555	HRE	kidney:	n/a
14	chr9:1056640-1056690	NB4	blood:	n/a
15	chr9:1052046-1052096	NH-A	brain:	n/a
16	chr9:1054346-1054396	NT2-D1	testis:	n/a
17	chr9:1054346-1054396	U87	brain:	n/a
18	chr9:1052046-1052096	GM12892	blood:	n/a
19	chr9:1052239-1052289	AG04449	skin:	fetal
20	chr9:1052573-1052623	ECC-1	luminal epithelium:	n/a
21	chr9:1051579-1051629	HRE	kidney:	n/a
22	chr9:1052046-1052096	HRCEpiC	kidney:	n/a
23	chr9:1051579-1051629	CMK	blood:	n/a
24	chr9:1056640-1056690	Jurkat	blood:	n/a
25	chr9:1056640-1056690	AG04449	skin:	fetal
26	chr9:1051579-1051629	MCF-7	breast:	n/a
27	chr9:1052239-1052289	HPAEpiC	pulmonary alveolar:	n/a
28	chr9:1051505-1051555	T-47D	breast:	n/a
29	chr9:1051505-1051555	RPTEC	kidney:	n/a
30	chr9:1052046-1052096	ovcar-3	ovarian:	n/a
31	chr9:1051505-1051555	AG10803	skin:	n/a
32	chr9:1052573-1052623	GM12892	blood:	n/a
33	chr9:1052046-1052096	HCM	heart:	n/a
34	chr9:1051579-1051629	GM06990	blood:	n/a
35	chr9:1052046-1052096	SK-N-SH	brain:	n/a
36	chr9:1054346-1054396	SK-N-MC	brain:	n/a
37	chr9:1052239-1052289	HMEC	breast:	n/a
38	chr9:1051579-1051629	AG09309	skin:	n/a
39	chr9:1052239-1052289	IMR90	lung:	fetal
40	chr9:1051579-1051629	H1-hESC	embryonic stem cell:	embryo
41	chr9:1052573-1052623	HCT-116	colon:	n/a
42	chr9:1051505-1051555	HL-60	blood:	n/a
43	chr9:1052239-1052289	AG10803	skin:	n/a
44	chr9:1056640-1056690	NH-A	brain:	n/a
45	chr9:1056640-1056690	SK-N-SH_RA	brain:	n/a
46	chr9:1054346-1054396	HCM	heart:	n/a
47	chr9:1052573-1052623	MCF10A-Er-Src	breast:	n/a
48	chr9:1052239-1052289	K562	blood:	n/a
49	chr9:1052239-1052289	NT2-D1	testis:	n/a
50	chr9:1056640-1056690	K562	blood:	n/a

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
2	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
3	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
4	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
5	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
6	chr9:1156562..1162179-chr9:1163960..1167701,5	MCF-7	breast:
7	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
8	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
9	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
10	chr9:1050299..1051218-chr9:1211358..1212168,3	MCF-7	breast:
11	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
12	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
13	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
14	chr9:1049307..1051830-chr9:1209993..1212929,2	MCF-7	breast:
15	chr9:1167206..1169983-chr9:1171593..1173584,2	MCF-7	breast:
16	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
17	chr9:1036905..1039413-chr9:1128661..1130161,2	MCF-7	breast:
18	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
19	chr9:1167206..1169983-chr9:1171593..1173584,2	MCF-7	breast:
20	chr9:1100898..1101474-chr9:1619645..1620185,2	MCF-7	breast:
21	chr9:1049962..1051601-chr9:1206448..1208602,2	MCF-7	breast:
22	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
23	chr4:183090047..183090870-chr9:1152117..1153038,2	MCF-7	breast:
24	chr9:1156903..1158809-chr9:1163538..1165114,2	MCF-7	breast:
25	chr9:1050169..1051008-chr9:1198034..1198952,5	MCF-7	breast:
26	chr9:1172064..1174566-chr9:1177825..1179718,2	MCF-7	breast:
27	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
28	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
29	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
30	chr9:1017784..1019327-chr9:1158625..1160475,2	MCF-7	breast:
31	chr9:1048644..1051362-chr9:1182528..1184402,2	MCF-7	breast:
32	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
33	chr9:1048965..1051949-chr9:1170856..1173228,2	MCF-7	breast:
34	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
35	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
36	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
37	chr9:1050302..1051381-chr9:1211162..1212085,6	MCF-7	breast:
38	chr9:1163342..1166297-chr9:1170947..1173135,2	MCF-7	breast:
39	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:
40	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
41	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
42	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
43	chr9:1050050..1050882-chr9:1198084..1198894,4	MCF-7	breast:
44	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
45	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
46	chr9:1172064..1174566-chr9:1177825..1179718,2	MCF-7	breast:
47	chr17:35897413..35898334-chr9:1234312..1235126,2	MCF-7	breast:
48	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
49	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
50	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:

(count:25 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
2	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
3	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
4	lnc-C9orf66-12	chr9:1151807-1152140	NONHSAT129965
5	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
7	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
8	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
9	lnc-DMRT2-4	chr9:1300940-1301032	l_3725_chr9:1288276-1302899_breast
10	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
11	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
12	lnc-C9orf66-13	chr9:1164414-1164867	NONHSAT129966
13	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
14	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
15	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast
16	lnc-DMRT2-2	chr9:1298276-1298431	NONHSAT129967
17	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
18	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
19	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast
20	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
21	lnc-DMRT3-5	chr9:1051571-1051622	NONHSAT129963
22	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
23	lnc-DMRT2-2	chr9:1310939-1311032	NONHSAT129967
24	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
25	lnc-DMRT2-4	chr9:1302841-1302899	l_3725_chr9:1288276-1302899_breast

