Variant report

Variant	nsv912595
Chromosome Location	chr20:1283523-1313762
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1363)
CpG islands
(count:1831)
Chromatin interactive
region (count:50)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1363 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:1284914-1285109	K562	blood:	n/a	n/a
2	ARID3A	chr20:1308755-1309092	HepG2	liver:	n/a	n/a
3	ARID3A	chr20:1305748-1306871	HepG2	liver:	n/a	n/a
4	ATF1	chr20:1305841-1306840	K562	blood:	n/a	n/a
5	ATF2	chr20:1306044-1306640	GM12878	blood:	n/a	chr20:1306442-1306453
6	ATF2	chr20:1305892-1306626	H1-hESC	embryonic stem cell:	n/a	chr20:1306442-1306453
7	ATF2	chr20:1305551-1306690	GM12878	blood:	n/a	chr20:1306442-1306453
8	ATF2	chr20:1305850-1306645	H1-hESC	embryonic stem cell:	n/a	chr20:1306442-1306453
9	ATF3	chr20:1289968-1290275	H1-hESC	embryonic stem cell:	n/a	n/a
10	ATF3	chr20:1305566-1306292	A549	lung:	n/a	n/a
11	ATF3	chr20:1305643-1306300	A549	lung:	n/a	n/a
12	ATF3	chr20:1305718-1306640	K562	blood:	n/a	chr20:1306443-1306463 chr20:1306440-1306455 chr20:1306444-1306455 chr20:1306443-1306451 chr20:1306444-1306452 chr20:1306441-1306454 chr20:1306442-1306453 chr20:1306443-1306454 chr20:1306441-1306454 chr20:1306444-1306451
13	BACH1	chr20:1289999-1290199	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr20:1294067-1294472	H1-hESC	embryonic stem cell:	n/a	n/a
15	BACH1	chr20:1305817-1306412	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr20:1305586-1306169	GM12878	blood:	n/a	chr20:1305864-1305873
17	BATF	chr20:1305643-1305965	GM12878	blood:	n/a	chr20:1305864-1305873
18	BATF	chr20:1306318-1306809	GM12878	blood:	n/a	chr20:1306441-1306454
19	BCL3	chr20:1305651-1306734	A549	lung:	n/a	chr20:1305898-1305907
20	BCL3	chr20:1305542-1307149	A549	lung:	n/a	chr20:1305898-1305907
21	BCLAF1	chr20:1305974-1306653	GM12878	blood:	n/a	n/a
22	BHLHE40	chr20:1294195-1294496	K562	blood:	n/a	n/a
23	BHLHE40	chr20:1285433-1285717	K562	blood:	n/a	n/a
24	BHLHE40	chr20:1294180-1294466	GM12878	blood:	n/a	n/a
25	BHLHE40	chr20:1310680-1311152	GM12878	blood:	n/a	n/a
26	BHLHE40	chr20:1305745-1306572	GM12878	blood:	n/a	n/a
27	BHLHE40	chr20:1305791-1306716	K562	blood:	n/a	n/a
28	BRCA1	chr20:1305862-1306521	HepG2	liver:	n/a	n/a
29	BRCA1	chr20:1294333-1294360	GM12878	blood:	n/a	n/a
30	BRCA1	chr20:1305682-1306677	Hela-S3	cervix:	n/a	n/a
31	BRCA1	chr20:1306337-1306493	GM12878	blood:	n/a	n/a
32	BRCA1	chr20:1305542-1306105	GM12878	blood:	n/a	n/a
33	BRCA1	chr20:1294316-1294516	HepG2	liver:	n/a	n/a
34	BRCA1	chr20:1298616-1298665	HepG2	liver:	n/a	n/a
35	BRCA1	chr20:1308733-1309124	HepG2	liver:	n/a	n/a
36	CCNT2	chr20:1305878-1306329	K562	blood:	n/a	n/a
37	CEBPB	chr20:1300513-1300584	HepG2	liver:	n/a	n/a
38	CEBPB	chr20:1305766-1306658	HepG2	liver:	n/a	n/a
39	CEBPB	chr20:1303449-1303940	IMR90	lung:	n/a	n/a
40	CEBPB	chr20:1308913-1309011	HepG2	liver:	n/a	n/a
41	CEBPB	chr20:1306229-1306621	K562	blood:	n/a	n/a
42	CEBPB	chr20:1294202-1294446	H1-hESC	embryonic stem cell:	n/a	n/a
43	CEBPB	chr20:1305764-1306844	HepG2	liver:	n/a	n/a
44	CEBPB	chr20:1305775-1306497	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr20:1305708-1306636	Hela-S3	cervix:	n/a	n/a
46	CEBPB	chr20:1305255-1306614	IMR90	lung:	n/a	n/a
47	CEBPB	chr20:1305687-1306621	A549	lung:	n/a	n/a
48	CEBPB	chr20:1308163-1308501	IMR90	lung:	n/a	chr20:1308346-1308357
49	CEBPB	chr20:1306244-1306518	HepG2	liver:	n/a	n/a
50	CEBPB	chr20:1312139-1312238	K562	blood:	n/a	n/a

(count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1309722-1309772	AG04449	skin:	fetal
2	chr20:1309722-1309772	AG04449	skin:	fetal
3	chr20:1293682-1293732	HEK293	kidney:	embryo
4	chr20:1294376-1294426	NT2-D1	testis:	n/a
5	chr20:1297651-1297701	HRPEpiC	eye:	n/a
6	chr20:1289571-1289621	PANC-1	pancreas:	n/a
7	chr20:1306048-1306098	H1-hESC	embryonic stem cell:	embryo
8	chr20:1294313-1294363	ECC-1	luminal epithelium:	n/a
9	chr20:1304919-1304969	MCF10A-Er-Src	breast:	n/a
10	chr20:1306058-1306108	HPAEpiC	pulmonary alveolar:	n/a
11	chr20:1287050-1287100	HMEC	breast:	n/a
12	chr20:1294858-1294908	PFSK-1	brain:	n/a
13	chr20:1294311-1294361	HAEpiC	amniotic membrane:	n/a
14	chr20:1306048-1306098	BE2_C	brain:	n/a
15	chr20:1290724-1290774	SAEC	small airway:	n/a
16	chr20:1297651-1297701	A549	lung:	n/a
17	chr20:1310425-1310475	NB4	blood:	n/a
18	chr20:1286558-1286608	GM19239	blood:	n/a
19	chr20:1285816-1285866	AG04449	skin:	fetal
20	chr20:1293560-1293610	ECC-1	luminal epithelium:	n/a
