Variant report

Variant	esv3355416
Chromosome Location	chr21:46492024-46497122
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:589)
CpG islands
(count:915)
Chromatin interactive
region (count:75)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:589 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46493354-46493814	K562	blood:	n/a	n/a
2	ARID3A	chr21:46493453-46493650	HepG2	liver:	n/a	n/a
3	ATF1	chr21:46496349-46496860	K562	blood:	n/a	n/a
4	BACH1	chr21:46494113-46495614	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr21:46494121-46494391	K562	blood:	n/a	n/a
6	BCL11A	chr21:46493987-46494414	GM12878	blood:	n/a	chr21:46494282-46494295 chr21:46494353-46494366 chr21:46494207-46494220
7	BCL11A	chr21:46493950-46494241	GM12878	blood:	n/a	chr21:46494207-46494220
8	BCL3	chr21:46493435-46495331	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494993-46495006 chr21:46494353-46494366 chr21:46494989-46495002 chr21:46494938-46494951 chr21:46494830-46494839 chr21:46494988-46495001 chr21:46494207-46494220
9	BCL3	chr21:46494511-46495183	K562	blood:	n/a	chr21:46494993-46495006 chr21:46494989-46495002 chr21:46494938-46494951 chr21:46494830-46494839 chr21:46494988-46495001
10	BCL3	chr21:46493640-46494414	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494353-46494366 chr21:46494207-46494220
11	BCLAF1	chr21:46493450-46494317	K562	blood:	n/a	chr21:46494282-46494295 chr21:46494207-46494220
12	BCLAF1	chr21:46493444-46494093	K562	blood:	n/a	n/a
13	BHLHE40	chr21:46493364-46494410	K562	blood:	n/a	chr21:46493432-46493448 chr21:46493397-46493413
14	BHLHE40	chr21:46496509-46496518	K562	blood:	n/a	n/a
15	BHLHE40	chr21:46494035-46494271	HepG2	liver:	n/a	n/a
16	BHLHE40	chr21:46494036-46494443	GM12878	blood:	n/a	n/a
17	BRCA1	chr21:46496269-46496689	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr21:46494054-46494313	HepG2	liver:	n/a	n/a
19	CBX3	chr21:46493338-46493884	K562	blood:	n/a	n/a
20	CCNT2	chr21:46492880-46495557	K562	blood:	n/a	n/a
21	CEBPB	chr21:46493230-46493845	MCF-7	breast:	n/a	n/a
22	CEBPB	chr21:46493462-46493677	IMR90	lung:	n/a	n/a
23	CEBPB	chr21:46493461-46493741	K562	blood:	n/a	n/a
24	CEBPB	chr21:46496291-46496640	Hela-S3	cervix:	n/a	n/a
25	CEBPB	chr21:46493170-46493926	MCF-7	breast:	n/a	n/a
26	CEBPB	chr21:46493373-46493892	K562	blood:	n/a	n/a
27	CEBPD	chr21:46493677-46493891	HepG2	liver:	n/a	n/a
28	CEBPD	chr21:46493624-46495183	HepG2	liver:	n/a	n/a
29	CEBPD	chr21:46493939-46494434	HepG2	liver:	n/a	n/a
30	CEBPD	chr21:46493291-46494448	K562	blood:	n/a	n/a
31	CEBPD	chr21:46493246-46495249	K562	blood:	n/a	n/a
32	CHD1	chr21:46495102-46495228	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD1	chr21:46494866-46494915	GM12878	blood:	n/a	n/a
34	CHD1	chr21:46493137-46497321	IMR90	lung:	n/a	n/a
35	CHD1	chr21:46494141-46494332	GM12878	blood:	n/a	n/a
36	CHD1	chr21:46496048-46496056	GM12878	blood:	n/a	n/a
37	CHD2	chr21:46493723-46494288	GM12878	blood:	n/a	n/a
38	CHD2	chr21:46494060-46494231	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr21:46496162-46496541	Hela-S3	cervix:	n/a	n/a
40	CHD2	chr21:46495051-46495240	HepG2	liver:	n/a	n/a
41	CHD2	chr21:46493273-46494340	K562	blood:	n/a	n/a
42	CHD2	chr21:46494950-46495387	K562	blood:	n/a	n/a
43	CHD2	chr21:46495147-46495335	GM12878	blood:	n/a	n/a
44	CHD2	chr21:46493646-46494239	HepG2	liver:	n/a	n/a
45	CHD2	chr21:46493766-46494590	Hela-S3	cervix:	n/a	n/a
46	CHD2	chr21:46495062-46495393	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr21:46493295-46494593	HepG2	liver:	n/a	n/a
48	CREB1	chr21:46493983-46494586	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr21:46493985-46494470	A549	lung:	n/a	n/a
50	CREB1	chr21:46493606-46494539	K562	blood:	n/a	n/a

(count:915 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46493345-46493395	GM12878	blood:	n/a
2	chr21:46492634-46492684	SK-N-SH	brain:	n/a
3	chr21:46494378-46494428	PFSK-1	brain:	n/a
4	chr21:46492634-46492684	NB4	blood:	n/a
5	chr21:46496180-46496230	RPTEC	kidney:	n/a
6	chr21:46493345-46493395	Hepatocyte	liver:	n/a
7	chr21:46494274-46494324	AG10803	skin:	n/a
8	chr21:46493289-46493339	U87	brain:	n/a
9	chr21:46493289-46493339	HEK293	kidney:	embryo