No data

Variant related genes	Relation type
DMRT2	TF binding region
ENSG00000224836	TF binding region
RPS27AP14	TF binding region
DMRT2	CpG island
ENSG00000224836	CpG island
RPS27AP14	CpG island
ENSG00000221227	chromatin interactions
ENSG00000173253	chromatin interactions
ENSG00000236594	chromatin interactions
ENSG00000006114	chromatin interactions
AP3D1	miRNA target sites
AP2M1	miRNA target sites

Extended variants
information (count: 7476 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:7476 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7869989	chr9:1050981-1050982	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
2	rs536816615	chr9:1050984-1050985	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs550409851	chr9:1050990-1050991	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs190205220	chr9:1050992-1050993	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114957944	chr9:1051021-1051022	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs73386585	chr9:1051023-1051024	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs577606622	chr9:1051032-1051033	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs533561182	chr9:1051052-1051053	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs372128789	chr9:1051054-1051055	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs549463751	chr9:1051067-1051068	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs573619998	chr9:1051116-1051117	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs542397910	chr9:1051148-1051149	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs555968978	chr9:1051156-1051157	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs576126724	chr9:1051186-1051187	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545524022	chr9:1051205-1051206	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567250144	chr9:1051224-1051225	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs536275722	chr9:1051278-1051279	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs565242927	chr9:1051337-1051338	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs566199546	chr9:1051377-1051378	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs182526545	chr9:1051402-1051403	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs561528174	chr9:1051431-1051432	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs76298888	chr9:1051444-1051445	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs377085313	chr9:1051472-1051473	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550378901	chr9:1051505-1051506	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
25	rs570312574	chr9:1051516-1051517	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
26	rs531299368	chr9:1051519-1051520	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
27	rs555412208	chr9:1051537-1051538	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
28	rs560382501	chr9:1051557-1051558	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs367839924	chr9:1051560-1051561	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs571259414	chr9:1051564-1051565	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs115201086	chr9:1051567-1051568	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs370378831	chr9:1051638-1051639	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553366710	chr9:1051665-1051666	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567201662	chr9:1051690-1051691	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140484044	chr9:1051713-1051714	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555929952	chr9:1051718-1051719	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576144014	chr9:1051732-1051733	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141952721	chr9:1051738-1051739	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544877652	chr9:1051741-1051742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186801092	chr9:1051758-1051759	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189719450	chr9:1051815-1051816	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372796863	chr9:1051854-1051855	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs541403055	chr9:1051856-1051857	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530416855	chr9:1051861-1051862	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544170039	chr9:1051902-1051903	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs183524725	chr9:1051910-1051911	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532694299	chr9:1051914-1051915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112585712	chr9:1051930-1051931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs571896886	chr9:1051985-1051986	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571287219	chr9:1052024-1052025	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Myelofibrosis	22110671	CNVD
Lynch syndrome	18415027	CNVD
Retinoblastoma	21504564	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	22286061	CNVD
Williams-beuren syndrome	18553513	CNVD
Disorders of sex development	21048976	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
prenatal diagnosis	20453657	CNVD
Gastric cancer	16715143	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Cancer	21272361	CNVD
Autism	22495311	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	22522925	CNVD
Esophageal cancer	21851588	CNVD

Chromatin state (count:912 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1048200-1051000	Enhancers	Gastric	stomach
2	chr9:1048400-1051400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr9:1049600-1051600	Enhancers	Pancreas	Pancrea
4	chr9:1049600-1053400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
5	chr9:1049800-1051000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr9:1049800-1051600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
7	chr9:1049800-1052200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr9:1049800-1052200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
9	chr9:1049800-1053000	Active TSS	Psoas Muscle	Psoas
10	chr9:1049800-1053200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr9:1049800-1053200	Bivalent Enhancer	Liver	Liver
12	chr9:1050000-1051000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr9:1050000-1051000	Bivalent Enhancer	Spleen	Spleen
14	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:1050000-1051200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr9:1050000-1051200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
17	chr9:1050000-1051400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
18	chr9:1050000-1051600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr9:1050000-1051600	Bivalent/Poised TSS	Fetal Thymus	thymus
20	chr9:1050000-1052000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
21	chr9:1050000-1052200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr9:1050000-1052400	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:1050000-1052600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
24	chr9:1050000-1052800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
25	chr9:1050000-1053200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr9:1050000-1053400	Bivalent/Poised TSS	Thymus	Thymus
27	chr9:1050200-1051000	Bivalent Enhancer	Fetal Lung	lung
28	chr9:1050200-1051200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
29	chr9:1050200-1051400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
30	chr9:1050400-1051000	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr9:1050400-1051000	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr9:1050400-1051000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
33	chr9:1050400-1051000	Bivalent Enhancer	Placenta	Placenta
34	chr9:1050400-1051000	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
35	chr9:1050400-1051000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
36	chr9:1050400-1051200	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
37	chr9:1050400-1051600	Weak transcription	Osteobl	bone
38	chr9:1050400-1053200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr9:1050600-1051000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
40	chr9:1050600-1051000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr9:1050600-1051000	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr9:1050600-1051000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
43	chr9:1050600-1051400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr9:1050600-1051600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:1050600-1051600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:1050600-1051600	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
47	chr9:1050600-1051600	Weak transcription	HSMM	muscle
48	chr9:1050600-1051800	Weak transcription	HSMMtube	muscle
49	chr9:1050600-1053000	Bivalent Enhancer	Fetal Stomach	stomach
50	chr9:1050600-1053200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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