Variant report

Variant	nsv1016222
Chromosome Location	chr9:999390-1284180
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1941)
CpG islands
(count:1343)
Chromatin interactive
region (count:92)
LncRNA
region (count:26)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1941 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

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	chr9:1009225-1009309	K562	blood:	n/a	n/a
3	ARID3A	chr9:1165172-1165199	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:1232418-1233152	HepG2	liver:	n/a	n/a
5	ATF1	chr9:1013083-1013384	K562	blood:	n/a	n/a
6	ATF2	chr9:1267004-1267465	GM12878	blood:	n/a	n/a
7	ATF2	chr9:1273849-1274227	GM12878	blood:	n/a	n/a
8	ATF2	chr9:1267069-1267434	GM12878	blood:	n/a	n/a
9	ATF3	chr9:1018242-1018408	K562	blood:	n/a	n/a
10	ATF3	chr9:1018219-1018540	HepG2	liver:	n/a	n/a
11	BACH1	chr9:1051968-1052204	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr9:1005054-1005459	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr9:1273755-1274200	GM12878	blood:	n/a	chr9:1274007-1274018
14	BATF	chr9:1267065-1267439	GM12878	blood:	n/a	n/a
15	BATF	chr9:1232670-1232943	GM12878	blood:	n/a	n/a
16	BATF	chr9:1267089-1267384	GM12878	blood:	n/a	n/a
17	BCL11A	chr9:1271872-1272106	GM12878	blood:	n/a	n/a
18	BCL11A	chr9:1273784-1274155	GM12878	blood:	n/a	n/a
19	BCL11A	chr9:1267058-1267389	GM12878	blood:	n/a	n/a
20	BCL11A	chr9:1267051-1267422	GM12878	blood:	n/a	n/a
21	BCL11A	chr9:1273798-1274241	GM12878	blood:	n/a	n/a
22	BCLAF1	chr9:1267023-1267355	GM12878	blood:	n/a	n/a
23	BHLHE40	chr9:1018136-1018550	HepG2	liver:	n/a	chr9:1018361-1018370 chr9:1018359-1018372 chr9:1018362-1018371 chr9:1018361-1018370 chr9:1018360-1018369 chr9:1018355-1018376
24	BHLHE40	chr9:1009111-1009469	HepG2	liver:	n/a	chr9:1009235-1009251
25	BHLHE40	chr9:1048341-1048536	GM12878	blood:	n/a	n/a
26	BHLHE40	chr9:1047814-1047943	GM12878	blood:	n/a	n/a
27	BHLHE40	chr9:1267079-1267545	GM12878	blood:	n/a	n/a
28	BHLHE40	chr9:1009153-1009539	GM12878	blood:	n/a	chr9:1009235-1009251
29	BHLHE40	chr9:1269746-1270488	GM12878	blood:	n/a	n/a
30	BHLHE40	chr9:1005037-1005437	GM12878	blood:	n/a	n/a
31	BHLHE40	chr9:1051946-1052195	GM12878	blood:	n/a	n/a
32	BHLHE40	chr9:1050246-1050419	GM12878	blood:	n/a	n/a
33	BHLHE40	chr9:1270807-1271031	GM12878	blood:	n/a	n/a
34	BHLHE40	chr9:1271859-1272122	GM12878	blood:	n/a	n/a
35	BHLHE40	chr9:1018311-1018500	A549	lung:	n/a	chr9:1018361-1018370 chr9:1018359-1018372 chr9:1018362-1018371 chr9:1018361-1018370 chr9:1018360-1018369 chr9:1018355-1018376
36	BHLHE40	chr9:1018168-1018552	K562	blood:	n/a	chr9:1018361-1018370 chr9:1018359-1018372 chr9:1018362-1018371 chr9:1018361-1018370 chr9:1018360-1018369 chr9:1018355-1018376
37	BHLHE40	chr9:1273916-1274170	GM12878	blood:	n/a	n/a
38	BHLHE40	chr9:1009121-1009447	K562	blood:	n/a	chr9:1009235-1009251
39	BHLHE40	chr9:1096310-1096565	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:1157837-1158199	GM12878	blood:	n/a	n/a
41	BHLHE40	chr9:1029343-1029345	A549	lung:	n/a	n/a
42	BHLHE40	chr9:1018181-1018542	GM12878	blood:	n/a	chr9:1018361-1018370 chr9:1018359-1018372 chr9:1018362-1018371 chr9:1018361-1018370 chr9:1018360-1018369 chr9:1018355-1018376
43	BHLHE40	chr9:1184742-1184955	GM12878	blood:	n/a	n/a
44	BRCA1	chr9:1009140-1009395	Hela-S3	cervix:	n/a	n/a
45	BRCA1	chr9:1009179-1009384	HepG2	liver:	n/a	n/a
46	CEBPB	chr9:1005104-1005356	HepG2	liver:	n/a	n/a
47	CEBPB	chr9:1045510-1045670	A549	lung:	n/a	n/a
48	CEBPB	chr9:1232402-1232946	MCF-7	breast:	n/a	chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816
49	CEBPB	chr9:1045468-1045736	HepG2	liver:	n/a	n/a
50	CEBPB	chr9:1232307-1233098	MCF-7	breast:	n/a	chr9:1233061-1233072 chr9:1232708-1232721 chr9:1232709-1232720 chr9:1232805-1232816

