Variant report

Variant	nsv539908
Chromosome Location	chr9:1034594-1592366
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2416)
CpG islands
(count:1345)
Chromatin interactive
region (count:99)
LncRNA
region (count:61)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2416 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:1165172-1165199	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:1262535-1262860	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:1232418-1233152	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:1454262-1454586	HepG2	liver:	n/a	n/a
5	ATF2	chr9:1273849-1274227	GM12878	blood:	n/a	n/a
6	ATF2	chr9:1490307-1491149	GM12878	blood:	n/a	n/a
7	ATF2	chr9:1536424-1536957	GM12878	blood:	n/a	n/a
8	ATF2	chr9:1469886-1470491	GM12878	blood:	n/a	n/a
9	ATF2	chr9:1490362-1491115	GM12878	blood:	n/a	n/a
10	ATF2	chr9:1469879-1470564	GM12878	blood:	n/a	n/a
11	ATF2	chr9:1267004-1267465	GM12878	blood:	n/a	n/a
12	ATF2	chr9:1536421-1536930	GM12878	blood:	n/a	n/a
13	ATF2	chr9:1267069-1267434	GM12878	blood:	n/a	n/a
14	BACH1	chr9:1051968-1052204	H1-hESC	embryonic stem cell:	n/a	n/a
15	BATF	chr9:1232670-1232943	GM12878	blood:	n/a	n/a
16	BATF	chr9:1311457-1311704	GM12878	blood:	n/a	n/a
17	BATF	chr9:1535619-1535903	GM12878	blood:	n/a	n/a
18	BATF	chr9:1505545-1505846	GM12878	blood:	n/a	n/a
19	BATF	chr9:1522204-1522433	GM12878	blood:	n/a	n/a
20	BATF	chr9:1490384-1491050	GM12878	blood:	n/a	n/a
21	BATF	chr9:1490300-1491164	GM12878	blood:	n/a	n/a
22	BATF	chr9:1267089-1267384	GM12878	blood:	n/a	n/a
23	BATF	chr9:1514759-1515190	GM12878	blood:	n/a	chr9:1514963-1514974
24	BATF	chr9:1536433-1537132	GM12878	blood:	n/a	chr9:1536673-1536683
25	BATF	chr9:1522199-1522450	GM12878	blood:	n/a	n/a
26	BATF	chr9:1470009-1470366	GM12878	blood:	n/a	chr9:1470172-1470183 chr9:1470265-1470278
27	BATF	chr9:1468627-1468906	GM12878	blood:	n/a	n/a
28	BATF	chr9:1273755-1274200	GM12878	blood:	n/a	chr9:1274007-1274018
29	BATF	chr9:1267065-1267439	GM12878	blood:	n/a	n/a
30	BATF	chr9:1536479-1536843	GM12878	blood:	n/a	chr9:1536673-1536683
31	BCL11A	chr9:1267058-1267389	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:1522572-1522804	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:1536449-1536835	GM12878	blood:	n/a	chr9:1536675-1536684
34	BCL11A	chr9:1490707-1491032	GM12878	blood:	n/a	n/a
35	BCL11A	chr9:1273798-1274241	GM12878	blood:	n/a	n/a
36	BCL11A	chr9:1273784-1274155	GM12878	blood:	n/a	n/a
37	BCL11A	chr9:1522157-1522444	GM12878	blood:	n/a	n/a
38	BCL11A	chr9:1267051-1267422	GM12878	blood:	n/a	n/a
39	BCL11A	chr9:1536584-1536781	GM12878	blood:	n/a	chr9:1536675-1536684
40	BCL11A	chr9:1271872-1272106	GM12878	blood:	n/a	n/a
41	BCL11A	chr9:1554412-1554724	GM12878	blood:	n/a	n/a
42	BCL11A	chr9:1490371-1491127	GM12878	blood:	n/a	n/a
43	BCL3	chr9:1536446-1536852	GM12878	blood:	n/a	chr9:1536675-1536684
44	BCL3	chr9:1458553-1458815	GM12878	blood:	n/a	chr9:1458740-1458749 chr9:1458739-1458748
45	BCL3	chr9:1469934-1470495	GM12878	blood:	n/a	n/a
46	BCL3	chr9:1458432-1458804	GM12878	blood:	n/a	chr9:1458740-1458749 chr9:1458739-1458748
47	BCLAF1	chr9:1267023-1267355	GM12878	blood:	n/a	n/a
48	BCLAF1	chr9:1490418-1491093	GM12878	blood:	n/a	n/a
49	BCLAF1	chr9:1490297-1491172	GM12878	blood:	n/a	n/a
50	BHLHE40	chr9:1522159-1522989	GM12878	blood:	n/a	n/a

(count:1345 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:1043825-1043875	AoSMC	blood vessel:	n/a
2	chr9:1051579-1051629	HEK293	kidney:	embryo
3	chr9:1051505-1051555	AG09319	gingival:	n/a
4	chr9:1043825-1043875	AoSMC	blood vessel:	n/a
5	chr9:1051579-1051629	HEK293	kidney:	embryo
6	chr9:1051505-1051555	AG09319	gingival:	n/a
7	chr9:1054346-1054396	GM12878	blood:	n/a
8	chr9:1052046-1052096	LNCaP	prostate:	n/a
9	chr9:1042202-1042252	ovcar-3	ovarian:	n/a
10	chr9:1046103-1046153	HAEpiC	amniotic membrane:	n/a
11	chr9:1046103-1046153	MCF-7	breast:	n/a
12	chr9:1045050-1045100	HCM	heart:	n/a
13	chr9:1047246-1047296	T-47D	breast:	n/a
14	chr9:1049244-1049294	HepG2	liver:	n/a
