Variant report

Variant	esv2758176
Chromosome Location	chr9:1055347-1529128
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1874)
CpG islands
(count:61)
Chromatin interactive
region (count:88)
LncRNA
region (count:41)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1874 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

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	chr9:1232418-1233152	HepG2	liver:	n/a	n/a
3	ARID3A	chr9:1262535-1262860	HepG2	liver:	n/a	n/a
4	ARID3A	chr9:1454262-1454586	HepG2	liver:	n/a	n/a
5	ATF2	chr9:1490307-1491149	GM12878	blood:	n/a	n/a
6	ATF2	chr9:1469886-1470491	GM12878	blood:	n/a	n/a
7	ATF2	chr9:1469879-1470564	GM12878	blood:	n/a	n/a
8	ATF2	chr9:1267069-1267434	GM12878	blood:	n/a	n/a
9	ATF2	chr9:1490362-1491115	GM12878	blood:	n/a	n/a
10	ATF2	chr9:1273849-1274227	GM12878	blood:	n/a	n/a
11	ATF2	chr9:1267004-1267465	GM12878	blood:	n/a	n/a
12	BATF	chr9:1505545-1505846	GM12878	blood:	n/a	n/a
13	BATF	chr9:1267065-1267439	GM12878	blood:	n/a	n/a
14	BATF	chr9:1468627-1468906	GM12878	blood:	n/a	n/a
15	BATF	chr9:1490384-1491050	GM12878	blood:	n/a	n/a
16	BATF	chr9:1232670-1232943	GM12878	blood:	n/a	n/a
17	BATF	chr9:1311457-1311704	GM12878	blood:	n/a	n/a
18	BATF	chr9:1514759-1515190	GM12878	blood:	n/a	chr9:1514963-1514974
19	BATF	chr9:1522199-1522450	GM12878	blood:	n/a	n/a
20	BATF	chr9:1273755-1274200	GM12878	blood:	n/a	chr9:1274007-1274018
21	BATF	chr9:1490300-1491164	GM12878	blood:	n/a	n/a
22	BATF	chr9:1267089-1267384	GM12878	blood:	n/a	n/a
23	BATF	chr9:1522204-1522433	GM12878	blood:	n/a	n/a
24	BATF	chr9:1470009-1470366	GM12878	blood:	n/a	chr9:1470172-1470183 chr9:1470265-1470278
25	BCL11A	chr9:1273784-1274155	GM12878	blood:	n/a	n/a
26	BCL11A	chr9:1490371-1491127	GM12878	blood:	n/a	n/a
27	BCL11A	chr9:1271872-1272106	GM12878	blood:	n/a	n/a
28	BCL11A	chr9:1267051-1267422	GM12878	blood:	n/a	n/a
29	BCL11A	chr9:1522157-1522444	GM12878	blood:	n/a	n/a
30	BCL11A	chr9:1267058-1267389	GM12878	blood:	n/a	n/a
31	BCL11A	chr9:1273798-1274241	GM12878	blood:	n/a	n/a
32	BCL11A	chr9:1490707-1491032	GM12878	blood:	n/a	n/a
33	BCL11A	chr9:1522572-1522804	GM12878	blood:	n/a	n/a
34	BCL3	chr9:1458553-1458815	GM12878	blood:	n/a	chr9:1458740-1458749 chr9:1458739-1458748
35	BCL3	chr9:1458432-1458804	GM12878	blood:	n/a	chr9:1458740-1458749 chr9:1458739-1458748
36	BCL3	chr9:1469934-1470495	GM12878	blood:	n/a	n/a
37	BCLAF1	chr9:1490418-1491093	GM12878	blood:	n/a	n/a
38	BCLAF1	chr9:1267023-1267355	GM12878	blood:	n/a	n/a
39	BCLAF1	chr9:1490297-1491172	GM12878	blood:	n/a	n/a
40	BHLHE40	chr9:1267079-1267545	GM12878	blood:	n/a	n/a
41	BHLHE40	chr9:1270807-1271031	GM12878	blood:	n/a	n/a
42	BHLHE40	chr9:1329191-1329209	GM12878	blood:	n/a	n/a
43	BHLHE40	chr9:1460181-1460500	HepG2	liver:	n/a	n/a
44	BHLHE40	chr9:1490542-1491092	GM12878	blood:	n/a	n/a
45	BHLHE40	chr9:1469908-1470375	GM12878	blood:	n/a	n/a
46	BHLHE40	chr9:1184742-1184955	GM12878	blood:	n/a	n/a
47	BHLHE40	chr9:1271859-1272122	GM12878	blood:	n/a	n/a
48	BHLHE40	chr9:1425741-1425826	GM12878	blood:	n/a	n/a
49	BHLHE40	chr9:1273916-1274170	GM12878	blood:	n/a	n/a
50	BHLHE40	chr9:1269746-1270488	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:1056640-1056690	Hepatocyte	liver:	n/a
2	chr9:1056640-1056690	Hela-S3	cervix:	n/a
3	chr9:1056640-1056690	HUVEC	blood vessel:	n/a
4	chr9:1056640-1056690	Jurkat	blood:	n/a
5	chr9:1056640-1056690	HRPEpiC	eye:	n/a
6	chr9:1056640-1056690	HEEpiC	esophagus:	n/a
7	chr9:1056640-1056690	AG04450	lung:	fetal
8	chr9:1056640-1056690	HCM	heart:	n/a
9	chr9:1056640-1056690	HepG2	liver:	n/a
10	chr9:1056640-1056690	ECC-1	luminal epithelium:	n/a
11	chr9:1056640-1056690	AG10803	skin:	n/a
12	chr9:1056640-1056690	MCF10A-Er-Src	breast:	n/a
13	chr9:1056640-1056690	AG04449	skin:	fetal
