Variant report

Variant	nsv1067393
Chromosome Location	chr20:1254805-1302796
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	ATF1	chr20:1281704-1281915	K562	blood:	n/a	n/a
3	ATF3	chr20:1289968-1290275	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr20:1280316-1280385	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr20:1289999-1290199	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr20:1294067-1294472	H1-hESC	embryonic stem cell:	n/a	n/a
7	BHLHE40	chr20:1294195-1294496	K562	blood:	n/a	n/a
8	BHLHE40	chr20:1294180-1294466	GM12878	blood:	n/a	n/a
9	BHLHE40	chr20:1285433-1285717	K562	blood:	n/a	n/a
10	BHLHE40	chr20:1280237-1280483	K562	blood:	n/a	n/a
11	BRCA1	chr20:1294316-1294516	HepG2	liver:	n/a	n/a
12	BRCA1	chr20:1298616-1298665	HepG2	liver:	n/a	n/a
13	BRCA1	chr20:1294333-1294360	GM12878	blood:	n/a	n/a
14	CEBPB	chr20:1271980-1272470	IMR90	lung:	n/a	n/a
15	CEBPB	chr20:1294202-1294446	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr20:1266754-1266770	H1-hESC	embryonic stem cell:	n/a	n/a
17	CEBPB	chr20:1300513-1300584	HepG2	liver:	n/a	n/a
18	CHD1	chr20:1294308-1294363	GM12878	blood:	n/a	n/a
19	CHD1	chr20:1294284-1294436	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr20:1291122-1291228	HepG2	liver:	n/a	n/a
21	CHD2	chr20:1294106-1294254	HepG2	liver:	n/a	n/a
22	CHD2	chr20:1294131-1294336	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr20:1294008-1294452	H1-hESC	embryonic stem cell:	n/a	n/a
24	CHD2	chr20:1290127-1290213	H1-hESC	embryonic stem cell:	n/a	n/a
25	CHD2	chr20:1280276-1280452	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr20:1294260-1294410	AoAF	blood vessel:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
27	CTCF	chr20:1280240-1280390	AG04449	skin:	n/a	n/a
28	CTCF	chr20:1294073-1294527	Spleen_OC	spleen:	n/a	chr20:1294318-1294328 chr20:1294149-1294162 chr20:1294315-1294336 chr20:1294151-1294161 chr20:1294314-1294330 chr20:1294146-1294164 chr20:1294316-1294325 chr20:1294313-1294331
29	CTCF	chr20:1294200-1294350	HFF-Myc	foreskin:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
30	CTCF	chr20:1294260-1294410	GM06990	blood:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
31	CTCF	chr20:1294280-1294430	HEK293	kidney:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
32	CTCF	chr20:1290000-1290150	GM12869	blood:	n/a	n/a
33	CTCF	chr20:1293960-1294471	GM12878	blood:	n/a	chr20:1294318-1294328 chr20:1294149-1294162 chr20:1294315-1294336 chr20:1294151-1294161 chr20:1294314-1294330 chr20:1294146-1294164 chr20:1294316-1294325 chr20:1294313-1294331
34	CTCF	chr20:1280360-1280510	GM12878	blood:	n/a	n/a
35	CTCF	chr20:1280238-1280464	MCF-7	breast:	n/a	n/a
36	CTCF	chr20:1293662-1293730	GM19238	blood:	n/a	n/a
37	CTCF	chr20:1290116-1290225	Fibrobl	skin:	n/a	chr20:1290141-1290162 chr20:1290146-1290164
38	CTCF	chr20:1294240-1294390	HRE	kidney:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
39	CTCF	chr20:1280240-1280390	HEK293	kidney:	n/a	n/a
40	CTCF	chr20:1294176-1294491	Medullo	brain:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
41	CTCF	chr20:1280240-1280390	GM12864	blood:	n/a	n/a
42	CTCF	chr20:1294280-1294430	K562	blood:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
43	CTCF	chr20:1294136-1294445	GM19239	blood:	n/a	chr20:1294318-1294328 chr20:1294149-1294162 chr20:1294315-1294336 chr20:1294151-1294161 chr20:1294314-1294330 chr20:1294146-1294164 chr20:1294316-1294325 chr20:1294313-1294331
44	CTCF	chr20:1294187-1294436	LNCaP	prostate:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
45	CTCF	chr20:1294260-1294410	HRPEpiC	eye:	n/a	chr20:1294318-1294328 chr20:1294315-1294336 chr20:1294314-1294330 chr20:1294316-1294325 chr20:1294313-1294331
46	CTCF	chr20:1280340-1280490	AG04450	lung:	n/a	n/a
47	CTCF	chr20:1285440-1285590	K562	blood:	n/a	n/a
48	CTCF	chr20:1280260-1280410	K562	blood:	n/a	n/a
49	CTCF	chr20:1280300-1280450	AG09309	skin:	n/a	n/a
50	CTCF	chr20:1280521-1280525	NHEK	skin:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:1294313-1294363	ProgFib	skin:	n/a
2	chr20:1275425-1275475	GM12892	blood:	n/a
3	chr20:1294313-1294363	ProgFib	skin:	n/a
4	chr20:1275425-1275475	GM12892	blood:	n/a
5	chr20:1275312-1275362	HPAEpiC	pulmonary alveolar:	n/a
6	chr20:1286630-1286680	GM12892	blood:	n/a
7	chr20:1285816-1285866	GM06990	blood:	n/a
8	chr20:1294311-1294361	HCM	heart:	n/a
9	chr20:1276904-1276954	GM06990	blood:	n/a
10	chr20:1277001-1277051	HL-60	blood:	n/a
