Variant report

Variant	nsv1041799
Chromosome Location	chr12:1091294-1304839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2240)
CpG islands
(count:1407)
Chromatin interactive
region (count:102)
LncRNA
region (count:13)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2240 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:1227196-1227459	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:1287927-1287979	K562	blood:	n/a	n/a
3	ARID3A	chr12:1163435-1164108	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:1099568-1100086	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:1239491-1239940	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:1239515-1239672	K562	blood:	n/a	n/a
7	ARID3A	chr12:1098866-1099224	K562	blood:	n/a	n/a
8	ARID3A	chr12:1099010-1099326	HepG2	liver:	n/a	n/a
9	ATF1	chr12:1239465-1239737	K562	blood:	n/a	n/a
10	ATF1	chr12:1179144-1179336	K562	blood:	n/a	n/a
11	ATF1	chr12:1280888-1281171	K562	blood:	n/a	n/a
12	ATF2	chr12:1099825-1100243	H1-hESC	embryonic stem cell:	n/a	n/a
13	ATF2	chr12:1107093-1107558	GM12878	blood:	n/a	n/a
14	ATF2	chr12:1208138-1208787	GM12878	blood:	n/a	n/a
15	ATF2	chr12:1189942-1190432	GM12878	blood:	n/a	n/a
16	ATF2	chr12:1208015-1208794	GM12878	blood:	n/a	n/a
17	ATF2	chr12:1189964-1190438	GM12878	blood:	n/a	n/a
18	ATF2	chr12:1107105-1107535	GM12878	blood:	n/a	n/a
19	ATF3	chr12:1099771-1100325	A549	lung:	n/a	n/a
20	ATF3	chr12:1099861-1100346	A549	lung:	n/a	n/a
21	BACH1	chr12:1192252-1192568	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr12:1099655-1100263	H1-hESC	embryonic stem cell:	n/a	n/a
23	BACH1	chr12:1100079-1100260	K562	blood:	n/a	n/a
24	BACH1	chr12:1100584-1100760	H1-hESC	embryonic stem cell:	n/a	n/a
25	BATF	chr12:1217501-1217717	GM12878	blood:	n/a	n/a
26	BATF	chr12:1189802-1190073	GM12878	blood:	n/a	n/a
27	BATF	chr12:1208381-1208673	GM12878	blood:	n/a	n/a
28	BATF	chr12:1208306-1208662	GM12878	blood:	n/a	n/a
29	BATF	chr12:1217437-1217773	GM12878	blood:	n/a	n/a
30	BATF	chr12:1212791-1213131	GM12878	blood:	n/a	chr12:1212980-1212991
31	BCL11A	chr12:1208360-1208704	GM12878	blood:	n/a	n/a
32	BCL11A	chr12:1189805-1190045	GM12878	blood:	n/a	n/a
33	BCL3	chr12:1150791-1151090	GM12878	blood:	n/a	n/a
34	BCL3	chr12:1099507-1100374	A549	lung:	n/a	chr12:1099902-1099915 chr12:1099641-1099649
35	BCL3	chr12:1189974-1190400	GM12878	blood:	n/a	n/a
36	BCL3	chr12:1208266-1208639	GM12878	blood:	n/a	n/a
37	BCL3	chr12:1099362-1100200	A549	lung:	n/a	chr12:1099902-1099915 chr12:1099641-1099649
38	BCL3	chr12:1150800-1150994	GM12878	blood:	n/a	n/a
39	BCLAF1	chr12:1107112-1107694	GM12878	blood:	n/a	n/a
40	BHLHE40	chr12:1099502-1100360	K562	blood:	n/a	n/a
41	BHLHE40	chr12:1099114-1099270	K562	blood:	n/a	n/a
42	BHLHE40	chr12:1163677-1163970	HepG2	liver:	n/a	n/a
43	BHLHE40	chr12:1099463-1100555	GM12878	blood:	n/a	n/a
44	BHLHE40	chr12:1107115-1107512	GM12878	blood:	n/a	n/a
45	BHLHE40	chr12:1099463-1100651	HepG2	liver:	n/a	n/a
46	BHLHE40	chr12:1193133-1193153	GM12878	blood:	n/a	n/a
47	BRCA1	chr12:1189702-1189919	GM12878	blood:	n/a	n/a
48	BRCA1	chr12:1099854-1100555	Hela-S3	cervix:	n/a	n/a
49	BRCA1	chr12:1227245-1227451	H1-hESC	embryonic stem cell:	n/a	n/a
50	BRCA1	chr12:1098735-1099563	Hela-S3	cervix:	n/a	n/a

(count:1407 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1192425-1192475	U87	brain:	n/a
2	chr12:1099075-1099125	SK-N-SH	brain:	n/a
3	chr12:1100009-1100059	BJ	skin:	n/a
4	chr12:1100377-1100427	HRE	kidney:	n/a
5	chr12:1192425-1192475	U87	brain:	n/a
6	chr12:1099075-1099125	SK-N-SH	brain:	n/a
7	chr12:1100009-1100059	BJ	skin:	n/a
8	chr12:1100377-1100427	HRE	kidney:	n/a
9	chr12:1137376-1137426	AG04449	skin:	fetal
10	chr12:1099075-1099125	HEK293	kidney:	embryo