15	chr9:1052046-1052096	AG09309	skin:	n/a
16	chr9:1052239-1052289	Hela-S3	cervix:	n/a
17	chr9:1052046-1052096	HepG2	liver:	n/a
18	chr9:1045628-1045678	NT2-D1	testis:	n/a
19	chr9:1045050-1045100	GM19239	blood:	n/a
20	chr9:1056640-1056690	HMEC	breast:	n/a
21	chr9:1045698-1045748	NHDF-neo	bronchial:	n/a
22	chr9:1052046-1052096	AG09319	gingival:	n/a
23	chr9:1043825-1043875	PrEC	prostate:	n/a
24	chr9:1043825-1043875	HAEpiC	amniotic membrane:	n/a
25	chr9:1042770-1042820	SK-N-SH	brain:	n/a
26	chr9:1042770-1042820	LNCaP	prostate:	n/a
27	chr9:1051579-1051629	H1-hESC	embryonic stem cell:	embryo
28	chr9:1046103-1046153	HL-60	blood:	n/a
29	chr9:1042770-1042820	AG09309	skin:	n/a
30	chr9:1047246-1047296	HepG2	liver:	n/a
31	chr9:1056640-1056690	HCPEpiC	choroid plexus:	n/a
32	chr9:1047246-1047296	NHBE	bronchial:	n/a
33	chr9:1052046-1052096	HNPCEpiC	eye:	n/a
34	chr9:1051505-1051555	HEK293	kidney:	embryo
35	chr9:1045628-1045678	HL-60	blood:	n/a
36	chr9:1049244-1049294	HCF	heart:	n/a
37	chr9:1052239-1052289	U87	brain:	n/a
38	chr9:1045698-1045748	Hela-S3	cervix:	n/a
39	chr9:1042869-1042919	AG04449	skin:	fetal
40	chr9:1050680-1050730	SK-N-SH	brain:	n/a
41	chr9:1051579-1051629	NHDF-neo	bronchial:	n/a
42	chr9:1050903-1050953	AG04450	lung:	fetal
43	chr9:1042869-1042919	HCM	heart:	n/a
44	chr9:1042770-1042820	Jurkat	blood:	n/a
45	chr9:1052239-1052289	SAEC	small airway:	n/a
46	chr9:1045698-1045748	A549	lung:	n/a
47	chr9:1052239-1052289	AG04450	lung:	fetal
48	chr9:1052573-1052623	HPAEpiC	pulmonary alveolar:	n/a
49	chr9:1042970-1043020	HCT-116	colon:	n/a
50	chr9:1046103-1046153	NHBE	bronchial:	n/a

(count:99 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
2	chr9:1329896..1332390-chr9:1334019..1336447,2	MCF-7	breast:
3	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
4	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
5	chr9:1017784..1019327-chr9:1158625..1160475,2	MCF-7	breast:
6	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
7	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
8	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:
9	chr9:1315772..1318545-chr9:1320375..1322632,2	K562	blood:
10	chr9:1036905..1039413-chr9:1128661..1130161,2	MCF-7	breast:
11	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
12	chr9:1017910..1018696-chr9:1429132..1429802,2	MCF-7	breast:
13	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
14	chr9:1156562..1162179-chr9:1163960..1167701,5	MCF-7	breast:
15	chr9:1172064..1174566-chr9:1177825..1179718,2	MCF-7	breast:
16	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
17	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
18	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
19	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
20	chr9:1474110..1476318-chr9:1485269..1488138,2	MCF-7	breast:
21	chr9:1050736..1051474-chr9:1211377..1212172,7	MCF-7	breast:
22	chr9:1048965..1051949-chr9:1170856..1173228,2	MCF-7	breast:
23	chr9:1007423..1009287-chr9:1045081..1047981,2	MCF-7	breast:
24	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
25	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
26	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
27	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
28	chr9:1027853..1029813-chr9:1036990..1039141,2	MCF-7	breast:
29	chr9:958996..960730-chr9:1034832..1036725,2	MCF-7	breast:
30	chr9:1124326..1126756-chr9:1130042..1131544,2	MCF-7	breast:
31	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
32	chr9:1329896..1332390-chr9:1334019..1336447,2	MCF-7	breast:
33	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:
34	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
35	chr9:1049884..1050964-chr9:1336243..1337456,4	MCF-7	breast:
36	chr9:1049884..1051008-chr9:1336243..1337579,9	MCF-7	breast:
37	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
38	chr9:1048591..1051547-chr9:1195558..1198367,2	MCF-7	breast:
39	chr9:1036670..1037506-chr9:1050009..1050746,3	MCF-7	breast:
40	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
