Variant report

Variant	nsv2501
Chromosome Location	chr19:43942581-43978424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1002)
CpG islands
(count:917)
Chromatin interactive
region (count:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

(count:1002 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr19:43971866-43972230	HepG2	liver:	n/a	n/a
2	ARID3A	chr19:43961845-43962231	K562	blood:	n/a	n/a
3	ARID3A	chr19:43951186-43951527	K562	blood:	n/a	n/a
4	ARID3A	chr19:43973269-43973499	HepG2	liver:	n/a	n/a
5	ARID3A	chr19:43948815-43949085	K562	blood:	n/a	n/a
6	BACH1	chr19:43967922-43968333	K562	blood:	n/a	n/a
7	BACH1	chr19:43951148-43951411	K562	blood:	n/a	n/a
8	BACH1	chr19:43967136-43968057	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr19:43942854-43943565	A549	lung:	n/a	n/a
10	BCL3	chr19:43943124-43943602	A549	lung:	n/a	n/a
11	BHLHE40	chr19:43948832-43949262	K562	blood:	n/a	n/a
12	BHLHE40	chr19:43947828-43948038	K562	blood:	n/a	n/a
13	BHLHE40	chr19:43967079-43968689	K562	blood:	n/a	n/a
14	BHLHE40	chr19:43961624-43962168	K562	blood:	n/a	n/a
15	BHLHE40	chr19:43951076-43951587	K562	blood:	n/a	n/a
16	BHLHE40	chr19:43964592-43965166	K562	blood:	n/a	n/a
17	BHLHE40	chr19:43964555-43964976	HepG2	liver:	n/a	n/a
18	BRCA1	chr19:43967795-43967885	HepG2	liver:	n/a	n/a
19	BRCA1	chr19:43967784-43968016	H1-hESC	embryonic stem cell:	n/a	n/a
20	BRCA1	chr19:43967739-43968091	GM12878	blood:	n/a	n/a
21	BRCA1	chr19:43967416-43967485	GM12878	blood:	n/a	n/a
22	BRCA1	chr19:43969705-43970154	Hela-S3	cervix:	n/a	n/a
23	CBX3	chr19:43967159-43967524	K562	blood:	n/a	n/a
24	CCNT2	chr19:43948831-43949088	K562	blood:	n/a	n/a
25	CCNT2	chr19:43967219-43968539	K562	blood:	n/a	chr19:43968364-43968373 chr19:43967506-43967515 chr19:43968002-43968011 chr19:43967640-43967649
26	CEBPB	chr19:43969018-43969211	K562	blood:	n/a	n/a
27	CEBPB	chr19:43971891-43972187	HepG2	liver:	n/a	n/a
28	CEBPB	chr19:43971811-43972281	K562	blood:	n/a	n/a
29	CEBPB	chr19:43966618-43967054	H1-hESC	embryonic stem cell:	n/a	chr19:43966759-43966770
30	CEBPB	chr19:43966587-43967060	K562	blood:	n/a	chr19:43966759-43966770
31	CEBPB	chr19:43951333-43951649	K562	blood:	n/a	n/a
32	CEBPB	chr19:43969597-43970129	MCF-7	breast:	n/a	n/a
33	CEBPB	chr19:43969590-43970083	MCF-7	breast:	n/a	n/a
34	CEBPB	chr19:43967153-43968087	HepG2	liver:	n/a	n/a
35	CEBPB	chr19:43967416-43968347	Hela-S3	cervix:	n/a	n/a
36	CEBPB	chr19:43969682-43970003	IMR90	lung:	n/a	n/a
37	CEBPB	chr19:43969592-43970068	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr19:43973210-43973521	IMR90	lung:	n/a	chr19:43973323-43973334
39	CEBPB	chr19:43971815-43972293	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr19:43967408-43968040	K562	blood:	n/a	n/a
41	CEBPB	chr19:43951272-43951703	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr19:43973222-43973524	HepG2	liver:	n/a	chr19:43973323-43973334
43	CEBPB	chr19:43971868-43972105	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr19:43966609-43966821	A549	lung:	n/a	chr19:43966759-43966770
45	CEBPB	chr19:43971750-43972174	HepG2	liver:	n/a	n/a
46	CEBPB	chr19:43943332-43943525	A549	lung:	n/a	n/a
47	CEBPB	chr19:43971814-43972295	IMR90	lung:	n/a	n/a
48	CEBPB	chr19:43959484-43960149	MCF-7	breast:	n/a	n/a
49	CEBPB	chr19:43942346-43943574	Hela-S3	cervix:	n/a	chr19:43943165-43943178 chr19:43943273-43943286
50	CEBPB	chr19:43971817-43972248	HepG2	liver:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:43967248-43967298	NHBE	bronchial:	n/a
2	chr19:43968495-43968545	SK-N-MC	brain:	n/a
3	chr19:43967248-43967298	NHBE	bronchial:	n/a
4	chr19:43968495-43968545	SK-N-MC	brain:	n/a
5	chr19:43969884-43969934	BJ	skin:	n/a
6	chr19:43975664-43975714	PANC-1	pancreas:	n/a
7	chr19:43969769-43969819	H1-hESC	embryonic stem cell:	embryo
8	chr19:43965012-43965062	GM06990	blood:	n/a
9	chr19:43968624-43968674	NHBE	bronchial:	n/a
10	chr19:43968495-43968545	SK-N-SH_RA	brain:	n/a
11	chr19:43969769-43969819	GM19239	blood:	n/a
12	chr19:43967213-43967263	LNCaP	prostate:	n/a
13	chr19:43970034-43970084	IMR90	lung:	fetal
14	chr19:43968133-43968183	HEK293	kidney:	embryo
15	chr19:43969810-43969860	AoSMC	blood vessel:	n/a
16	chr19:43970683-43970733	GM12892	blood:	n/a
17	chr19:43969884-43969934	GM12891	blood:	n/a
18	chr19:43969886-43969936	HAEpiC	amniotic membrane:	n/a
19	chr19:43969650-43969700	BJ	skin:	n/a
20	chr19:43965012-43965062	MCF10A-Er-Src	breast:	n/a
21	chr19:43969650-43969700	Caco-2	colon:	n/a
22	chr19:43970683-43970733	NHDF-neo	bronchial:	n/a
23	chr19:43970683-43970733	SAEC	small airway:	n/a
24	chr19:43969884-43969934	HAEpiC	amniotic membrane:	n/a
25	chr19:43967248-43967298	GM12891	blood:	n/a
26	chr19:43965012-43965062	HCF	heart:	n/a
27	chr19:43968133-43968183	HCM	heart:	n/a