21	chr20:1310884-1310934	HIPEpiC	eye:	n/a
22	chr20:1303672-1303722	K562	blood:	n/a
23	chr20:1297651-1297701	IMR90	lung:	fetal
24	chr20:1294361-1294411	HCM	heart:	n/a
25	chr20:1306058-1306108	BE2_C	brain:	n/a
26	chr20:1287050-1287100	HEK293	kidney:	embryo
27	chr20:1310425-1310475	PFSK-1	brain:	n/a
28	chr20:1310884-1310934	Hepatocyte	liver:	n/a
29	chr20:1289571-1289621	HRE	kidney:	n/a
30	chr20:1294361-1294411	AG09319	gingival:	n/a
31	chr20:1310000-1310050	HepG2	liver:	n/a
32	chr20:1309800-1309850	HepG2	liver:	n/a
33	chr20:1294361-1294411	Caco-2	colon:	n/a
34	chr20:1294858-1294908	Hepatocyte	liver:	n/a
35	chr20:1287050-1287100	H1-hESC	embryonic stem cell:	embryo
36	chr20:1294376-1294426	MCF-7	breast:	n/a
37	chr20:1306553-1306603	AG09319	gingival:	n/a
38	chr20:1294361-1294411	ProgFib	skin:	n/a
39	chr20:1309722-1309772	HCPEpiC	choroid plexus:	n/a
40	chr20:1306553-1306603	HMEC	breast:	n/a
41	chr20:1285816-1285866	HRE	kidney:	n/a
42	chr20:1293560-1293610	SAEC	small airway:	n/a
43	chr20:1294361-1294411	HCPEpiC	choroid plexus:	n/a
44	chr20:1310425-1310475	ovcar-3	ovarian:	n/a
45	chr20:1294376-1294426	HCPEpiC	choroid plexus:	n/a
46	chr20:1306058-1306108	NB4	blood:	n/a
47	chr20:1306618-1306668	NB4	blood:	n/a
48	chr20:1310425-1310475	IMR90	lung:	fetal
49	chr20:1294301-1294351	MCF10A-Er-Src	breast:	n/a
50	chr20:1297651-1297701	BE2_C	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr20:1303741..1307612-chr20:1308466..1314134,7	MCF-7	breast:
2	chr20:1293745..1297831-chr20:1304825..1308186,3	MCF-7	breast:
3	chr20:1292210..1295153-chr20:1372716..1374404,2	MCF-7	breast:
4	chr20:1293745..1297831-chr20:1304825..1308186,3	MCF-7	breast:
5	chr20:1285641..1287786-chr20:1289716..1291902,2	K562	blood:
6	chr20:1298486..1301392-chr20:1305931..1307465,3	MCF-7	breast:
7	chr20:1311744..1314670-chr20:1315786..1318493,2	MCF-7	breast:
8	chr20:1313519..1315747-chr20:1323872..1325859,2	MCF-7	breast:
9	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
10	chr20:1299694..1302463-chr20:1372805..1375416,2	MCF-7	breast:
11	chr20:1303741..1307612-chr20:1308466..1314134,7	MCF-7	breast:
12	chr1:74663449..74664076-chr20:1306022..1306565,2	Hela-S3	cervix:
13	chr20:1304993..1307538-chr20:1372329..1375555,3	K562	blood:
14	chr20:1307820..1310838-chr20:1317476..1319823,3	K562	blood:
15	chr20:1306989..1309625-chr20:1321543..1324213,2	MCF-7	breast:
16	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
17	chr20:1304778..1307427-chr20:1340796..1343484,2	MCF-7	breast:
18	chr20:1304840..1306676-chr20:1447020..1448985,3	K562	blood:
19	chr1:144533721..144534707-chr20:1305699..1306434,2	Hela-S3	cervix:
20	chr20:1306609..1308717-chr20:1373062..1375701,3	MCF-7	breast:
21	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
22	chr20:1304802..1306407-chr20:1313122..1314784,2	MCF-7	breast:
23	chr20:1306581..1308202-chr20:1321732..1323458,2	K562	blood:
24	chr20:1307620..1309289-chr20:1370365..1373331,2	K562	blood:
25	chr20:1205252..1207423-chr20:1288622..1291157,2	K562	blood:
26	chr20:1268133..1270306-chr20:1306878..1308946,2	MCF-7	breast:
27	chr20:1305846..1306439-chr7:45039230..45040035,2	Hela-S3	cervix:
28	chr20:1301486..1304353-chr20:1304834..1307376,4	MCF-7	breast:
29	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
30	chr20:1304611..1307577-chr20:1447050..1450049,5	K562	blood:
31	chr20:1304653..1308515-chr20:1369739..1375969,7	MCF-7	breast:
32	chr20:1310039..1313013-chr20:1319417..1322012,2	MCF-7	breast:
33	chr20:1205295..1208138-chr20:1282456..1285112,2	K562	blood:
34	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
35	chr20:632399..634188-chr20:1304900..1306599,2	K562	blood:
36	chr20:1306070..1308541-chr20:1446001..1448028,2	MCF-7	breast:
37	chr20:1304623..1306513-chr20:1372561..1374611,3	MCF-7	breast:
38	chr20:1311170..1313178-chr20:1375067..1377982,2	MCF-7	breast:
39	chr20:1281423..1283535-chr20:1306063..1308157,2	K562	blood:
40	chr20:1206586..1208814-chr20:1304748..1306483,2	K562	blood:
41	chr20:1307748..1310698-chr20:1356609..1358929,2	K562	blood:
42	chr20:1286013..1291003-chr20:1304965..1309000,4	K562	blood:
43	chr20:1302236..1304059-chr20:1373953..1376855,2	MCF-7	breast:
44	chr20:1309326..1311683-chr20:1317369..1320859,3	MCF-7	breast:
45	chr20:1296607..1299079-chr20:1367748..1369670,2	K562	blood:
46	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:
47	chr20:1303470..1306346-chr20:1351219..1354077,2	MCF-7	breast:
48	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:
49	chr20:1296232..1299079-chr20:1367748..1370124,3	K562	blood:
50	chr20:1310189..1311997-chr20:1314145..1316733,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNPH-3	chr20:1291041-1291229	NONHSAT078097
2	lnc-SNPH-3	chr20:1290266-1290556	NONHSAT078097

No data

Variant related genes	Relation type
SDCBP2	TF binding region
SDCBP2-AS1	TF binding region
SDCBP2	CpG island
SDCBP2-AS1	CpG island
ENSG00000116783	chromatin interactions
ENSG00000234684	chromatin interactions
ENSG00000254685	chromatin interactions
ENSG00000088833	chromatin interactions
ENSG00000203630	chromatin interactions
ENSG00000162620	chromatin interactions
ENSG00000271303	chromatin interactions
ENSG00000125775	chromatin interactions
ENSG00000136280	chromatin interactions
ENSG00000229728	chromatin interactions
ENSG00000201699	chromatin interactions
ENSG00000244588	chromatin interactions
ENSG00000088832	chromatin interactions
ENSG00000259030	chromatin interactions

Extended variants
information (count: 1292 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:1292 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7354385	chr20:1283523-1283524	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs570464307	chr20:1283549-1283550	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565976147	chr20:1283560-1283561	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs78239680	chr20:1283611-1283612	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs557958941	chr20:1283657-1283658	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs12624336	chr20:1283682-1283683	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs543607395	chr20:1283755-1283756	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542719811	chr20:1283768-1283769	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs184697981	chr20:1283785-1283786	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs542615359	chr20:1283788-1283789	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs559074754	chr20:1283816-1283817	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs528033659	chr20:1283937-1283938	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs140474998	chr20:1283940-1283941	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs8125418	chr20:1283985-1283986	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs79723411	chr20:1284062-1284063	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs545271097	chr20:1284092-1284093	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs549937520	chr20:1284118-1284119	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs563444973	chr20:1284140-1284141	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs565268123	chr20:1284141-1284142	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144917220	chr20:1284236-1284237	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549399253	chr20:1284246-1284247	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs528119793	chr20:1284252-1284253	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs144865645	chr20:1284253-1284254	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs565938138	chr20:1284266-1284267	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs11906749	chr20:1284273-1284274	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs551714457	chr20:1284275-1284276	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs571538496	chr20:1284328-1284329	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs78602328	chr20:1284345-1284346	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs138746370	chr20:1284409-1284410	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371250381	chr20:1284410-1284411	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs75971998	chr20:1284455-1284456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs76077319	chr20:1284461-1284462	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs188676544	chr20:1284462-1284463	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552963221	chr20:1284486-1284487	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs572736910	chr20:1284502-1284503	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181295464	chr20:1284528-1284529	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs4814089	chr20:1284579-1284580	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs577869085	chr20:1284603-1284604	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543617819	chr20:1284638-1284639	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs568450062	