10	chr21:46493289-46493339	PANC-1	pancreas:	n/a
11	chr21:46492634-46492684	U87	brain:	n/a
12	chr21:46492634-46492684	Hepatocyte	liver:	n/a
13	chr21:46492634-46492684	BJ	skin:	n/a
14	chr21:46493436-46493486	HRCEpiC	kidney:	n/a
15	chr21:46494378-46494428	MCF-7	breast:	n/a
16	chr21:46493345-46493395	AG10803	skin:	n/a
17	chr21:46495389-46495439	ECC-1	luminal epithelium:	n/a
18	chr21:46494133-46494183	MCF10A-Er-Src	breast:	n/a
19	chr21:46493156-46493206	IMR90	lung:	fetal
20	chr21:46495389-46495439	H1-hESC	embryonic stem cell:	embryo
21	chr21:46495389-46495439	GM12878	blood:	n/a
22	chr21:46496180-46496230	HL-60	blood:	n/a
23	chr21:46496180-46496230	HMEC	breast:	n/a
24	chr21:46495389-46495439	T-47D	breast:	n/a
25	chr21:46493156-46493206	Hepatocyte	liver:	n/a
26	chr21:46494133-46494183	SKMC	muscle:	n/a
27	chr21:46494274-46494324	HRE	kidney:	n/a
28	chr21:46493436-46493486	HCPEpiC	choroid plexus:	n/a
29	chr21:46495607-46495657	H1-hESC	embryonic stem cell:	embryo
30	chr21:46492095-46492145	AG04450	lung:	fetal
31	chr21:46493289-46493339	GM12892	blood:	n/a
32	chr21:46493289-46493339	H1-hESC	embryonic stem cell:	embryo
33	chr21:46493156-46493206	K562	blood:	n/a
34	chr21:46494133-46494183	HCF	heart:	n/a
35	chr21:46495389-46495439	AoSMC	blood vessel:	n/a
36	chr21:46493169-46493219	NHDF-neo	bronchial:	n/a
37	chr21:46494274-46494324	AoSMC	blood vessel:	n/a
38	chr21:46494274-46494324	HRCEpiC	kidney:	n/a
39	chr21:46496510-46496560	GM19239	blood:	n/a
40	chr21:46492095-46492145	U87	brain:	n/a
41	chr21:46493345-46493395	HMEC	breast:	n/a
42	chr21:46492095-46492145	Hepatocyte	liver:	n/a
43	chr21:46495607-46495657	ProgFib	skin:	n/a
44	chr21:46493436-46493486	HRE	kidney:	n/a
45	chr21:46496510-46496560	U87	brain:	n/a
46	chr21:46496510-46496560	NB4	blood:	n/a
47	chr21:46495389-46495439	SK-N-SH	brain:	n/a
48	chr21:46496510-46496560	PANC-1	pancreas:	n/a
49	chr21:46493156-46493206	NHBE	bronchial:	n/a
50	chr21:46492634-46492684	AG04450	lung:	fetal

(count:75 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:46494805..46496748-chr21:46849949..46852672,3	K562	blood:
2	chr21:46330635..46333372-chr21:46493231..46495849,2	K562	blood:
3	chr21:46493904..46495468-chr21:46952040..46954795,2	K562	blood:
4	chr21:46329082..46330961-chr21:46492504..46494830,2	MCF-7	breast:
5	chr21:46494831..46496533-chr21:46576092..46578670,2	K562	blood:
6	chr17:73775438..73776361-chr21:46493887..46494850,2	NB4	blood:
7	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
8	chr21:45553290..45555675-chr21:46493657..46496135,2	K562	blood:
9	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
10	chr21:46474464..46475039-chr21:46493072..46493764,2	MCF-7	breast:
11	chr21:44393563..44395189-chr21:46493572..46495769,2	K562	blood:
12	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:
13	chr21:46220151..46222677-chr21:46492186..46495962,3	K562	blood:
14	chr21:46492324..46495855-chr21:46960806..46963103,3	K562	blood:
15	chr21:46493821..46495801-chr21:46704505..46706122,2	K562	blood:
16	chr21:46354394..46357381-chr21:46492511..46494330,2	MCF-7	breast:
17	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
18	chr21:46355061..46362857-chr21:46490375..46496482,13	K562	blood:
19	chr15:83679404..83681095-chr21:46492672..46494798,2	MCF-7	breast:
20	chr21:46494888..46496545-chr21:46914062..46916067,2	K562	blood:
21	chr21:46345821..46352717-chr21:46492682..46495835,7	MCF-7	breast:
22	chr21:46493355..46495349-chr6:20402517..20405350,2	K562	blood:
23	chr21:46292272..46294074-chr21:46492667..46495373,2	MCF-7	breast:
24	chr21:46387463..46395588-chr21:46492597..46498092,12	K562	blood:
25	chr21:46493602..46496021-chr6:27113430..27116414,2	K562	blood:
26	chr21:46494891..46496808-chr21:46543893..46546977,3	K562	blood:
27	chr21:46292697..46294233-chr21:46492293..46494359,2	K562	blood:
28	chr21:46494890..46496733-chr21:46901945..46904600,2	K562	blood:
29	chr1:21112741..21113311-chr21:46495175..46495793,2	Hela-S3	cervix:
30	chr1:115300107..115301819-chr21:46494563..46496100,2	K562	blood:
31	chr14:31495841..31497461-chr21:46493757..46496010,2	K562	blood:
32	chr21:46492557..46494672-chr5:76381901..76384633,2	MCF-7	breast:
33	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
34	chr21:46493898..46494600-chr4:57301885..57302711,2	HCT-116	colon:
35	chr21:46493305..46495041-chr21:46533530..46536007,3	K562	blood:
36	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
37	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
38	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
39	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
40	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
41	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
42	chr21:46349055..46351032-chr21:46493561..46495184,2	MCF-7	breast:
43	chr21:46422255..46425486-chr21:46493644..46496852,6	K562	blood:
44	chr21:46474279..46475026-chr21:46493041..46493703,3	MCF-7	breast:
45	chr19:40336793..40337645-chr21:46493997..46494626,2	HCT-116	colon:
46	chr21:46495151..46497006-chr21:46906877..46909626,2	K562	blood:
47	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
48	chr21:46411461..46416034-chr21:46491875..46495276,6	MCF-7	breast:
49	chr21:45758282..45760774-chr21:46492663..46495375,2	K562	blood:
50	chr21:46398654..46417262-chr21:46491498..46498908,48	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf67-11	chr21:46491743-46492154	NONHSAT082916
2	lnc-C21orf67-11	chr21:46490871-46493126	NONHSAT082913
3	lnc-C21orf67-11	chr21:46492326-46492595	NONHSAT082914
4	lnc-C21orf67-11	chr21:46490870-46493126	NR_027292
5	lnc-C21orf67-11	chr21:46491636-46492238	NONHSAT082914

No data

Variant related genes	Relation type
ADARB1	TF binding region
SSR4P1	TF binding region
ENSG00000268856	TF binding region
ADARB1	CpG island
SSR4P1	CpG island
ENSG00000268856	CpG island
ENSG00000267857	chromatin interactions
ENSG00000160199	chromatin interactions
ENSG00000048740	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000268805	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000261135	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000132846	chromatin interactions
ENSG00000169609	chromatin interactions
ENSG00000206652	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000198399	chromatin interactions
ENSG00000234880	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000127483	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000128050	chromatin interactions
ENSG00000178035	chromatin interactions
ENSG00000265565	chromatin interactions
ENSG00000009307	chromatin interactions
ENSG00000183535	chromatin interactions
ENSG00000261706	chromatin interactions
ENSG00000197903	chromatin interactions
ENSG00000105202	chromatin interactions
ENSG00000250802	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000224930	chromatin interactions
ENSG00000272825	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000232969	chromatin interactions

Extended variants
information (count: 214 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:214 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527856671	chr21:46492026-46492027	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs113357027	chr21:46492032-46492033	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
3	rs185870903	chr21:46492040-46492041	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
4	rs570936738	chr21:46492082-46492083	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
5	rs538277142	chr21:46492096-46492097	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
6	rs549899328	chr21:46492156-46492157	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
7	rs61738763	chr21:46492164-46492165	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs536157654	chr21:46492175-46492176	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
9	rs554806163	chr21:46492184-46492185	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
10	rs541792543	chr21:46492190-46492191	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
11	rs572715696	chr21:46492209-46492210	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
12	rs533709961	chr21:46492218-46492219	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
13	rs72552319	chr21:46492229-46492230	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
14	rs61739872	chr21:46492244-46492245	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	Overlapped CNVs	n/a