11	chr12:1095972-1096022	HRCEpiC	kidney:	n/a
12	chr12:1301142-1301192	HEEpiC	esophagus:	n/a
13	chr12:1137376-1137426	PANC-1	pancreas:	n/a
14	chr12:1099823-1099873	AG09309	skin:	n/a
15	chr12:1100472-1100522	BE2_C	brain:	n/a
16	chr12:1100495-1100545	Hepatocyte	liver:	n/a
17	chr12:1100379-1100429	SAEC	small airway:	n/a
18	chr12:1100379-1100429	GM12892	blood:	n/a
19	chr12:1100379-1100429	IMR90	lung:	fetal
20	chr12:1099998-1100048	HUVEC	blood vessel:	n/a
21	chr12:1104452-1104502	HUVEC	blood vessel:	n/a
22	chr12:1157718-1157768	HL-60	blood:	n/a
23	chr12:1099823-1099873	MCF-7	breast:	n/a
24	chr12:1100385-1100435	PANC-1	pancreas:	n/a
25	chr12:1099823-1099873	HepG2	liver:	n/a
26	chr12:1100388-1100438	HIPEpiC	eye:	n/a
27	chr12:1099998-1100048	HRCEpiC	kidney:	n/a
28	chr12:1099985-1100035	HRCEpiC	kidney:	n/a
29	chr12:1099075-1099125	HCT-116	colon:	n/a
30	chr12:1192425-1192475	HCM	heart:	n/a
31	chr12:1157718-1157768	K562	blood:	n/a
32	chr12:1100009-1100059	SK-N-MC	brain:	n/a
33	chr12:1099823-1099873	ProgFib	skin:	n/a
34	chr12:1099998-1100048	PANC-1	pancreas:	n/a
35	chr12:1099998-1100048	CMK	blood:	n/a
36	chr12:1100379-1100429	NHDF-neo	bronchial:	n/a
37	chr12:1100377-1100427	NHDF-neo	bronchial:	n/a
38	chr12:1100388-1100438	GM06990	blood:	n/a
39	chr12:1210875-1210925	HCPEpiC	choroid plexus:	n/a
40	chr12:1098663-1098713	AG04450	lung:	fetal
41	chr12:1100472-1100522	NB4	blood:	n/a
42	chr12:1192425-1192475	SK-N-MC	brain:	n/a
43	chr12:1100388-1100438	HCM	heart:	n/a
44	chr12:1248758-1248808	T-47D	breast:	n/a
45	chr12:1099075-1099125	H1-hESC	embryonic stem cell:	embryo
46	chr12:1099998-1100048	AG10803	skin:	n/a
47	chr12:1100379-1100429	LNCaP	prostate:	n/a
48	chr12:1101044-1101094	HMEC	breast:	n/a
49	chr12:1100379-1100429	NT2-D1	testis:	n/a
50	chr12:1100385-1100435	SK-N-SH	brain:	n/a

(count:102 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr12:1226889..1227794-chr12:1691636..1693148,4	K562	blood:
2	chr12:1144079..1146307-chr12:1153317..1156042,2	MCF-7	breast:
3	chr1:28974934..28975528-chr12:1100894..1101513,2	Hela-S3	cervix:
4	chr12:1299686..1301198-chr12:1315494..1317236,2	K562	blood:
5	chr12:1098824..1101586-chr12:1103414..1105051,2	K562	blood:
6	chr12:1213022..1214727-chr12:1218938..1221274,2	K562	blood:
7	chr12:1099424..1099985-chr15:78857604..78858376,2	Hela-S3	cervix:
8	chr12:1227359..1229438-chr12:1651149..1653232,2	MCF-7	breast:
9	chr12:1161679..1164344-chr12:1168247..1169852,2	MCF-7	breast:
10	chr12:1057369..1058961-chr12:1099742..1102215,2	K562	blood:
11	chr12:1097166..1102781-chr12:1103327..1109862,10	MCF-7	breast:
12	chr12:1175408..1176101-chr12:1202225..1202957,2	MCF-7	breast:
13	chr12:1124432..1126227-chr12:1128822..1131462,2	K562	blood:
14	chr12:1097753..1102516-chr12:1157967..1161373,5	MCF-7	breast:
15	chr12:1226854..1227823-chr12:1692350..1693666,4	MCF-7	breast:
16	chr12:1100265..1100782-chr2:47168046..47168566,2	MCF-7	breast:
17	chr12:1191732..1194399-chr12:1201546..1203517,2	K562	blood:
18	chr12:1218934..1220880-chr12:1702638..1704337,2	MCF-7	breast:
19	chr12:1157626..1159829-chr12:1163516..1166184,2	K562	blood:
20	chr12:1215657..1217176-chr12:1696777..1699113,2	MCF-7	breast:
21	chr12:1094351..1097971-chr12:1098430..1101861,4	MCF-7	breast:
22	chr12:1098483..1100095-chr12:1136049..1138258,2	K562	blood:
23	chr12:1124432..1126227-chr12:1128822..1131462,2	K562	blood:
24	chr12:1207282..1210142-chr12:1212325..1214005,2	MCF-7	breast:
25	chr12:1105575..1107206-chr12:1112687..1115441,2	MCF-7	breast:
26	chr12:1238463..1240225-chr12:1243335..1244880,2	K562	blood:
27	chr12:1240349..1241936-chr12:1277021..1279132,2	K562	blood:
28	chr12:1099395..1101997-chr12:1116797..1119269,2	MCF-7	breast:
29	chr12:1098483..1100095-chr12:1136049..1138258,2	K562	blood:
30	chr12:1219719..1221721-chr12:1225249..1227124,3	K562	blood:
31	chr12:1058583..1059577-chr12:1202041..1202929,2	MCF-7	breast:
32	chr12:1102489..1104981-chr12:1121749..1123712,2	MCF-7	breast:
33	chr12:1115484..1118405-chr12:1144676..1146516,2	K562	blood:
34	chr10:91460746..91461718-chr12:1100060..1100607,2	HCT-116	colon:
35	chr12:1100058..1100987-chr16:89119009..89119720,2	Hela-S3	cervix:
36	chr1:149859365..149860018-chr12:1100150..1100668,2	Hela-S3	cervix:
37	chr12:1099506..1101542-chr12:1147987..1150794,2	MCF-7	breast:
38	chr12:1058588..1059583-chr12:1202386..1203064,3	K562	blood:
39	chr12:1152382..1155003-chr12:1155624..1158395,2	MCF-7	breast:
40	chr12:1124727..1126388-chr12:1127610..1130322,2	K562	blood:
41	chr12:1152891..1155598-chr12:1157921..1160119,2	MCF-7	breast:
42	chr12:1123645..1125467-chr12:1128602..1130622,2	MCF-7	breast:
43	chr12:1219719..1221721-chr12:1225249..1227124,3	K562	blood:
44	chr12:1105236..1108232-chr12:1119325..1121550,2	K562	blood:
45	chr12:1285165..1287754-chr12:1303919..1306724,2	K562	blood:
46	chr12:1087182..1091395-chr12:1098581..1101623,4	MCF-7	breast:
47	chr12:1058754..1060950-chr12:1097741..1100141,2	MCF-7	breast:
48	chr12:1057331..1059748-chr12:1192287..1193829,2	MCF-7	breast:
49	chr12:1161679..1164344-chr12:1168247..1169852,2	MCF-7	breast:
50	chr12:1144079..1146307-chr12:1153317..1156042,2	MCF-7	breast:

(count:13 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-WNK1-2	chr12:1119501-1119792	NONHSAT025383
2	lnc-NINJ2-2	chr12:1100217-1100356	ENSG00000250132.2
3	lnc-NINJ2-2	chr12:1100217-1100288	ENSG00000250132.2
4	lnc-NINJ2-2	chr12:1098975-1099207	ENSG00000250132
5	lnc-NINJ2-2	chr12:1099453-1099774	ENSG00000250132.2
6	lnc-RAD52-1	chr12:1162266-1162823	predAs_chen_BG198287_1
7	lnc-NINJ2-2	chr12:1098975-1099207	ENSG00000250132.2
8	lnc-NINJ2-2	chr12:1098975-1099207	ENSG00000250132.2
9	lnc-WNK1-3	chr12:1136914-1137008	NONHSAT025382
10	lnc-WNK1-3	chr12:1107488-1107648	NONHSAT025382
11	lnc-NINJ2-2	chr12:1099221-1100283	NONHSAT025381
12	lnc-NINJ2-2	chr12:1098975-1099207	ENSG00000250132.2
13	lnc-NINJ2-2	chr12:1099018-1099207	ENSG00000250132.2

No data

Variant related genes	Relation type
ERC1	TF binding region
RN7SL852P	TF binding region
ENSG00000250132	TF binding region
RAD52	TF binding region
ERC1	CpG island
RN7SL852P	CpG island
ENSG00000250132	CpG island
RAD52	CpG island
ENSG00000178096	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000118197	chromatin interactions
ENSG00000138182	chromatin interactions
ENSG00000148680	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000158402	chromatin interactions
ENSG00000087095	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000104936	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000185022	chromatin interactions
ENSG00000169684	chromatin interactions
ENSG00000171823	chromatin interactions
ENSG00000120709	chromatin interactions
ENSG00000250132	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000265997	chromatin interactions
ENSG00000256982	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000082805	chromatin interactions
SIRT1	miRNA target sites

Extended variants
