Variant report

Variant	nsv914050
Chromosome Location	chr21:46859717-46908355
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1589)
CpG islands
(count:2507)
Chromatin interactive
region (count:180)
LncRNA
region (count:11)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1589 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46868756-46869037	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46891572-46891934	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46898153-46898427	K562	blood:	n/a	n/a
4	ARID3A	chr21:46889563-46890145	HepG2	liver:	n/a	n/a
5	ATF3	chr21:46898009-46898253	K562	blood:	n/a	n/a
6	BACH1	chr21:46898059-46898296	K562	blood:	n/a	n/a
7	BACH1	chr21:46880570-46880918	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr21:46880593-46880928	K562	blood:	n/a	n/a
9	BACH1	chr21:46897996-46898292	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr21:46890718-46891213	GM12878	blood:	n/a	n/a
11	BCL3	chr21:46872696-46873552	GM12878	blood:	n/a	n/a
12	BCL3	chr21:46899132-46899531	GM12878	blood:	n/a	n/a
13	BCL3	chr21:46872766-46873415	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:46890784-46891041	GM12878	blood:	n/a	n/a
15	BHLHE40	chr21:46889231-46890054	HepG2	liver:	n/a	n/a
16	BHLHE40	chr21:46898027-46898282	K562	blood:	n/a	n/a
17	BHLHE40	chr21:46890747-46891213	GM12878	blood:	n/a	n/a
18	BHLHE40	chr21:46892467-46892613	HepG2	liver:	n/a	n/a
19	BHLHE40	chr21:46891635-46892013	HepG2	liver:	n/a	n/a
20	BHLHE40	chr21:46868617-46869195	HepG2	liver:	n/a	chr21:46869173-46869189 chr21:46869167-46869183
21	BHLHE40	chr21:46892655-46892824	GM12878	blood:	n/a	n/a
22	BRCA1	chr21:46898117-46898317	Hela-S3	cervix:	n/a	n/a
23	BRCA1	chr21:46889845-46889957	HepG2	liver:	n/a	n/a
24	BRCA1	chr21:46891552-46891788	HepG2	liver:	n/a	n/a
25	CBX3	chr21:46897851-46898601	K562	blood:	n/a	n/a
26	CCNT2	chr21:46902970-46903168	K562	blood:	n/a	n/a
27	CCNT2	chr21:46902209-46902212	K562	blood:	n/a	n/a
28	CEBPB	chr21:46898046-46898599	K562	blood:	n/a	chr21:46898401-46898412
29	CEBPB	chr21:46891590-46892001	HepG2	liver:	n/a	chr21:46891773-46891784
30	CEBPB	chr21:46874171-46874314	HepG2	liver:	n/a	n/a
31	CEBPB	chr21:46869861-46870000	K562	blood:	n/a	n/a
32	CEBPB	chr21:46898116-46898402	IMR90	lung:	n/a	n/a
33	CEBPB	chr21:46891627-46891871	HepG2	liver:	n/a	chr21:46891773-46891784
34	CEBPB	chr21:46869780-46869949	IMR90	lung:	n/a	n/a
35	CEBPB	chr21:46868960-46869208	HepG2	liver:	n/a	n/a
36	CEBPB	chr21:46865473-46865523	K562	blood:	n/a	n/a
37	CEBPB	chr21:46874798-46874993	IMR90	lung:	n/a	n/a
38	CEBPB	chr21:46874110-46874291	IMR90	lung:	n/a	n/a
39	CEBPB	chr21:46902260-46902266	K562	blood:	n/a	n/a
40	CEBPB	chr21:46891590-46891968	HepG2	liver:	n/a	chr21:46891773-46891784
41	CEBPB	chr21:46874230-46874254	K562	blood:	n/a	n/a
42	CEBPB	chr21:46874108-46874377	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:46898149-46898260	Hela-S3	cervix:	n/a	n/a
44	CEBPB	chr21:46869775-46870009	HepG2	liver:	n/a	n/a
45	CEBPB	chr21:46891152-46891481	IMR90	lung:	n/a	n/a
46	CEBPB	chr21:46891473-46892003	HepG2	liver:	n/a	chr21:46891773-46891784
47	CEBPB	chr21:46871246-46871259	HepG2	liver:	n/a	n/a
48	CEBPD	chr21:46889555-46889850	HepG2	liver:	n/a	n/a
49	CEBPD	chr21:46874148-46874398	HepG2	liver:	n/a	n/a
50	CEBPD	chr21:46868652-46868882	HepG2	liver:	n/a	n/a