15	rs2838769	chr21:46492270-46492271	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs544234730	chr21:46492316-46492317	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	15 gene(s)	Overlapped CNVs	n/a
17	rs3761398	chr21:46492331-46492332	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
18	rs112131214	chr21:46492335-46492336	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
19	rs542176108	chr21:46492356-46492357	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
20	rs560741897	chr21:46492367-46492368	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
21	rs141331750	chr21:46492390-46492391	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
22	rs72552320	chr21:46492394-46492395	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
23	rs564611825	chr21:46492400-46492401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
24	rs73230653	chr21:46492401-46492402	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550203285	chr21:46492405-46492406	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
26	rs568370603	chr21:46492410-46492411	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
27	rs535806382	chr21:46492411-46492412	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
28	rs548101405	chr21:46492434-46492435	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
29	rs375901049	chr21:46492442-46492443	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
30	rs566406789	chr21:46492490-46492491	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
31	rs192197874	chr21:46492507-46492508	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
32	rs375022417	chr21:46492520-46492521	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
33	rs369364371	chr21:46492521-46492522	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
34	rs570257599	chr21:46492532-46492533	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
35	rs537555249	chr21:46492533-46492534	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a
36	rs372897253	chr21:46492566-46492567	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
37	rs565482814	chr21:46492571-46492572	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
38	rs574373724	chr21:46492651-46492652	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
39	rs111813185	chr21:46492652-46492653	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
40	rs532726993	chr21:46492663-46492664	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	Overlapped CNVs	n/a
41	rs369513394	chr21:46492741-46492742	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
42	rs560456945	chr21:46492764-46492765	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
43	rs554540643	chr21:46492779-46492780	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
44	rs572766744	chr21:46492781-46492782	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
45	rs2838770	chr21:46492897-46492898	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145121069	chr21:46492918-46492919	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	23 gene(s)	Overlapped CNVs	n/a
47	rs915814	chr21:46493003-46493004	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs543566160	chr21:46493017-46493018	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
49	rs112113119	chr21:46493076-46493077	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a
50	rs530071304	chr21:46493120-46493121	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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 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
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
Breast cancer	21858162	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17899364	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	20473283	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	17457615	CNVD
Ewing''s sarcoma	21437220	CNVD
Lung adenocarcinoma	17086460	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Gastric adenocarcinoma	19115996	CNVD
Acute myeloid leukemia	21358987	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Prostate cancer	23341502	CNVD