14	chr9:1056640-1056690	NT2-D1	testis:	n/a
15	chr9:1056640-1056690	U87	brain:	n/a
16	chr9:1056640-1056690	HAEpiC	amniotic membrane:	n/a
17	chr9:1056640-1056690	HMEC	breast:	n/a
18	chr9:1056640-1056690	RPTEC	kidney:	n/a
19	chr9:1056640-1056690	HRCEpiC	kidney:	n/a
20	chr9:1056640-1056690	GM12892	blood:	n/a
21	chr9:1056640-1056690	H1-hESC	embryonic stem cell:	embryo
22	chr9:1056640-1056690	AG09309	skin:	n/a
23	chr9:1056640-1056690	HRE	kidney:	n/a
24	chr9:1056640-1056690	BE2_C	brain:	n/a
25	chr9:1056640-1056690	HCPEpiC	choroid plexus:	n/a
26	chr9:1056640-1056690	BJ	skin:	n/a
27	chr9:1056640-1056690	CMK	blood:	n/a
28	chr9:1056640-1056690	HCT-116	colon:	n/a
29	chr9:1056640-1056690	PANC-1	pancreas:	n/a
30	chr9:1056640-1056690	HL-60	blood:	n/a
31	chr9:1056640-1056690	AoSMC	blood vessel:	n/a
32	chr9:1056640-1056690	GM12878	blood:	n/a
33	chr9:1056640-1056690	ProgFib	skin:	n/a
34	chr9:1056640-1056690	HNPCEpiC	eye:	n/a
35	chr9:1056640-1056690	T-47D	breast:	n/a
36	chr9:1056640-1056690	IMR90	lung:	fetal
37	chr9:1056640-1056690	PrEC	prostate:	n/a
38	chr9:1056640-1056690	ovcar-3	ovarian:	n/a
39	chr9:1056640-1056690	NHDF-neo	bronchial:	n/a
40	chr9:1056640-1056690	HEK293	kidney:	embryo
41	chr9:1056640-1056690	LNCaP	prostate:	n/a
42	chr9:1056640-1056690	SK-N-SH_RA	brain:	n/a
43	chr9:1056640-1056690	NHBE	bronchial:	n/a
44	chr9:1056640-1056690	PFSK-1	brain:	n/a
45	chr9:1056640-1056690	MCF-7	breast:	n/a
46	chr9:1056640-1056690	HIPEpiC	eye:	n/a
47	chr9:1056640-1056690	SK-N-MC	brain:	n/a
48	chr9:1056640-1056690	HCF	heart:	n/a
49	chr9:1056640-1056690	SK-N-SH	brain:	n/a
50	chr9:1056640-1056690	SKMC	muscle:	n/a

(count:88 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
2	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
3	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
4	chr9:1049884..1051008-chr9:1336243..1337579,9	MCF-7	breast:
5	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
6	chr9:1376504..1378788-chr9:1379688..1382512,2	MCF-7	breast:
7	chr9:1050302..1051381-chr9:1211162..1212085,6	MCF-7	breast:
8	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
9	chr9:1196784..1199122-chr9:1220785..1223370,2	MCF-7	breast:
10	chr9:1155504..1158028-chr9:1171284..1172916,2	MCF-7	breast:
11	chr9:1049962..1051601-chr9:1206448..1208602,2	MCF-7	breast:
12	chr9:1172064..1174566-chr9:1177825..1179718,2	MCF-7	breast:
13	chr9:1101941..1102561-chr9:1429407..1430134,2	MCF-7	breast:
14	chr9:1197110..1199229-chr9:1201325..1204281,3	MCF-7	breast:
15	chr9:613569..614095-chr9:1100690..1101615,2	MCF-7	breast:
16	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
17	chr9:1017795..1018400-chr9:1429068..1429992,2	MCF-7	breast:
18	chr9:1017784..1019327-chr9:1158625..1160475,2	MCF-7	breast:
19	chr9:1463195..1465097-chr9:1468058..1470697,2	MCF-7	breast:
20	chr9:1453549..1456481-chr9:1457480..1459717,2	K562	blood:
21	chr9:1017910..1018696-chr9:1429132..1429802,2	MCF-7	breast:
22	chr9:1050662..1052458-chr9:1210912..1212810,2	MCF-7	breast:
23	chr9:1199075..1201039-chr9:1246978..1249972,2	K562	blood:
24	chr9:1049884..1050964-chr9:1336243..1337456,4	MCF-7	breast:
25	chr9:1050560..1053222-chr9:1082736..1084655,2	MCF-7	breast:
26	chr9:1156903..1158809-chr9:1163538..1165114,2	MCF-7	breast:
27	chr9:1414222..1417184-chr9:1419869..1422079,2	K562	blood:
28	chr9:1329896..1332390-chr9:1334019..1336447,2	MCF-7	breast:
29	chr9:1100620..1101481-chr9:1337009..1337893,4	MCF-7	breast:
30	chr9:1459863..1460905-chr9:1619604..1620748,6	MCF-7	breast:
31	chr9:1459777..1461278-chr9:1604683..1605512,7	MCF-7	breast:
32	chr9:1156562..1162179-chr9:1163960..1167701,5	MCF-7	breast:
33	chr9:1100633..1101579-chr9:1428962..1429946,8	MCF-7	breast:
34	chr9:1454281..1457237-chr9:1457484..1459959,2	MCF-7	breast:
35	chr9:1048591..1051547-chr9:1195558..1198367,2	MCF-7	breast:
36	chr9:1048644..1051362-chr9:1182528..1184402,2	MCF-7	breast:
37	chr9:1207734..1210015-chr9:1211203..1213257,2	MCF-7	breast:
38	chr9:1048582..1050101-chr9:1206689..1209470,2	MCF-7	breast:
39	chr9:1050169..1051008-chr9:1198034..1198952,5	MCF-7	breast:
40	chr9:1049307..1051830-chr9:1209993..1212929,2	MCF-7	breast:
41	chr9:1315772..1318545-chr9:1320375..1322632,2	K562	blood:
42	chr9:1100954..1101519-chr9:1619985..1620571,2	MCF-7	breast:
43	chr9:1459862..1460804-chr9:1527712..1529112,4	MCF-7	breast:
44	chr9:1196174..1202144-chr9:1204882..1208508,8	MCF-7	breast:
45	chr9:1052914..1055179-chr9:1057328..1059620,2	MCF-7	breast:
46	chr9:1492000..1494748-chr9:1498884..1501267,2	MCF-7	breast:
47	chr9:1017828..1018465-chr9:1337011..1337699,2	MCF-7	breast:
48	chr9:1120059..1122097-chr9:1123938..1125710,2	K562	blood:
49	chr9:1167206..1169983-chr9:1171593..1173584,2	MCF-7	breast:
50	chr9:1058546..1060876-chr9:1062329..1064196,2	MCF-7	breast:

(count:41 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
2	lnc-DMRT2-4	chr9:1289314-1289412	l_3725_chr9:1288276-1302899_breast
3	lnc-DMRT2-2	chr9:1321457-1321494	XLOC_007263
4	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
5	lnc-DMRT2-2	chr9:1298286-1298431	XLOC_007263
6	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
7	lnc-DMRT2-2	chr9:1321456-1321494	NONHSAT129967
8	lnc-DMRT2-2	chr9:1327073-1327173	NONHSAT129967
9	lnc-DMRT2-2	chr9:1328425-1328584	XLOC_007263
10	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
11	lnc-DMRT2-4	chr9:1300940-1301032	l_3725_chr9:1288276-1302899_breast
12	lnc-DMRT2-2	chr9:1310939-1311032	NONHSAT129967
13	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
14	lnc-DMRT2-5	chr9:1328664-1328987	NONHSAT129974
15	lnc-DMRT2-2	chr9:1312840-1312899	NONHSAT129967
16	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
17	lnc-DMRT2-6	chr9:1368147-1368400	NONHSAT129976
18	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
19	lnc-DMRT2-2	chr9:1312841-1312899	XLOC_007263
20	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
21	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
22	lnc-DMRT2-2	chr9:1298276-1298431	NONHSAT129967
23	lnc-DMRT2-2	chr9:1327074-1327173	XLOC_007263
24	lnc-DMRT2-2	chr9:1299313-1299412	NONHSAT129967
25	lnc-DMRT2-6	chr9:1354235-1354272	NONHSAT129976
26	lnc-C9orf66-12	chr9:1151807-1152140	NONHSAT129965
27	lnc-DMRT2-4	chr9:1317074-1317173	l_3725_chr9:1288276-1302899_breast
28	lnc-DMRT2-2	chr9:1328424-1328584	NONHSAT129967
29	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
30	lnc-DMRT2-2	chr9:1321457-1321494	XLOC_007263
31	lnc-DMRT2-4	chr9:1302841-1302899	l_3725_chr9:1288276-1302899_breast
32	lnc-C9orf66-13	chr9:1164414-1164867	NONHSAT129966
33	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
34	lnc-DMRT2-2	chr9:1298277-1298431	XLOC_007263
35	lnc-DMRT2-2	chr9:1312841-1312897	XLOC_007263
36	lnc-DMRT2-2	chr9:1299314-1299412	XLOC_007263
37	lnc-DMRT2-4	chr9:1318425-1318584	l_3725_chr9:1288276-1302899_breast
38	lnc-DMRT2-2	chr9:1310940-1311032	XLOC_007263
39	lnc-DMRT2-2	chr9:1328425-1328435	XLOC_007263
40	lnc-DMRT2-2	chr9:1327074-1327173	XLOC_007263
41	lnc-DMRT2-4	chr9:1288277-1288431	l_3725_chr9:1288276-1302899_breast

No data

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

Extended variants
information (count: 17515 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:17515 , 50 per page) page: 1 2 3 4 5 6 7 ... 351