chr20:1284645-1284646	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs529436923	chr20:1284649-1284650	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs376801076	chr20:1284687-1284688	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs143556506	chr20:1284694-1284695	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs559763111	chr20:1284698-1284699	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs189507372	chr20:1284699-1284700	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs551753191	chr20:1284741-1284742	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs571572684	chr20:1284746-1284747	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs537330464	chr20:1284768-1284769	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs148022091	chr20:1284771-1284772	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs567325458	chr20:1284773-1284774	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	17363583	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1646 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
2	chr20:1266400-1284800	Weak transcription	Brain Germinal Matrix	brain
3	chr20:1269200-1283600	Weak transcription	Right Ventricle	heart
4	chr20:1272200-1285400	Weak transcription	Adipose Nuclei	Adipose
5	chr20:1272200-1285400	Weak transcription	Left Ventricle	heart
6	chr20:1272200-1286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:1272400-1285800	Weak transcription	Fetal Muscle Leg	muscle
8	chr20:1272600-1294000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr20:1273000-1294000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr20:1274800-1288200	Weak transcription	Fetal Intestine Small	intestine
11	chr20:1275000-1289400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr20:1275400-1284000	Weak transcription	Pancreas	Pancrea
13	chr20:1275800-1285400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:1275800-1293800	Weak transcription	Brain Substantia Nigra	brain
15	chr20:1276600-1289800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr20:1278200-1294000	Weak transcription	Colon Smooth Muscle	Colon
17	chr20:1278800-1283600	Weak transcription	Fetal Brain Female	brain
18	chr20:1280600-1294000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr20:1281400-1289800	Weak transcription	Colonic Mucosa	Colon
20	chr20:1281600-1285600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr20:1281600-1285600	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr20:1281600-1285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr20:1281600-1290000	Weak transcription	Brain Hippocampus Middle	brain
24	chr20:1281800-1283600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr20:1281800-1283600	Weak transcription	Gastric	stomach
26	chr20:1281800-1285200	Weak transcription	Lung	lung
27	chr20:1281800-1294000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr20:1282000-1283600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr20:1282000-1283600	Weak transcription	HSMM	muscle
30	chr20:1282000-1283800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr20:1282000-1284000	Weak transcription	Brain Anterior Caudate	brain
32	chr20:1282000-1284600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr20:1282000-1284600	Weak transcription	Fetal Stomach	stomach
34	chr20:1282000-1285800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:1282000-1285800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr20:1282000-1289000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr20:1282000-1293800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr20:1282000-1293800	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr20:1282000-1294000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr20:1282000-1294400	Weak transcription	Stomach Mucosa	stomach
41	chr20:1282000-1298200	Weak transcription	A549	lung
42	chr20:1282200-1283600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr20:1282200-1283600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr20:1282200-1284200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr20:1282200-1284400	Weak transcription	K562	blood
46	chr20:1282200-1285000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr20:1282200-1285000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr20:1282200-1285400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr20:1282200-1285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr20:1282200-1285400	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links