Ovarian cancer	21720365	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	21251322	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Cholangiocarcinoma	16830362	CNVD
Down syndrome	17334655	CNVD
Neuroticism	17667963	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Autoimmune polyendocrine syndrome	18200029	CNVD
Prostate cancer	19363497	CNVD
Lung cancer	17086460	CNVD
Olfactory neuroblastoma	18408657	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Multiple myeloma	16616336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Williams-beuren syndrome	16826523	CNVD

Chromatin state (count:728 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46475200-46493400	Weak transcription	Right Atrium	heart
2	chr21:46475400-46493200	Weak transcription	Spleen	Spleen
3	chr21:46484600-46493400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr21:46484800-46493200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr21:46485400-46492800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr21:46485600-46493600	Weak transcription	Aorta	Aorta
7	chr21:46487600-46493200	Enhancers	Fetal Muscle Trunk	muscle
8	chr21:46487800-46493200	Weak transcription	Fetal Heart	heart
9	chr21:46487800-46493600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:46488200-46493400	Weak transcription	Primary T cells from cord blood	blood
11	chr21:46489200-46492600	Enhancers	HSMM	muscle
12	chr21:46489600-46493400	Enhancers	HSMMtube	muscle
13	chr21:46489800-46492200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr21:46489800-46492400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr21:46489800-46493200	Weak transcription	Hela-S3	cervix
16	chr21:46489800-46493400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr21:46490200-46492600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr21:46490200-46492800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:46490200-46493200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr21:46490200-46493200	Weak transcription	Esophagus	oesophagus
21	chr21:46490200-46493400	Weak transcription	NH-A	brain
22	chr21:46490400-46492400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr21:46490400-46492600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr21:46490400-46492800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr21:46490400-46493200	Weak transcription	HMEC	breast
26	chr21:46490400-46493200	Weak transcription	NHEK	skin
27	chr21:46490400-46493400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr21:46490600-46492600	Weak transcription	Placenta	Placenta
29	chr21:46490600-46493200	Weak transcription	Fetal Intestine Small	intestine
30	chr21:46491000-46492600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr21:46491000-46493200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr21:46491000-46493400	Weak transcription	Brain Substantia Nigra	brain
33	chr21:46491200-46492800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr21:46491200-46493200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr21:46491600-46492400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:46491600-46492800	Weak transcription	K562	blood
37	chr21:46491600-46493200	Genic enhancers	Fetal Muscle Leg	muscle
38	chr21:46491600-46493600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr21:46491800-46492200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr21:46492000-46492400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr21:46492200-46492400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr21:46492200-46492800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr21:46492200-46493200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr21:46492200-46493400	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr21:46492400-46492600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:46492400-46493000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr21:46492400-46493200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr21:46492400-46493600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr21:46492600-46492800	Active TSS	Gastric	stomach
50	chr21:46492600-46493000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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