Variant report

Variant	nsv1055623
Chromosome Location	chr21:40118451-40161072
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1001)
CpG islands
(count:1037)
Chromatin interactive
region (count:56)
LncRNA
region (count:12)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1001 , 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	chr21:40145329-40145397	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:40156435-40156752	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:40119715-40120026	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:40159401-40160331	HepG2	liver:	n/a	n/a
5	ARID3A	chr21:40127694-40128174	HepG2	liver:	n/a	n/a
6	ARID3A	chr21:40152421-40152431	HepG2	liver:	n/a	n/a
7	ARID3A	chr21:40159573-40159765	K562	blood:	n/a	n/a
8	ATF1	chr21:40159493-40159743	K562	blood:	n/a	n/a
9	ATF1	chr21:40132422-40132621	K562	blood:	n/a	n/a
10	ATF2	chr21:40138982-40139801	GM12878	blood:	n/a	n/a
11	ATF2	chr21:40145173-40145529	GM12878	blood:	n/a	n/a
12	ATF2	chr21:40152793-40153216	GM12878	blood:	n/a	n/a
13	ATF2	chr21:40149376-40149885	GM12878	blood:	n/a	n/a
14	ATF2	chr21:40138963-40139770	GM12878	blood:	n/a	n/a
15	ATF3	chr21:40159451-40159889	K562	blood:	n/a	n/a
16	ATF3	chr21:40159527-40159705	K562	blood:	n/a	n/a
17	ATF3	chr21:40159459-40159847	A549	lung:	n/a	n/a
18	BATF	chr21:40139078-40139381	GM12878	blood:	n/a	n/a
19	BATF	chr21:40159494-40160011	GM12878	blood:	n/a	chr21:40159639-40159649
20	BATF	chr21:40145258-40145529	GM12878	blood:	n/a	n/a
21	BATF	chr21:40145171-40145631	GM12878	blood:	n/a	n/a
22	BATF	chr21:40138996-40139651	GM12878	blood:	n/a	n/a
23	BCL11A	chr21:40145281-40145627	GM12878	blood:	n/a	chr21:40145429-40145438 chr21:40145430-40145439
24	BCL3	chr21:40159399-40159869	A549	lung:	n/a	chr21:40159642-40159651 chr21:40159641-40159650
25	BCL3	chr21:40159442-40159876	A549	lung:	n/a	chr21:40159642-40159651 chr21:40159641-40159650
26	BCLAF1	chr21:40138925-40139809	GM12878	blood:	n/a	chr21:40138942-40138951 chr21:40139272-40139281
27	BCLAF1	chr21:40138970-40139353	GM12878	blood:	n/a	chr21:40139272-40139281
28	BHLHE40	chr21:40159534-40159792	GM12878	blood:	n/a	n/a
29	BHLHE40	chr21:40159446-40160759	HepG2	liver:	n/a	n/a
30	BHLHE40	chr21:40138902-40139891	GM12878	blood:	n/a	n/a
31	BHLHE40	chr21:40131872-40132544	K562	blood:	n/a	chr21:40132242-40132251 chr21:40132236-40132257 chr21:40132242-40132251 chr21:40132240-40132253 chr21:40132243-40132252
32	BHLHE40	chr21:40159459-40159984	K562	blood:	n/a	n/a
33	BHLHE40	chr21:40140516-40140756	GM12878	blood:	n/a	n/a
34	BHLHE40	chr21:40127504-40127798	HepG2	liver:	n/a	n/a
35	BRCA1	chr21:40127583-40128066	Hela-S3	cervix:	n/a	n/a
36	BRCA1	chr21:40159475-40160137	Hela-S3	cervix:	n/a	n/a
37	BRCA1	chr21:40159879-40160207	HepG2	liver:	n/a	n/a
38	CBX3	chr21:40159467-40159964	K562	blood:	n/a	n/a
39	CBX3	chr21:40138080-40138400	K562	blood:	n/a	n/a
40	CCNT2	chr21:40159469-40159938	K562	blood:	n/a	n/a
41	CEBPB	chr21:40152200-40152646	HCT-116	colon:	n/a	n/a
42	CEBPB	chr21:40127539-40127961	ECC-1	luminal epithelium:	n/a	chr21:40127903-40127916
43	CEBPB	chr21:40159305-40160365	MCF-7	breast:	n/a	chr21:40159492-40159509 chr21:40159497-40159508 chr21:40159495-40159506 chr21:40159495-40159508
44	CEBPB	chr21:40152266-40152662	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr21:40156379-40156917	MCF-7	breast:	n/a	n/a
46	CEBPB	chr21:40159879-40160209	HepG2	liver:	n/a	n/a
47	CEBPB	chr21:40159389-40159714	K562	blood:	n/a	chr21:40159492-40159509 chr21:40159497-40159508 chr21:40159495-40159506 chr21:40159495-40159508
48	CEBPB	chr21:40141296-40141713	IMR90	lung:	n/a	n/a
49	CEBPB	chr21:40159330-40159736	K562	blood:	n/a	chr21:40159492-40159509 chr21:40159497-40159508 chr21:40159495-40159506 chr21:40159495-40159508
50	CEBPB	chr21:40144830-40145913	Hela-S3	cervix:	n/a	n/a

(count:1037 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:40141756-40141806	HRCEpiC	kidney:	n/a
2	chr21:40124277-40124327	HRE	kidney:	n/a