information (count: 8444 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:8444 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577312627	chr12:1091297-1091298	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs373723348	chr12:1091348-1091349	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs199512844	chr12:1091375-1091376	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs200502676	chr12:1091376-1091377	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs559773011	chr12:1091377-1091378	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs563241701	chr12:1091403-1091404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75076277	chr12:1091426-1091427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs541934615	chr12:1091582-1091583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563514583	chr12:1091583-1091584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73031310	chr12:1091620-1091621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115975616	chr12:1091643-1091644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs10774480	chr12:1091657-1091658	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs183665173	chr12:1091668-1091669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs141356659	chr12:1091701-1091702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530463670	chr12:1091724-1091725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188141758	chr12:1091732-1091733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536522422	chr12:1091733-1091734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs550367633	chr12:1091738-1091739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143768441	chr12:1091762-1091763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572870561	chr12:1091819-1091820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373100195	chr12:1091822-1091823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386375368	chr12:1091823-1091824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386375369	chr12:1091841-1091842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs56063193	chr12:1091842-1091843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142503449	chr12:1091876-1091877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377448345	chr12:1091885-1091886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374513282	chr12:1091901-1091902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs559300038	chr12:1091958-1091959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs80298575	chr12:1091964-1091965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369073390	chr12:1091967-1091968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535331807	chr12:1092000-1092001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553430398	chr12:1092011-1092012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574724317	chr12:1092036-1092037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542332748	chr12:1092051-1092052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146816650	chr12:1092118-1092119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs575405918	chr12:1092119-1092120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191719341	chr12:1092131-1092132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367730145	chr12:1092147-1092148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140573086	chr12:1092160-1092161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145659657	chr12:1092181-1092182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561361355	chr12:1092198-1092199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60785559	chr12:1092220-1092221	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550651824	chr12:1092235-1092236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs141600179	chr12:1092259-1092260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568816420	chr12:1092260-1092261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59856957	chr12:1092262-1092263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539510204	chr12:1092278-1092279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548924196	chr12:1092312-1092313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs7309581	chr12:1092351-1092352	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs78373047	chr12:1092356-1092357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:4063 , 50 per page) page: 1 2 3 4 5 6 7 ... 82