41	chr9:1017972..1018656-chr9:1527877..1528623,2	MCF-7	breast:
42	chr9:1459729..1460626-chr9:1605062..1605562,2	MCF-7	breast:
43	chr9:1100638..1101499-chr9:1337048..1337780,3	MCF-7	breast:
44	chr9:1444036..1446024-chr9:1452969..1455867,2	MCF-7	breast:
45	chr9:1172064..1174566-chr9:1177825..1179718,2	MCF-7	breast:
46	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
47	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
48	chr9:1050050..1050882-chr9:1198084..1198894,4	MCF-7	breast:
49	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
50	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:

(count:61 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
2	lnc-DMRT2-1	chr9:1046079-1047957	XLOC_007262
3	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
4	lnc-C9orf66-12	chr9:1151807-1152140	NONHSAT129965
5	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1312841-1312899	XLOC_007263
7	lnc-DMRT3-5	chr9:1050621-1050775	NONHSAT129963
8	lnc-DMRT2-2	chr9:1327074-1327173	XLOC_007263
9	lnc-DMRT2-1	chr9:1047151-1049242	XLOC_007262
10	lnc-DMRT2-3	chr9:1037151-1038637	l_3724_chr9:1035597-1038637_adipose
11	lnc-DMRT2-1	chr9:1046419-1046776	XLOC_007262
12	lnc-DMRT2-6	chr9:1368147-1368400	NONHSAT129976
13	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262
14	lnc-DMRT2-1	chr9:1047151-1048732	XLOC_007262
15	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
16	lnc-DMRT2-2	chr9:1321457-1321494	XLOC_007263
17	lnc-DMRT2-1	chr9:1046579-1046776	XLOC_007262
18	lnc-DMRT2-3	chr9:1036576-1036776	l_3724_chr9:1035597-1038637_adipose
19	lnc-DMRT2-5	chr9:1328664-1328987	NONHSAT129974
20	lnc-DMRT2-2	chr9:1312840-1312899	NONHSAT129967
21	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
22	lnc-DMRT2-2	chr9:1328425-1328584	XLOC_007263
23	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast
24	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
25	lnc-DMRT2-1	chr9:1045834-1046069	XLOC_007262
26	lnc-DMRT2-2	chr9:1312841-1312897	XLOC_007263
27	lnc-C9orf66-13	chr9:1164414-1164867	NONHSAT129966
28	lnc-DMRT2-4	chr9:1317074-1317173	l_3725_chr9:1288276-1302899_breast
29	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
30	lnc-DMRT2-1	chr9:1045426-1045800	XLOC_007262
31	lnc-C9orf66-6	chr9:1041868-1042520	XLOC_007630
32	lnc-DMRT2-3	chr9:1035598-1035800	l_3724_chr9:1035597-1038637_adipose
33	lnc-DMRT3-5	chr9:1051571-1051622	NONHSAT129963
34	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
35	lnc-DMRT2-4	chr9:1318425-1318584	l_3725_chr9:1288276-1302899_breast
36	lnc-DMRT2-2	chr9:1327073-1327173	NONHSAT129967
37	lnc-DMRT3-5	chr9:1050356-1050482	NONHSAT129963
38	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast
39	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
40	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
41	lnc-DMRT2-1	chr9:1048594-1048638	NONHSAT129961
42	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
43	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
44	lnc-DMRT2-4	chr9:1302841-1302899	l_3725_chr9:1288276-1302899_breast
45	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
46	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
47	lnc-DMRT2-1	chr9:1048594-1048630	XLOC_007262
48	lnc-DMRT2-6	chr9:1354235-1354272	NONHSAT129976
49	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
50	lnc-DMRT2-2	chr9:1310939-1311032	NONHSAT129967

No data

Variant related genes	Relation type
DMRT2	TF binding region
ENSG00000233575	TF binding region
ENSG00000224836	TF binding region
RPS27AP14	TF binding region
RNA5SP279	TF binding region
DMRT2	CpG island
ENSG00000233575	CpG island
ENSG00000224836	CpG island
RPS27AP14	CpG island
RNA5SP279	CpG island
ENSG00000173253	chromatin interactions
ENSG00000006114	chromatin interactions
ENSG00000221227	chromatin interactions
ENSG00000236594	chromatin interactions
PPARG	miRNA target sites
PPARA	miRNA target sites
AP3D1	miRNA target sites
AP2M1	miRNA target sites
PSMA2	miRNA target sites

Extended variants