3	chr21:40141040-40141090	HCF	heart:	n/a
4	chr21:40145404-40145454	AoSMC	blood vessel:	n/a
5	chr21:40141756-40141806	Hela-S3	cervix:	n/a
6	chr21:40145949-40145999	U87	brain:	n/a
7	chr21:40145923-40145973	ECC-1	luminal epithelium:	n/a
8	chr21:40145949-40145999	HCF	heart:	n/a
9	chr21:40141756-40141806	GM12892	blood:	n/a
10	chr21:40124792-40124842	Caco-2	colon:	n/a
11	chr21:40124363-40124413	HRE	kidney:	n/a
12	chr21:40125580-40125630	A549	lung:	n/a
13	chr21:40141569-40141619	NB4	blood:	n/a
14	chr21:40146046-40146096	HCM	heart:	n/a
15	chr21:40141809-40141859	PANC-1	pancreas:	n/a
16	chr21:40146046-40146096	HUVEC	blood vessel:	n/a
17	chr21:40141756-40141806	AoSMC	blood vessel:	n/a
18	chr21:40146149-40146199	HAEpiC	amniotic membrane:	n/a
19	chr21:40125580-40125630	MCF-7	breast:	n/a
20	chr21:40124277-40124327	GM12891	blood:	n/a
21	chr21:40141040-40141090	HUVEC	blood vessel:	n/a
22	chr21:40124792-40124842	HEK293	kidney:	embryo
23	chr21:40145923-40145973	HepG2	liver:	n/a
24	chr21:40125580-40125630	GM12878	blood:	n/a
25	chr21:40124848-40124898	HL-60	blood:	n/a
26	chr21:40145923-40145973	NHDF-neo	bronchial:	n/a
27	chr21:40124848-40124898	ovcar-3	ovarian:	n/a
28	chr21:40124308-40124358	NH-A	brain:	n/a
29	chr21:40146046-40146096	HCPEpiC	choroid plexus:	n/a
30	chr21:40145404-40145454	GM12892	blood:	n/a
31	chr21:40124277-40124327	PANC-1	pancreas:	n/a
32	chr21:40124363-40124413	AG04449	skin:	fetal
33	chr21:40124848-40124898	SK-N-SH_RA	brain:	n/a
34	chr21:40141569-40141619	NHBE	bronchial:	n/a
35	chr21:40141569-40141619	T-47D	breast:	n/a
36	chr21:40146149-40146199	AoSMC	blood vessel:	n/a
37	chr21:40141040-40141090	PANC-1	pancreas:	n/a
38	chr21:40124363-40124413	AoSMC	blood vessel:	n/a
39	chr21:40141569-40141619	ProgFib	skin:	n/a
40	chr21:40146046-40146096	SK-N-SH_RA	brain:	n/a
41	chr21:40124308-40124358	HCM	heart:	n/a
42	chr21:40124792-40124842	Hela-S3	cervix:	n/a
43	chr21:40125580-40125630	HAEpiC	amniotic membrane:	n/a
44	chr21:40145404-40145454	PrEC	prostate:	n/a
45	chr21:40124792-40124842	AoSMC	blood vessel:	n/a
46	chr21:40124308-40124358	T-47D	breast:	n/a
47	chr21:40124848-40124898	MCF-7	breast:	n/a
48	chr21:40124848-40124898	GM12878	blood:	n/a
49	chr21:40141040-40141090	U87	brain:	n/a
50	chr21:40123107-40123157	GM06990	blood:	n/a

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:40130024..40132037-chr21:40276501..40279158,2	K562	blood:
2	chr21:40118598..40121434-chr21:40123073..40125443,2	MCF-7	breast:
3	chr21:40131678..40133520-chr21:40176178..40178234,2	K562	blood:
4	chr21:40134770..40137394-chr21:40177383..40179634,2	K562	blood:
5	chr21:40158554..40160744-chr21:40179736..40182469,2	MCF-7	breast:
6	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
7	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:
8	chr21:40154093..40155752-chr21:40174948..40176789,2	MCF-7	breast:
9	chr21:40156379..40158519-chr21:40187612..40190020,2	MCF-7	breast:
10	chr21:40157809..40160879-chr21:40282729..40285436,3	MCF-7	breast:
11	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
12	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
13	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
14	chr21:40147066..40150070-chr21:40150504..40153141,3	K562	blood:
15	chr21:40116268..40119361-chr21:40123830..40126744,3	K562	blood:
16	chr21:40128876..40131323-chr21:40553802..40556244,2	K562	blood:
17	chr21:40130290..40133520-chr21:40176178..40179147,4	K562	blood:
18	chr21:40142694..40145286-chr21:40175526..40177363,2	K562	blood:
19	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
20	chr21:40159408..40162072-chr21:40163674..40168810,7	MCF-7	breast:
21	chr21:40155047..40156844-chr21:40159379..40161340,2	MCF-7	breast:
22	chr21:40116993..40119222-chr21:40177945..40180622,2	MCF-7	breast:
23	chr21:40106344..40108151-chr21:40152083..40153978,2	MCF-7	breast:
24	chr21:40151697..40154341-chr21:40177180..40179179,3	K562	blood:
25	chr21:40140717..40143513-chr21:40158331..40160522,2	MCF-7	breast:
26	chr21:40123857..40126104-chr21:40126225..40128039,2	MCF-7	breast:
27	chr21:40159708..40161955-chr21:40178038..40180627,4	K562	blood:
28	chr21:40127785..40129690-chr21:40154024..40156876,2	MCF-7	breast:
29	chr21:40156704..40162526-chr21:40173499..40179988,10	MCF-7	breast:
30	chr21:40112842..40114709-chr21:40120595..40122740,2	K562	blood:
31	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
32	chr21:40158395..40160245-chr21:40285498..40288135,2	MCF-7	breast:
33	chr21:40156601..40161503-chr21:40174870..40178905,10	MCF-7	breast:
34	chr21:40158174..40165115-chr21:40166769..40170231,7	K562	blood:
35	chr21:40151697..40154341-chr21:40177555..40180679,4	K562	blood:
36	chr21:40156267..40158669-chr21:40161958..40164607,2	K562	blood:
37	chr21:40021665..40023567-chr21:40158455..40160815,2	K562	blood:
38	chr21:40159503..40161040-chr21:40181420..40184054,2	K562	blood:
39	chr21:40147391..40149413-chr21:40156401..40158337,2	MCF-7	breast:
40	chr21:40129051..40130983-chr21:40175842..40178311,2	K562	blood:
41	chr21:40119237..40120879-chr21:40122622..40125319,2	K562	blood:
42	chr21:40139801..40142205-chr21:40143628..40147654,4	K562	blood:
43	chr21:40138076..40140463-chr21:40532005..40534792,2	MCF-7	breast:
44	chr21:40126380..40129299-chr21:40174705..40177451,3	MCF-7	breast:
45	chr21:40145518..40147915-chr21:40158381..40160685,2	K562	blood:
46	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
47	chr21:40156369..40159602-chr21:40175863..40178894,4	K562	blood:
48	chr21:40124035..40126719-chr21:40139656..40141773,2	MCF-7	breast:
49	chr21:40127518..40129462-chr21:40170586..40172913,2	MCF-7	breast:
50	chr21:40158041..40161910-chr21:40175596..40180594,8	K562	blood:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ERG-2	chr21:40145373-40145401	NR_027065
2	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
3	lnc-ERG-2	chr21:40145373-40145401	NONHSAT082118
4	lnc-ERG-2	chr21:40140769-40140898	XLOC_014073
5	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
6	lnc-ERG-2	chr21:40119321-40119384	NONHSAT082118
7	lnc-ERG-2	chr21:40119321-40119384	NR_027065
8	lnc-ERG-2	chr21:40140771-40140898	XLOC_014073
9	lnc-ERG-2	chr21:40140771-40140898	NONHSAT082122
10	lnc-ERG-2	chr21:40145373-40145401	XLOC_014073
11	lnc-ERG-2	chr21:40119321-40119384	XLOC_014073
12	lnc-ERG-2	chr21:40124131-40124181	XLOC_014073

No data

Variant related genes	Relation type
LINC00114	TF binding region
LINC00114	CpG island
ENSG00000157557	chromatin interactions
ENSG00000223806	chromatin interactions
ENSG00000234035	chromatin interactions
ENSG00000183527	chromatin interactions
ENAH	miRNA target sites
TMX3	miRNA target sites

Extended variants
information (count: 1618 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1618 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541406962	chr21:40118489-40118490	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs536529153	chr21:40118509-40118510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573345363	chr21:40118514-40118515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552998783	chr21:40118527-40118528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575195203	chr21:40118536-40118537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141743629	chr21:40118568-40118569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538851576	chr21:40118588-40118589	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191917545	chr21:40118620-40118621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs571819273	chr21:40118635-40118636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540766561	chr21:40118713-40118714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150525564	chr21:40118719-40118720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183936612	chr21:40118727-40118728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188782908	chr21:40118728-40118729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs142473728	