(count:1343 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:1045050-1045100	HL-60	blood:	n/a
2	chr9:1045050-1045100	HL-60	blood:	n/a
3	chr9:1052046-1052096	K562	blood:	n/a
4	chr9:1042869-1042919	SK-N-SH_RA	brain:	n/a
5	chr9:1046103-1046153	IMR90	lung:	fetal
6	chr9:1047246-1047296	AoSMC	blood vessel:	n/a
7	chr9:1049244-1049294	AoSMC	blood vessel:	n/a
8	chr9:1050680-1050730	HCF	heart:	n/a
9	chr9:1045050-1045100	HCT-116	colon:	n/a
10	chr9:1042202-1042252	NB4	blood:	n/a
11	chr9:1045050-1045100	HRPEpiC	eye:	n/a
12	chr9:1054346-1054396	Jurkat	blood:	n/a
13	chr9:1042202-1042252	HNPCEpiC	eye:	n/a
14	chr9:1047220-1047270	AG04449	skin:	fetal
15	chr9:1047246-1047296	GM06990	blood:	n/a
16	chr9:1042869-1042919	SK-N-SH	brain:	n/a
17	chr9:1049244-1049294	PANC-1	pancreas:	n/a
18	chr9:1054346-1054396	MCF10A-Er-Src	breast:	n/a
19	chr9:1046103-1046153	Caco-2	colon:	n/a
20	chr9:1042770-1042820	U87	brain:	n/a
21	chr9:1051579-1051629	ovcar-3	ovarian:	n/a
22	chr9:1054346-1054396	H1-hESC	embryonic stem cell:	embryo
23	chr9:1052046-1052096	AG09309	skin:	n/a
24	chr9:1043825-1043875	AG10803	skin:	n/a
25	chr9:1046103-1046153	HRCEpiC	kidney:	n/a
26	chr9:1049244-1049294	MCF-7	breast:	n/a
27	chr9:1045698-1045748	AG09309	skin:	n/a
28	chr9:1051505-1051555	PrEC	prostate:	n/a
29	chr9:1052573-1052623	GM19239	blood:	n/a
30	chr9:1042869-1042919	MCF10A-Er-Src	breast:	n/a
31	chr9:1051505-1051555	BE2_C	brain:	n/a
32	chr9:1052046-1052096	NH-A	brain:	n/a
33	chr9:1056640-1056690	BJ	skin:	n/a
34	chr9:1046103-1046153	HAEpiC	amniotic membrane:	n/a
35	chr9:1049244-1049294	HIPEpiC	eye:	n/a
36	chr9:1042869-1042919	AoSMC	blood vessel:	n/a
37	chr9:1047220-1047270	BE2_C	brain:	n/a
38	chr9:1045628-1045678	BJ	skin:	n/a
39	chr9:1042970-1043020	MCF-7	breast:	n/a
40	chr9:1052046-1052096	HUVEC	blood vessel:	n/a
41	chr9:1042869-1042919	NT2-D1	testis:	n/a
42	chr9:1054346-1054396	HNPCEpiC	eye:	n/a
43	chr9:1042970-1043020	NB4	blood:	n/a
44	chr9:1047246-1047296	T-47D	breast:	n/a
45	chr9:1045698-1045748	MCF10A-Er-Src	breast:	n/a
46	chr9:1056640-1056690	SK-N-SH	brain:	n/a
47	chr9:1047246-1047296	HepG2	liver:	n/a
48	chr9:1043825-1043875	PFSK-1	brain:	n/a
49	chr9:1046103-1046153	HEEpiC	esophagus:	n/a
50	chr9:1052573-1052623	MCF-7	breast:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
2	chr9:1050302..1051381-chr9:1211162..1212085,6	MCF-7	breast:
3	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
4	chr9:1025025..1027123-chr9:1035278..1038960,3	MCF-7	breast:
5	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
6	chr9:1156903..1158809-chr9:1163538..1165114,2	MCF-7	breast:
7	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