11	chr20:1272984-1273034	NT2-D1	testis:	n/a
12	chr20:1277043-1277093	HRPEpiC	eye:	n/a
13	chr20:1294313-1294363	PANC-1	pancreas:	n/a
14	chr20:1286558-1286608	HCF	heart:	n/a
15	chr20:1294021-1294071	GM12878	blood:	n/a
16	chr20:1294858-1294908	HUVEC	blood vessel:	n/a
17	chr20:1286558-1286608	HCM	heart:	n/a
18	chr20:1277043-1277093	MCF-7	breast:	n/a
19	chr20:1294376-1294426	ProgFib	skin:	n/a
20	chr20:1286558-1286608	BJ	skin:	n/a
21	chr20:1280341-1280391	AG04450	lung:	fetal
22	chr20:1289571-1289621	ProgFib	skin:	n/a
23	chr20:1289571-1289621	MCF10A-Er-Src	breast:	n/a
24	chr20:1286630-1286680	AG10803	skin:	n/a
25	chr20:1289571-1289621	AG10803	skin:	n/a
26	chr20:1294858-1294908	HEK293	kidney:	embryo
27	chr20:1272984-1273034	HRCEpiC	kidney:	n/a
28	chr20:1280341-1280391	AG09319	gingival:	n/a
29	chr20:1293682-1293732	LNCaP	prostate:	n/a
30	chr20:1286558-1286608	HUVEC	blood vessel:	n/a
31	chr20:1276904-1276954	Jurkat	blood:	n/a
32	chr20:1290724-1290774	HCF	heart:	n/a
33	chr20:1290724-1290774	ProgFib	skin:	n/a
34	chr20:1294311-1294361	GM12891	blood:	n/a
35	chr20:1294021-1294071	MCF-7	breast:	n/a
36	chr20:1275312-1275362	HCM	heart:	n/a
37	chr20:1287050-1287100	GM12892	blood:	n/a
38	chr20:1297651-1297701	LNCaP	prostate:	n/a
39	chr20:1290724-1290774	CMK	blood:	n/a
40	chr20:1294313-1294363	NHBE	bronchial:	n/a
41	chr20:1294311-1294361	PANC-1	pancreas:	n/a
42	chr20:1277043-1277093	GM06990	blood:	n/a
43	chr20:1294311-1294361	HepG2	liver:	n/a
44	chr20:1294311-1294361	HMEC	breast:	n/a
45	chr20:1277043-1277093	PrEC	prostate:	n/a
46	chr20:1297651-1297701	HNPCEpiC	eye:	n/a
47	chr20:1286630-1286680	HEEpiC	esophagus:	n/a
48	chr20:1297651-1297701	IMR90	lung:	fetal
49	chr20:1280341-1280391	HCF	heart:	n/a
50	chr20:1286558-1286608	LNCaP	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr20:1249007..1250962-chr20:1262132..1264748,2	K562	blood:
2	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:
3	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:
4	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:
5	chr20:1205252..1207423-chr20:1288622..1291157,2	K562	blood:
6	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
7	chr20:1292210..1295153-chr20:1372716..1374404,2	MCF-7	breast:
8	chr20:1264004..1265763-chr20:1267521..1269306,2	K562	blood:
9	chr20:1299694..1302463-chr20:1372805..1375416,2	MCF-7	breast:
10	chr20:1272718..1276817-chr20:1277279..1280817,5	MCF-7	breast:
11	chr1:33005017..33005864-chr20:1276425..1276945,3	HCT-116	colon:
12	chr20:1301486..1304353-chr20:1304834..1307376,4	MCF-7	breast:
13	chr20:1281423..1283535-chr20:1306063..1308157,2	K562	blood:
14	chr20:1279250..1281881-chr20:1447982..1450441,2	K562	blood:
15	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
16	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
17	chr20:1268133..1270306-chr20:1306878..1308946,2	MCF-7	breast:
18	chr20:1264004..1265763-chr20:1267521..1269306,2	K562	blood:
19	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
20	chr20:1272392..1273936-chr20:1275888..1278512,2	K562	blood:
21	chr20:1285641..1287786-chr20:1289716..1291902,2	K562	blood:
22	chr20:1196637..1198683-chr20:1279227..1282045,2	K562	blood:
23	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
24	chr20:1272392..1273936-chr20:1275888..1278512,2	K562	blood:
25	chr20:1282248..1284954-chr20:1288783..1291101,2	MCF-7	breast:
26	chr20:1208115..1209766-chr20:1255671..1257472,2	K562	blood:
27	chr20:1253926..1255771-chr20:1305647..1307617,2	K562	blood:
28	chr20:1205295..1208138-chr20:1282456..1285112,2	K562	blood:
29	chr20:1302236..1304059-chr20:1373953..1376855,2	MCF-7	breast:
30	chr20:1261527..1264873-chr20:1277243..1279340,3	K562	blood:
31	chr20:1283698..1286846-chr20:1286878..1289632,3	K562	blood:
32	chr20:1249007..1251870-chr20:1263248..1267387,3	K562	blood:
33	chr20:1275541..1277248-chr20:1306085..1307627,2	K562	blood:
34	chr20:1262142..1267228-chr20:1267583..1271633,5	K562	blood:
35	chr20:1298486..1301392-chr20:1305931..1307465,3	MCF-7	breast:
36	chr20:1280644..1283563-chr20:1283914..1285559,2	MCF-7	breast:
37	chr20:1293745..1297831-chr20:1304825..1308186,3	MCF-7	breast:
38	chr20:1255205..1257477-chr20:1260492..1263462,2	K562	blood:
39	chr20:1261527..1264873-chr20:1277243..1279340,3	K562	blood:
40	chr20:1296232..1299079-chr20:1367748..1370124,3	K562	blood:
41	chr20:1271210..1274105-chr20:1276784..1280464,4	K562	blood:
42	chr20:1257491..1258060-chr3:98620025..98620762,2	HCT-116	colon:
43	chr20:1279418..1283217-chr20:1283449..1287758,5	K562	blood:
44	chr20:1262142..1267228-chr20:1267583..1271633,5	K562	blood:
45	chr20:1274563..1276619-chr20:1279112..1281898,2	K562	blood:
46	chr20:1296607..1299079-chr20:1367748..1369670,2	K562	blood:
47	chr20:1286013..1291003-chr20:1304965..1309000,4	K562	blood:

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

Variant related genes	Relation type
SDCBP2	TF binding region
SDCBP2-AS1	TF binding region
SDCBP2	CpG island
SDCBP2-AS1	CpG island
ENSG00000125775	chromatin interactions
ENSG00000234684	chromatin interactions
ENSG00000160062	chromatin interactions
ENSG00000057019	chromatin interactions
ENSG00000244588	chromatin interactions
ENSG00000088833	chromatin interactions
ENSG00000088832	chromatin interactions

Extended variants
information (count: 2082 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:2082 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs149077971	chr20:1254828-1254829	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs143098820	chr20:1254836-1254837	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs372377197	chr20:1254840-1254841	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs77718120	chr20:1254894-1254895	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs62187493	chr20:1254938-1254939	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs544556983	chr20:1254948-1254949	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550113881	chr20:1255009-1255010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565560840	chr20:1255010-1255011	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs80220245	chr20:1255021-1255022	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs368317272	chr20:1255024-1255025	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs151163980	chr20:1255033-1255034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs539594743	chr20:1255061-1255062	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs191203397	chr20:1255065-1255066	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs79276805	chr20:1255071-1255072	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs184480657	chr20:1255089-1255090	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs561357664	chr20:1255106-1255107	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs571999214	chr20:1255110-1255111	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs376845255	chr20:1255178-1255179	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs369396480	chr20:1255182-1255183	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs540620395	chr20:1255202-1255203	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs560820269	chr20:1255209-1255210	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs532631099	chr20:1255269-1255270	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs552819738	chr20:1255270-1255271	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs78650050	chr20:1255278-1255279	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs531847498	chr20:1255323-1255324	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373312681	chr20:1255378-1255379	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs548660719	chr20:1255381-1255382	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs568402446	chr20:1255389-1255390	Genic enhancers Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs527682087	chr20:1255415-1255416	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs6074376	chr20:1255478-1255479	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs190590618	chr20:1255487-1255488	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs150294819	chr20:1255524-1255525	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs543686510	chr20:1255580-1255581	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs569463080	chr20:1255601-1255602	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs137862630	chr20:1255634-1255635	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373468577	chr20:1255637-1255638	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs571977146	chr20:1255639-1255640	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs541008846	chr20:1255640-1255641	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs193145592	chr20:1255652-1255653	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs577488672	chr20:1255668-1255669	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs546474546	chr20:1255744-1255745	