chr21:40118729-40118730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs193028128	chr21:40118749-40118750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532568845	chr21:40118772-40118773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546381369	chr21:40118779-40118780	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559546537	chr21:40118815-40118816	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139867592	chr21:40118821-40118822	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78851764	chr21:40118822-40118823	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs548729152	chr21:40118827-40118828	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568450132	chr21:40118839-40118840	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs143319927	chr21:40118928-40118929	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549782688	chr21:40118970-40118971	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2836656	chr21:40119033-40119034	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	mRNA abundance
26	rs538417543	chr21:40119042-40119043	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs76014802	chr21:40119045-40119046	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs143858101	chr21:40119048-40119049	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs79325834	chr21:40119049-40119050	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs531109545	chr21:40119053-40119054	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs59392957	chr21:40119059-40119060	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs574057456	chr21:40119086-40119087	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs7280811	chr21:40119132-40119133	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs561026709	chr21:40119150-40119151	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs543427083	chr21:40119153-40119154	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs557323642	chr21:40119154-40119155	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs112297113	chr21:40119179-40119180	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs139128459	chr21:40119191-40119192	Weak transcription ZNF genes & repeats Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs191787246	chr21:40119238-40119239	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs528218507	chr21:40119244-40119245	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183574589	chr21:40119276-40119277	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs542309351	chr21:40119277-40119278	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs562187577	chr21:40119289-40119290	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs530767947	chr21:40119292-40119293	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs550964662	chr21:40119312-40119313	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs570798909	chr21:40119322-40119323	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
47	rs149845690	chr21:40119366-40119367	Weak transcription Enhancers ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
48	rs189313921	chr21:40119386-40119387	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs565520959	chr21:40119396-40119397	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs534521690	chr21:40119406-40119407	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Glioblastoma multiforme	21080181	CNVD
Cancer	16751803	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Down syndrome	17412756	CNVD
Down syndrome	17576883	CNVD
Acute promyelocytic leukemia	19109227	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	17387387	CNVD
Renal cell carcinoma	19461508	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	19156837	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
lymphocytic leukemia	21291569	CNVD
Melanoma	18172304	CNVD
Autism	22958593	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Wilms tumour	21544195	CNVD
Ewing''s sarcoma	17952124	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	16864856	CNVD