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558007663	chr9:1055349-1055350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs577876731	chr9:1055383-1055384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188472874	chr9:1055406-1055407	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377019783	chr9:1055430-1055431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs370543885	chr9:1055442-1055443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs375346065	chr9:1055443-1055444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs571727649	chr9:1055465-1055466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553580837	chr9:1055475-1055476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149858357	chr9:1055481-1055482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs542753890	chr9:1055490-1055491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs562851328	chr9:1055491-1055492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs1509202	chr9:1055533-1055534	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs34189983	chr9:1055545-1055546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398113140	chr9:1055554-1055555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545089204	chr9:1055561-1055562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs570240463	chr9:1055566-1055567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565555537	chr9:1055612-1055613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528018527	chr9:1055622-1055623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs144855636	chr9:1055631-1055632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs567898162	chr9:1055655-1055656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537878305	chr9:1055660-1055661	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530324849	chr9:1055666-1055667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371107724	chr9:1055679-1055680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549014161	chr9:1055680-1055681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568883963	chr9:1055681-1055682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562571430	chr9:1055724-1055725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112564390	chr9:1055746-1055747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567611497	chr9:1055789-1055790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs200747181	chr9:1055802-1055803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs6474554	chr9:1055833-1055834	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78320923	chr9:1055846-1055847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs12350001	chr9:1055870-1055871	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs533882403	chr9:1055884-1055885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs553542064	chr9:1055892-1055893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs375024785	chr9:1055964-1055965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs57558840	chr9:1055975-1055976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs542434676	chr9:1056050-1056051	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs115628248	chr9:1056052-1056053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs576494807	chr9:1056075-1056076	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs545363391	chr9:1056077-1056078	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7854435	chr9:1056101-1056102	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs527977472	chr9:1056103-1056104	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541703034	chr9:1056135-1056136	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139750292	chr9:1056140-1056141	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530290818	chr9:1056154-1056155	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566760422	chr9:1056169-1056170	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs73639841	