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs114275103	chr20:1255776-1255777	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs531931303	chr20:1255792-1255793	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542389122	chr20:1255837-1255838	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79937072	chr20:1255870-1255871	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34263552	chr20:1255899-1255900	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs527716025	chr20:1255904-1255905	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542761075	chr20:1255928-1255929	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547783068	chr20:1255929-1255930	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369551421	chr20:1255967-1255968	Weak transcription Strong transcription Enhancers	n/a	n/a	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Gastric cancer	22014070	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1310 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1247800-1261000	Weak transcription	Right Ventricle	heart
2	chr20:1247800-1262000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr20:1248000-1255800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:1248000-1260600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr20:1248000-1260800	Weak transcription	Osteobl	bone
6	chr20:1248000-1266800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr20:1248000-1271800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:1248000-1278600	Weak transcription	Spleen	Spleen
9	chr20:1248200-1255200	Weak transcription	Fetal Brain Female	brain
10	chr20:1248200-1255600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:1248200-1260400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr20:1248200-1260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr20:1248200-1265000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr20:1248200-1277400	Weak transcription	Fetal Stomach	stomach
15	chr20:1248200-1281200	Weak transcription	NHEK	skin
16	chr20:1248400-1255600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr20:1248400-1261400	Weak transcription	Colon Smooth Muscle	Colon
18	chr20:1248600-1266800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr20:1248800-1258000	Weak transcription	NHLF	lung
20	chr20:1248800-1263600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr20:1249000-1255400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr20:1249000-1281400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr20:1249800-1258000	Weak transcription	Pancreas	Pancrea
24	chr20:1249800-1262200	Weak transcription	Left Ventricle	heart
25	chr20:1250800-1255200	Weak transcription	Brain Angular Gyrus	brain
26	chr20:1251400-1255200	Weak transcription	K562	blood
27	chr20:1251400-1255400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr20:1251800-1255600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr20:1251800-1267000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr20:1252000-1264800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr20:1252000-1267200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr20:1252400-1259800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr20:1252600-1255400	Enhancers	HSMMtube	muscle
34	chr20:1252800-1256000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr20:1252800-1256800	Enhancers	Fetal Muscle Leg	muscle
36	chr20:1253000-1256200	Enhancers	Brain Anterior Caudate	brain
37	chr20:1253000-1256800	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr20:1253000-1274800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr20:1253200-1255000	Enhancers	HSMM	muscle
40	chr20:1253800-1255200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr20:1253800-1255400	Weak transcription	Lung	lung
42	chr20:1253800-1256000	Strong transcription	Primary T cells from cord blood	blood
43	chr20:1253800-1260400	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr20:1253800-1260400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr20:1253800-1261400	Weak transcription	Gastric	stomach
46	chr20:1253800-1263600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr20:1253800-1285400	Weak transcription	Aorta	Aorta
48	chr20:1254000-1255000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr20:1254000-1255200	Weak transcription	Brain Germinal Matrix	brain
50	chr20:1254000-1255400	Weak transcription	Duodenum Mucosa	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links