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1068000-1097600	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:1068000-1098600	Weak transcription	Aorta	Aorta
3	chr12:1072800-1097800	Weak transcription	Pancreas	Pancrea
4	chr12:1073200-1099600	Weak transcription	Gastric	stomach
5	chr12:1074200-1097200	Weak transcription	Fetal Stomach	stomach
6	chr12:1076200-1097600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:1076400-1097600	Weak transcription	Brain Angular Gyrus	brain
8	chr12:1076400-1097600	Weak transcription	Fetal Intestine Small	intestine
9	chr12:1077600-1097600	Weak transcription	Fetal Brain Male	brain
10	chr12:1077800-1097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:1078000-1097200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:1078000-1097600	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:1078000-1097600	Weak transcription	Fetal Brain Female	brain
14	chr12:1078000-1099000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:1078400-1097600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:1079200-1097600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:1081400-1097400	Weak transcription	Fetal Lung	lung
18	chr12:1081600-1097600	Weak transcription	Brain Cingulate Gyrus	brain
19	chr12:1081600-1097600	Weak transcription	Ovary	ovary
20	chr12:1081600-1099600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:1081800-1095400	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:1082600-1099000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:1083800-1097600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr12:1084400-1097200	Weak transcription	Thymus	Thymus
25	chr12:1084400-1097800	Weak transcription	HSMM	muscle
26	chr12:1085000-1097600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:1085000-1097600	Weak transcription	Hela-S3	cervix
28	chr12:1086600-1094800	Weak transcription	Fetal Muscle Leg	muscle
29	chr12:1086600-1097200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:1086600-1097600	Weak transcription	Brain Anterior Caudate	brain
31	chr12:1086600-1097600	Weak transcription	Left Ventricle	heart
32	chr12:1086600-1097600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr12:1087600-1097600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:1089000-1097200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:1089600-1097600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:1090000-1091400	Enhancers	HUVEC	blood vessel
37	chr12:1090000-1091400	Enhancers	NH-A	brain
38	chr12:1090400-1091400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr12:1090400-1097800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr12:1090600-1091800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:1090600-1091800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr12:1090600-1097600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr12:1090800-1097800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:1090800-1097800	Weak transcription	NHEK	skin
45	chr12:1091000-1091400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:1091000-1091400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr12:1091000-1091400	Enhancers	Adipose Nuclei	Adipose
48	chr12:1091000-1091400	Enhancers	NHDF-Ad	bronchial
49	chr12:1091000-1091800	Enhancers	K562	blood
50	chr12:1091400-1092800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links