8	chr9:1036905..1039413-chr9:1128661..1130161,2	MCF-7	breast:
9	chr9:892827..894783-chr9:997829..1000001,46	MCF-7	breast:
10	chr9:1025025..1027123-chr9:1035278..1038960,3	MCF-7	breast:
11	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
12	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
13	chr9:1007423..1009287-chr9:1045081..1047981,2	MCF-7	breast:
14	chr9:1050299..1051218-chr9:1211358..1212168,3	MCF-7	breast:
15	chr6:89674376..89674876-chr9:1017838..1018522,2	MCF-7	breast:
16	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
17	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
18	chr9:1036625..1037531-chr9:1049940..1050989,10	MCF-7	breast:
19	chr9:893804..894399-chr9:1008894..1009774,3	K562	blood:
20	chr9:1050169..1051008-chr9:1198034..1198952,5	MCF-7	breast:
21	chr9:1163342..1166297-chr9:1170947..1173135,2	MCF-7	breast:
22	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
23	chr9:1048965..1051949-chr9:1170856..1173228,2	MCF-7	breast:
24	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
25	chr9:1050050..1050882-chr9:1198084..1198894,4	MCF-7	breast:
26	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
27	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
28	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:
29	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
30	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
31	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
32	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
33	chr9:1027853..1029813-chr9:1036990..1039141,2	MCF-7	breast:
34	chr9:385756..386457-chr9:1008777..1009377,2	MCF-7	breast:
35	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
36	chr9:893739..894732-chr9:1008819..1009733,5	MCF-7	breast:
37	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
38	chr9:892914..894635-chr9:997792..999398,19	MCF-7	breast:
39	chr9:893937..894571-chr9:1000555..1001318,2	MCF-7	breast:
40	chr9:1049307..1051830-chr9:1209993..1212929,2	MCF-7	breast:
41	chr9:887794..889918-chr9:1005357..1008295,2	MCF-7	breast:
42	chr9:1036670..1037506-chr9:1050009..1050746,3	MCF-7	breast:
43	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
44	chr7:31567098..31567732-chr9:1023490..1024312,2	MCF-7	breast:
45	chr9:1007423..1009287-chr9:1045081..1047981,2	MCF-7	breast:
46	chr9:891599..892777-chr9:998523..999622,4	MCF-7	breast:
47	chr9:1050100..1050940-chr9:1085686..1086526,2	MCF-7	breast:
48	chr9:763938..764768-chr9:1004823..1005723,3	MCF-7	breast:
49	chr9:1036905..1039413-chr9:1128661..1130161,2	MCF-7	breast:
50	chr9:1049962..1051601-chr9:1206448..1208602,2	MCF-7	breast:

(count:26 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-1	chr9:1048594-1048638	NONHSAT129961
2	lnc-DMRT2-1	chr9:1047151-1049242	XLOC_007262
3	lnc-DMRT2-1	chr9:1045426-1045800	XLOC_007262
4	lnc-DMRT2-1	chr9:1046579-1046776	XLOC_007262
5	lnc-C9orf66-11	chr9:1031868-1032520	NONHSAT129957
6	lnc-DMRT2-3	chr9:1036576-1036776	l_3724_chr9:1035597-1038637_adipose
7	lnc-DMRT2-1	chr9:1048594-1048630	XLOC_007262
8	lnc-DMRT2-1	chr9:1045834-1046069	XLOC_007262
9	lnc-C9orf66-11	chr9:1031219-1031345	NONHSAT129957
10	lnc-DMRT3-5	chr9:1050621-1050775	NONHSAT129963
11	lnc-DMRT3-4	chr9:1011710-1011799	NONHSAT129956
12	lnc-DMRT2-1	chr9:1046579-1046776	XLOC_007262
13	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262
14	lnc-C9orf66-13	chr9:1164414-1164867	NONHSAT129966
15	lnc-DMRT2-1	chr9:1046419-1046776	XLOC_007262
16	lnc-DMRT3-5	chr9:1050356-1050482	NONHSAT129963
17	lnc-C9orf66-12	chr9:1151807-1152140	NONHSAT129965
18	lnc-DMRT2-1	chr9:1046079-1047957	XLOC_007262
19	lnc-DMRT2-1	chr9:1046079-1047957	NONHSAT129961
20	lnc-DMRT2-3	chr9:1035598-1035800	l_3724_chr9:1035597-1038637_adipose
21	lnc-DMRT3-4	chr9:1011085-1011386	NONHSAT129956
22	lnc-C9orf66-6	chr9:1041219-1041345	XLOC_007630
23	lnc-C9orf66-6	chr9:1041868-1042520	XLOC_007630
24	lnc-DMRT2-3	chr9:1037151-1038637	l_3724_chr9:1035597-1038637_adipose
25	lnc-DMRT3-5	chr9:1051571-1051622	NONHSAT129963
26	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262