information (count: 19739 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:19739 , 50 per page) page: 1 2 3 4 5 6 7 ... 395

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs578042590	chr9:1035619-1035620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs540576336	chr9:1035629-1035630	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs553773635	chr9:1035633-1035634	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs190215072	chr9:1035672-1035673	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs182524713	chr9:1035705-1035706	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs367847390	chr9:1035709-1035710	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs56997149	chr9:1035714-1035715	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs531978751	chr9:1035715-1035716	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs543963919	chr9:1035722-1035723	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs564166522	chr9:1035723-1035724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs532888340	chr9:1035728-1035729	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs1509193	chr9:1035734-1035735	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs566488563	chr9:1035746-1035747	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs150549203	chr9:1035756-1035757	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs527397255	chr9:1035762-1035763	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs201490682	chr9:1035765-1035766	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs10958987	chr9:1035786-1035787	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs537723538	chr9:1036654-1036655	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs563359130	chr9:1036682-1036683	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs149946256	chr9:1036725-1036726	Inactive region	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs376282446	chr9:1036799-1036800	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55832302	chr9:1036807-1036808	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs111901085	chr9:1036823-1036824	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs373994553	chr9:1036826-1036827	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs567312341	chr9:1036848-1036849	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs146427705	chr9:1036851-1036852	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs556286568	chr9:1036871-1036872	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576647265	chr9:1036873-1036874	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs538977796	chr9:1036877-1036878	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs140767982	chr9:1036882-1036883	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs74492746	chr9:1036924-1036925	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs540325792	chr9:1036938-1036939	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs559739273	chr9:1036955-1036956	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs144589225	chr9:1036985-1036986	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs192954265	chr9:1037000-1037001	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs75423648	chr9:1037019-1037020	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs528122751	chr9:1037023-1037024	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs562363103	chr9:1037025-1037026	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs540758302	chr9:1037027-1037028	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs146706125	chr9:1037035-1037036	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs563724009	chr9:1037071-1037072	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567985226	chr9:1037077-1037078	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs368421656	chr9:1037089-1037090	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs140285184	chr9:1037113-1037114	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs868655	chr9:1037118-1037119	