28	chr19:43970034-43970084	BJ	skin:	n/a
29	chr19:43970034-43970084	SK-N-MC	brain:	n/a
30	chr19:43967248-43967298	NHDF-neo	bronchial:	n/a
31	chr19:43967248-43967298	U87	brain:	n/a
32	chr19:43970683-43970733	AG09319	gingival:	n/a
33	chr19:43969650-43969700	GM19239	blood:	n/a
34	chr19:43970683-43970733	HL-60	blood:	n/a
35	chr19:43975664-43975714	MCF10A-Er-Src	breast:	n/a
36	chr19:43968495-43968545	IMR90	lung:	fetal
37	chr19:43965012-43965062	HEK293	kidney:	embryo
38	chr19:43969650-43969700	AoSMC	blood vessel:	n/a
39	chr19:43968495-43968545	HCPEpiC	choroid plexus:	n/a
40	chr19:43969650-43969700	HNPCEpiC	eye:	n/a
41	chr19:43968133-43968183	CMK	blood:	n/a
42	chr19:43968133-43968183	HCF	heart:	n/a
43	chr19:43967213-43967263	MCF10A-Er-Src	breast:	n/a
44	chr19:43967248-43967298	SK-N-MC	brain:	n/a
45	chr19:43965012-43965062	H1-hESC	embryonic stem cell:	embryo
46	chr19:43970537-43970587	HEK293	kidney:	embryo
47	chr19:43968624-43968674	HRPEpiC	eye:	n/a
48	chr19:43970537-43970587	Hepatocyte	liver:	n/a
49	chr19:43968624-43968674	HRCEpiC	kidney:	n/a
50	chr19:43965012-43965062	HIPEpiC	eye:	n/a

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:43950972..43953195-chr19:43955258..43957293,2	MCF-7	breast:
2	chr19:43970034..43971931-chr19:43987408..43990359,2	MCF-7	breast:
3	chr19:43936721..43937673-chr19:43951109..43951816,2	MCF-7	breast:
4	chr19:43949660..43952729-chr19:43966089..43969502,3	K562	blood:
5	chr19:43966113..43971089-chr19:44005040..44010546,6	K562	blood:
6	chr19:43967204..43969877-chr19:44006593..44010322,9	MCF-7	breast:
7	chr19:43967559..43969177-chr19:44122484..44124753,2	K562	blood:
8	chr19:43967717..43971076-chr19:44036987..44039699,3	MCF-7	breast:
9	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
10	chr19:43950879..43951915-chr19:44023292..44024529,15	K562	blood:
11	chr19:43967550..43968088-chr8:37962745..37963292,2	Hela-S3	cervix:
12	chr19:43947823..43950572-chr19:43967998..43969717,2	MCF-7	breast:
13	chr19:43978041..43981148-chr19:43983217..43985461,3	K562	blood:
14	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:
15	chr19:43969157..43969660-chr3:15751924..15752424,2	Hela-S3	cervix:
16	chr19:43956975..43958527-chr19:43968181..43969853,2	MCF-7	breast:
17	chr19:43967562..43969462-chr19:43975212..43976760,2	K562	blood:
18	chr19:43973600..43975639-chr19:43977848..43979529,3	MCF-7	breast:
19	chr19:43973013..43975341-chr19:43978151..43982026,3	K562	blood:
20	chr19:43937028..43937653-chr19:43950851..43951764,3	MCF-7	breast:
21	chr19:43966005..43970813-chr19:43978022..43981097,6	K562	blood:
22	chr19:43942702..43944453-chr19:44007455..44009598,2	MCF-7	breast:
23	chr19:43966005..43974691-chr19:43977125..43981104,12	K562	blood:
24	chr19:43966007..43969922-chr19:43972303..43976712,7	K562	blood:
25	chr19:43942400..43947044-chr19:43967250..43970389,5	MCF-7	breast:
26	chr19:43959047..43960666-chr19:44006896..44009255,2	MCF-7	breast:
27	chr19:43950972..43953195-chr19:43955258..43957293,2	MCF-7	breast:
28	chr19:43949852..43952277-chr19:44156357..44158096,2	K562	blood:
29	chr19:43968715..43971429-chr19:44172597..44174445,2	MCF-7	breast:
30	chr19:43950829..43952315-chr19:44023277..44024591,13	MCF-7	breast:
31	chr19:43950463..43951811-chr19:44023286..44024411,8	MCF-7	breast:
32	chr19:43964006..43968075-chr19:43982623..43986349,3	MCF-7	breast:
33	chr19:43965066..43971111-chr19:44006791..44009897,14	MCF-7	breast:
34	chr19:43977172..43980889-chr19:44011519..44014130,3	MCF-7	breast:
35	chr19:43967220..43971779-chr19:43975734..43980942,11	MCF-7	breast:
36	chr19:43959936..43961560-chr19:44019524..44021697,2	MCF-7	breast:
37	chr19:43978041..43981341-chr19:43983217..43985087,4	K562	blood:
38	chr19:43951229..43953633-chr19:43981664..43984219,2	MCF-7	breast:
39	chr19:43967515..43971066-chr19:43978004..43981821,7	MCF-7	breast:
40	chr19:43857729..43859549-chr19:43967499..43969532,2	MCF-7	breast:
41	chr19:43942729..43944786-chr19:43970636..43972210,2	MCF-7	breast:
42	chr19:43966525..43969059-chr19:44008556..44010178,2	K562	blood:
43	chr19:43973600..43975639-chr19:43977848..43979529,3	MCF-7	breast:
44	chr19:43950949..43953195-chr19:44029676..44031859,2	MCF-7	breast:
45	chr19:43977180..43982299-chr19:44003653..44008245,6	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	LYPD3	hsa-miR-335-5p	chr19:43966794-43966821
2	LYPD3	hsa-miR-7-5p	chr19:43965046-43965071

Variant related genes	Relation type
LYPD3	TF binding region
LYPD3	CpG island
ENSG00000011422	chromatin interactions
ENSG00000131116	chromatin interactions
ENSG00000176472	chromatin interactions
ENSG00000176531	chromatin interactions
ENSG00000124466	chromatin interactions
ENSG00000129691	chromatin interactions
ENSG00000204936	chromatin interactions
ENSG00000105755	chromatin interactions