No data

Variant related genes	Relation type
DMRT2	TF binding region
ENSG00000228783	TF binding region
ENSG00000224836	TF binding region
RNU6-1073P	TF binding region
RPS27AP14	TF binding region
DMRT2	CpG island
ENSG00000228783	CpG island
ENSG00000224836	CpG island
RNU6-1073P	CpG island
RPS27AP14	CpG island
ENSG00000006114	chromatin interactions
ENSG00000221227	chromatin interactions
ENSG00000173253	chromatin interactions
ENSG00000236594	chromatin interactions
PPARG	miRNA target sites
PPARA	miRNA target sites
PSMA2	miRNA target sites

Extended variants
information (count: 9021 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:9021 , 50 per page) page: 1 2 3 4 5 6 7 ... 181

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192264740	chr9:999418-999419	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566402049	chr9:999429-999430	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532160006	chr9:999452-999453	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs545987841	chr9:999467-999468	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559583663	chr9:999470-999471	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528608255	chr9:999478-999479	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138047251	chr9:999484-999485	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548154587	chr9:999576-999577	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377241867	chr9:999577-999578	ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs78325573	chr9:999602-999603	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550948812	chr9:999658-999659	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571135439	chr9:999776-999777	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529363496	chr9:999812-999813	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs373742770	chr9:999814-999815	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553580621	chr9:999819-999820	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs149176911	chr9:999848-999849	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs185149447	chr9:999891-999892	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554721367	chr9:999894-999895	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574458902	chr9:999904-999905	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543408396	chr9:999917-999918	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556933450	chr9:999972-999973	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs551639836	chr9:1000040-1000041	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs568693625	chr9:1000056-1000057	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs141304343	chr9:1000066-1000067	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116420757	chr9:1000077-1000078	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs565478122	chr9:1000078-1000079	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559147815	chr9:1000088-1000089	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189994282	chr9:1000096-1000097	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143264069	chr9:1000107-1000108	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561866803	chr9:1000112-1000113	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs530776450	chr9:1000153-1000154	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs550995430	chr9:1000199-1000200	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs571055993	chr9:1000210-1000211	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76653332	chr9:1000222-1000223	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs142133107	chr9:1000230-1000231	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs7856573	chr9:1000243-1000244	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs67580838	chr9:1000254-1000255	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs536078432	chr9:1000303-1000304	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548259954	chr9:1000314-1000315	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569295342	chr9:1000365-1000366	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs542435151	chr9:1000378-1000379	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568169950	chr9:1000382-1000383	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536632808	chr9:1000418-1000419	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374578818	chr9:1000433-1000434	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577039320	chr9:1000434-1000435	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs454783	chr9:1000439-1000440	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs562230908	chr9:1000463-1000464	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140436505	chr9:1000465-1000466	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs572671075	chr9:1000477-1000478	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181300742	chr9:1000494-1000495	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
Breast cancer	22522925	CNVD
Ependymoma	20639864	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
T-cell lymphomas	22341440	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
Esophageal cancer	21851588	CNVD

Chromatin state (count:1858 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:996000-999400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:996400-1001800	Weak transcription	HSMMtube	muscle
3	chr9:996400-1007400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr9:999000-999400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
5	chr9:999000-999400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr9:999000-999600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr9:999000-999600	Enhancers	Placenta	Placenta
8	chr9:999000-1000000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr9:999000-1000200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr9:999000-1000200	ZNF genes & repeats	A549	lung
11	chr9:999000-1000400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr9:999000-1000600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr9:999200-999400	Flanking Active TSS	Stomach Mucosa	stomach
14	chr9:999200-999600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr9:999200-999600	Enhancers	Fetal Muscle Leg	muscle
16	chr9:999200-1000000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:999200-1000200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr9:999200-1000200	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr9:999200-1000400	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr9:999200-1000600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr9:999200-1000800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:999400-999600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:999400-999600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr9:999400-999800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
25	chr9:999400-999800	Enhancers	Stomach Mucosa	stomach
26	chr9:999400-1000800	Enhancers	Colonic Mucosa	Colon
27	chr9:999600-999800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr9:999600-999800	Weak transcription	GM12878-XiMat	blood
29	chr9:999600-1001800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:999600-1002400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr9:1000000-1000200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr9:1000200-1009200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr9:1000400-1000600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr9:1000600-1004800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr9:1000800-1001200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr9:1001600-1002000	Weak transcription	HSMM	muscle
37	chr9:1001800-1002200	Enhancers	HSMMtube	muscle
38	chr9:1001800-1002400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr9:1001800-1002800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr9:1002000-1002200	Enhancers	HSMM	muscle
41	chr9:1002200-1007000	Weak transcription	HSMM	muscle
42	chr9:1002200-1007600	Weak transcription	HSMMtube	muscle
43	chr9:1002400-1002600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:1002600-1004200	Enhancers	GM12878-XiMat	blood
45	chr9:1002800-1007000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr9:1004200-1004600	Weak transcription	GM12878-XiMat	blood
47	chr9:1004400-1005000	Weak transcription	Adipose Nuclei	Adipose
48	chr9:1004600-1005800	Enhancers	GM12878-XiMat	blood
49	chr9:1004800-1005000	Bivalent Enhancer	Brain Angular Gyrus	brain
50	chr9:1004800-1005200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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