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs143790600	chr9:1037120-1037121	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs185264575	chr9:1037193-1037194	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs536368960	chr9:1037198-1037199	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs187161997	chr9:1037200-1037201	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs868654	chr9:1037203-1037204	Enhancers	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:1963 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1036800-1038000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr9:1036800-1038200	Enhancers	Adipose Nuclei	Adipose
3	chr9:1037400-1037800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:1038000-1039000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:1038200-1039600	Weak transcription	Adipose Nuclei	Adipose
6	chr9:1039000-1042200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:1039200-1039400	Bivalent Enhancer	Fetal Brain Male	brain
8	chr9:1039200-1039400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
9	chr9:1039200-1040000	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr9:1039600-1041800	Enhancers	Adipose Nuclei	Adipose
11	chr9:1040000-1040200	Bivalent Enhancer	Fetal Brain Male	brain
12	chr9:1040000-1041600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:1040200-1040400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:1041400-1043800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr9:1041800-1042000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:1041800-1042200	Bivalent Enhancer	Adipose Nuclei	Adipose
17	chr9:1041800-1042400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr9:1041800-1042400	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr9:1042000-1042200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
20	chr9:1042000-1042200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
21	chr9:1042000-1042200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
22	chr9:1042000-1042200	Bivalent Enhancer	Brain Hippocampus Middle	brain
23	chr9:1042000-1042200	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr9:1042000-1042200	Enhancers	Right Atrium	heart
25	chr9:1042000-1042400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr9:1042000-1042400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr9:1042000-1042400	Bivalent Enhancer	Fetal Kidney	kidney
28	chr9:1042000-1042400	Bivalent/Poised TSS	Psoas Muscle	Psoas
29	chr9:1042000-1042600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:1042000-1042600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
31	chr9:1042000-1042600	Bivalent Enhancer	Brain Substantia Nigra	brain
32	chr9:1042000-1042600	Bivalent Enhancer	Fetal Lung	lung
33	chr9:1042000-1042600	Bivalent Enhancer	Fetal Thymus	thymus
34	chr9:1042000-1042800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
35	chr9:1042000-1042800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
36	chr9:1042000-1042800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
37	chr9:1042000-1042800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
38	chr9:1042000-1042800	Enhancers	Lung	lung
39	chr9:1042000-1043000	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr9:1042200-1042400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:1042200-1042400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
42	chr9:1042200-1042400	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
43	chr9:1042200-1042400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
44	chr9:1042200-1042400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr9:1042200-1042400	Bivalent Enhancer	Aorta	Aorta
46	chr9:1042200-1042400	Bivalent Enhancer	Liver	Liver
47	chr9:1042200-1042400	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr9:1042200-1042400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
49	chr9:1042200-1042400	Enhancers	Pancreas	Pancrea
50	chr9:1042200-1042400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links