Extended variants
information (count: 1474 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:1474 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs367638688	chr19:43942601-43942602	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs184341673	chr19:43942634-43942635	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187451807	chr19:43942643-43942644	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs143893731	chr19:43942648-43942649	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs551505498	chr19:43942650-43942651	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565282017	chr19:43942661-43942662	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs35341744	chr19:43942675-43942676	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531060668	chr19:43942678-43942679	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs117498041	chr19:43942688-43942689	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs547509238	chr19:43942696-43942697	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs567639352	chr19:43942700-43942701	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs147274088	chr19:43942748-43942749	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs3859443	chr19:43942769-43942770	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs570320972	chr19:43942785-43942786	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs538912321	chr19:43942815-43942816	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs559100297	chr19:43942829-43942830	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577701745	chr19:43942892-43942893	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs533866235	chr19:43942919-43942920	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs567698561	chr19:43942926-43942927	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553423586	chr19:43942973-43942974	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs573317543	chr19:43943014-43943015	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs377169972	chr19:43943038-43943039	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562447766	chr19:43943079-43943080	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs560030825	chr19:43943088-43943089	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs369816849	chr19:43943107-43943108	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs12983123	chr19:43943122-43943123	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs565074919	chr19:43943129-43943130	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs574756095	chr19:43943141-43943142	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs547626126	chr19:43943150-43943151	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs527810338	chr19:43943158-43943159	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs372976884	chr19:43943291-43943292	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs547888575	chr19:43943348-43943349	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs192302309	chr19:43943460-43943461	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs530124611	chr19:43943473-43943474	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs550150694	chr19:43943483-43943484	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs2682597	chr19:43943499-43943500	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112042043	chr19:43943541-43943542	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs2261460	chr19:43943580-43943581	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs71169238	chr19:43943584-43943585	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs57323132	chr19:43943586-43943587	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs56012630	chr19:43943587-43943588	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573659663	chr19:43943610-43943611	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs552527381	chr19:43943633-43943634	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs566285386	chr19:43943634-43943635	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs534872669	chr19:43943637-43943638	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs140867630	chr19:43943646-43943647	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs184782352	chr19:43943668-43943669	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs142399727	chr19:43943687-43943688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535889345	chr19:43943688-43943689	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555729791	chr19:43943751-43943752	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Ovarian cancer	21720365	CNVD
Cancer	20164919	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Prostate cancer	18632612	CNVD