chr9:1056172-1056173	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200344245	chr9:1056173-1056174	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368061891	chr9:1056176-1056177	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs371620803	chr9:1056179-1056180	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:798 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:1054000-1056800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:1054200-1058800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:1054600-1056000	Weak transcription	Adipose Nuclei	Adipose
4	chr9:1054600-1056200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr9:1054600-1056200	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:1055000-1055400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:1055200-1059200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:1055400-1057400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr9:1056000-1057200	Strong transcription	Adipose Nuclei	Adipose
10	chr9:1056200-1056600	Strong transcription	Fetal Muscle Trunk	muscle
11	chr9:1056200-1057000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr9:1056400-1059000	Enhancers	Brain Hippocampus Middle	brain
13	chr9:1056400-1059400	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:1056600-1057000	Genic enhancers	Fetal Muscle Trunk	muscle
15	chr9:1056600-1057200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
16	chr9:1056800-1057000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:1056800-1057200	Bivalent Enhancer	Brain Angular Gyrus	brain
18	chr9:1056800-1058600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr9:1056800-1058800	Enhancers	Brain Substantia Nigra	brain
20	chr9:1057000-1057600	Strong transcription	Fetal Muscle Leg	muscle
21	chr9:1057000-1058200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr9:1057200-1058800	Weak transcription	Adipose Nuclei	Adipose
23	chr9:1057200-1058800	Enhancers	Brain Cingulate Gyrus	brain
24	chr9:1057400-1058800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr9:1057600-1058000	Weak transcription	Fetal Muscle Leg	muscle
26	chr9:1058000-1058400	Genic enhancers	Fetal Muscle Leg	muscle
27	chr9:1058200-1058400	Genic enhancers	Fetal Muscle Trunk	muscle
28	chr9:1058200-1059200	Enhancers	Brain Angular Gyrus	brain
29	chr9:1058400-1063400	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:1058400-1065600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:1058800-1059000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:1058800-1059400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:1058800-1059400	Enhancers	Adipose Nuclei	Adipose
34	chr9:1059000-1059200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr9:1059200-1059400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:1059400-1059800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr9:1063400-1063800	Enhancers	Fetal Muscle Leg	muscle
38	chr9:1063800-1064800	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:1065000-1065200	Enhancers	Fetal Muscle Leg	muscle
40	chr9:1065600-1065800	Enhancers	Fetal Muscle Trunk	muscle
41	chr9:1071000-1072000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr9:1072000-1072400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 29	rectum
44	chr9:1072400-1072600	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr9:1082600-1082800	Enhancers	NHDF-Ad	bronchial
46	chr9:1082800-1083000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr9:1082800-1084000	Active TSS	NHDF-Ad	bronchial
48	chr9:1083000-1083200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr9:1083000-1083200	Enhancers	Brain Hippocampus Middle	brain
50	chr9:1083000-1083400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links