Mental retardation	21031080	CNVD
Polymicrogyria	21031080	CNVD
periventricular nodular heterotopia	21031080	CNVD
Myelodysplastic syndrome	21606161	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Autism	18414403	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Down syndrome	20877625	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Prostate cancer	21147910	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Prostate cancer	17245344	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1015 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40102600-40124800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr21:40113800-40119200	Weak transcription	Spleen	Spleen
3	chr21:40114000-40118800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr21:40114000-40119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:40114200-40119000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr21:40114400-40119000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr21:40115400-40129600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr21:40115800-40120600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr21:40116000-40123800	Weak transcription	Adipose Nuclei	Adipose
11	chr21:40116400-40119400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr21:40117600-40122600	Enhancers	Fetal Intestine Large	intestine
13	chr21:40118400-40122000	Enhancers	Fetal Intestine Small	intestine
14	chr21:40118800-40119000	Enhancers	Aorta	Aorta
15	chr21:40118800-40119200	Enhancers	Small Intestine	intestine
16	chr21:40118800-40119600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr21:40119000-40119200	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr21:40119000-40119800	Enhancers	HepG2	liver
19	chr21:40119000-40120600	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr21:40119000-40121800	Enhancers	Duodenum Mucosa	Duodenum
21	chr21:40119000-40122000	Weak transcription	Aorta	Aorta
22	chr21:40119200-40119400	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr21:40119200-40120200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:40119200-40120200	Enhancers	Colonic Mucosa	Colon
25	chr21:40119200-40120200	Enhancers	Spleen	Spleen
26	chr21:40119200-40120400	Weak transcription	Small Intestine	intestine
27	chr21:40119400-40119600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr21:40119400-40120200	Enhancers	Pancreas	Pancrea
29	chr21:40119400-40120600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr21:40119400-40120800	Enhancers	Liver	Liver
31	chr21:40119400-40120800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr21:40119600-40120600	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr21:40119600-40122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr21:40119800-40120200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr21:40119800-40120200	Flanking Active TSS	HepG2	liver
36	chr21:40120000-40120200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr21:40120000-40120200	Enhancers	Right Atrium	heart
38	chr21:40120000-40120600	Enhancers	Fetal Kidney	kidney
39	chr21:40120200-40120800	Enhancers	HepG2	liver
40	chr21:40120200-40121600	Weak transcription	Colonic Mucosa	Colon
41	chr21:40120200-40122400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr21:40120200-40124600	Weak transcription	Right Atrium	heart
43	chr21:40120200-40127600	Weak transcription	Spleen	Spleen
44	chr21:40120400-40120600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr21:40120400-40120800	Enhancers	Small Intestine	intestine
46	chr21:40120400-40122400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr21:40120600-40120800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr21:40120600-40122800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:40120600-40123600	Weak transcription	Fetal Kidney	kidney
50	chr21:40120600-40127400	Weak transcription	Rectal Mucosa Donor 31	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links