Autism	22495311	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Ductal carcinoma	22052326	CNVD
Congenital nephrotic syndrome	18421352	CNVD
Astrocytoma	17934521	CNVD
Leukemia	17361228	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Breast cancer	21858162	CNVD
Breast cancer	17603634	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
renal disease	20603712	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	21364760	CNVD
Chordoma	18071362	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Wilms tumour	21544195	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Metanephric adenoma	20802469	CNVD
Acute myeloid leukemia	16864856	CNVD
Bladder cancer	21909424	CNVD
Medulloblastoma	16783165	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Astrocytoma	22246337	CNVD
Ovarian cancer	22174824	CNVD
Cancer	20164920	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	20800559	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Spondylocostal dysostosis	21085971	CNVD
Nicotine metabolism	21956041	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Glioblastoma multiforme	17002787	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	16750200	CNVD
Colorectal cancer	20459617	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:1227 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43930400-43943000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:43931000-43942600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:43935200-43942800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr19:43937600-43946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr19:43939800-43942600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:43940200-43942600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr19:43940600-43942800	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr19:43940600-43942800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr19:43940600-43944800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:43940800-43942600	Enhancers	Primary T cells from cord blood	blood
11	chr19:43940800-43942600	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr19:43941200-43942600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr19:43941200-43942800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:43941400-43942600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:43941600-43944200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr19:43941600-43944200	Enhancers	Fetal Thymus	thymus
17	chr19:43941600-43944400	Enhancers	Primary B cells from peripheral blood	blood
18	chr19:43941800-43943200	Enhancers	Right Ventricle	heart
19	chr19:43941800-43943800	Enhancers	Rectal Mucosa Donor 29	rectum
20	chr19:43941800-43944000	Enhancers	Esophagus	oesophagus
21	chr19:43941800-43944000	Enhancers	Spleen	Spleen
22	chr19:43941800-43944200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr19:43941800-43944200	Enhancers	Thymus	Thymus
24	chr19:43942000-43942600	Enhancers	Hela-S3	cervix
25	chr19:43942000-43942600	Enhancers	NHEK	skin
26	chr19:43942000-43943000	Enhancers	Lung	lung
27	chr19:43942000-43943200	Enhancers	Colonic Mucosa	Colon
28	chr19:43942000-43944000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr19:43942000-43944200	Enhancers	Primary B cells from cord blood	blood
30	chr19:43942000-43944200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:43942000-43944200	Enhancers	Fetal Stomach	stomach
32	chr19:43942200-43942600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr19:43942200-43942600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr19:43942200-43942600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr19:43942200-43942800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:43942200-43944200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:43942400-43942600	Enhancers	A549	lung
38	chr19:43942400-43942600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr19:43942400-43943200	Enhancers	HMEC	breast
40	chr19:43942400-43943800	Enhancers	Primary hematopoietic stem cells	blood
41	chr19:43942400-43943800	Enhancers	Fetal Muscle Trunk	muscle
42	chr19:43942400-43944000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr19:43942400-43944000	Enhancers	HSMMtube	muscle
44	chr19:43942400-43944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr19:43942600-43942800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:43942600-43942800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr19:43942600-43942800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
48	chr19:43942600-43943000	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr19:43942600-43943000	Bivalent Enhancer	Placenta	Placenta
50	chr19:43942600-43943000	Flanking Active TSS	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links