(count:2507 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46867867-46867917	SAEC	small airway:	n/a
2	chr21:46900754-46900804	SK-N-MC	brain:	n/a
3	chr21:46880279-46880329	H1-hESC	embryonic stem cell:	embryo
4	chr21:46901728-46901778	HCM	heart:	n/a
5	chr21:46901728-46901778	CMK	blood:	n/a
6	chr21:46895659-46895709	Hela-S3	cervix:	n/a
7	chr21:46867867-46867917	SAEC	small airway:	n/a
8	chr21:46900754-46900804	SK-N-MC	brain:	n/a
9	chr21:46880279-46880329	H1-hESC	embryonic stem cell:	embryo
10	chr21:46901728-46901778	HCM	heart:	n/a
11	chr21:46901728-46901778	CMK	blood:	n/a
12	chr21:46895659-46895709	Hela-S3	cervix:	n/a
13	chr21:46875142-46875192	PANC-1	pancreas:	n/a
14	chr21:46860579-46860629	Caco-2	colon:	n/a
15	chr21:46900754-46900804	AoSMC	blood vessel:	n/a
16	chr21:46874243-46874293	RPTEC	kidney:	n/a
17	chr21:46868092-46868142	MCF10A-Er-Src	breast:	n/a
18	chr21:46897181-46897231	SKMC	muscle:	n/a
19	chr21:46876904-46876954	GM12878	blood:	n/a
20	chr21:46876731-46876781	AoSMC	blood vessel:	n/a
21	chr21:46863924-46863974	NT2-D1	testis:	n/a
22	chr21:46889296-46889346	HEK293	kidney:	embryo
23	chr21:46875417-46875467	ECC-1	luminal epithelium:	n/a
24	chr21:46875142-46875192	NHBE	bronchial:	n/a
25	chr21:46890907-46890957	GM12878	blood:	n/a
26	chr21:46876305-46876355	IMR90	lung:	fetal
27	chr21:46875433-46875483	SK-N-SH_RA	brain:	n/a
28	chr21:46888317-46888367	RPTEC	kidney:	n/a
29	chr21:46900754-46900804	CMK	blood:	n/a
30	chr21:46902264-46902314	GM12878	blood:	n/a
31	chr21:46860579-46860629	GM19239	blood:	n/a
32	chr21:46898789-46898839	HRCEpiC	kidney:	n/a
33	chr21:46902264-46902314	AG10803	skin:	n/a
34	chr21:46888317-46888367	HRPEpiC	eye:	n/a
35	chr21:46876731-46876781	Hela-S3	cervix:	n/a
36	chr21:46895659-46895709	HEEpiC	esophagus:	n/a
37	chr21:46875149-46875199	NHBE	bronchial:	n/a
38	chr21:46859983-46860033	HCM	heart:	n/a
39	chr21:46901728-46901778	AG09319	gingival:	n/a
40	chr21:46875433-46875483	ECC-1	luminal epithelium:	n/a
41	chr21:46902264-46902314	GM12892	blood:	n/a
42	chr21:46901728-46901778	AG09309	skin:	n/a
43	chr21:46876904-46876954	AG09309	skin:	n/a
44	chr21:46896174-46896224	SAEC	small airway:	n/a
45	chr21:46897181-46897231	HRPEpiC	eye:	n/a
46	chr21:46880279-46880329	MCF-7	breast:	n/a
47	chr21:46900754-46900804	LNCaP	prostate:	n/a
48	chr21:46875417-46875467	Caco-2	colon:	n/a
49	chr21:46897181-46897231	HIPEpiC	eye:	n/a
50	chr21:46875433-46875483	GM12878	blood:	n/a

(count:180 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46710867..46713346-chr21:46902258..46904212,2	K562	blood:
2	chr21:46493804..46495802-chr21:46858769..46860350,2	K562	blood:
3	chr19:2149910..2152771-chr21:46896335..46898616,2	MCF-7	breast:
4	chr21:46878521..46881227-chr21:46884366..46886401,3	MCF-7	breast:
5	chr21:46712087..46713036-chr21:46858995..46859999,7	MCF-7	breast:
6	chr21:46901426..46903468-chr21:47240521..47242930,2	K562	blood:
7	chr21:46559894..46560950-chr21:46858729..46859951,5	K562	blood:
8	chr21:46708041..46709626-chr21:46889364..46891279,2	MCF-7	breast:
9	chr21:46891518..46893189-chr21:46910052..46911584,2	MCF-7	breast:
10	chr21:46560100..46560839-chr21:46858997..46860040,3	MCF-7	breast:
11	chr21:46883443..46886184-chr21:46890178..46891779,2	MCF-7	breast:
12	chr21:46823833..46826041-chr21:46891537..46893617,2	MCF-7	breast:
13	chr21:46875422..46878249-chr21:46887446..46891029,3	MCF-7	breast:
14	chr21:46886366..46889897-chr21:46896542..46899002,4	K562	blood:
15	chr21:46881532..46885170-chr21:46887591..46890256,3	K562	blood:
16	chr21:46888790..46891767-chr21:46961151..46962932,2	MCF-7	breast:
17	chr21:46867738..46869339-chr21:46934384..46936608,2	K562	blood:
18	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:
19	chr21:46883295..46885368-chr21:46892849..46894550,2	MCF-7	breast:
20	chr21:46805692..46806328-chr21:46858998..46859922,2	MCF-7	breast:
21	chr21:46869676..46871930-chr21:46873413..46875413,4	MCF-7	breast:
22	chr21:46881386..46884375-chr21:46884703..46886434,2	K562	blood:
23	chr21:46901616..46903380-chr21:46909037..46911506,2	MCF-7	breast:
24	chr21:46896308..46898985-chr21:46908445..46910505,2	K562	blood:
25	chr21:46900749..46902915-chr21:46902932..46904435,2	MCF-7	breast:
26	chr21:46907439..46910029-chr21:46915252..46917425,2	MCF-7	breast:
27	chr21:46886399..46888507-chr21:46891960..46893848,2	MCF-7	breast:
28	chr21:46857659..46860680-chr21:46868789..46871536,3	K562	blood:
29	chr21:46857950..46860619-chr21:46882773..46885761,2	K562	blood:
30	chr21:46874922..46876910-chr21:46877464..46880044,2	K562	blood:
31	chr21:46908080..46910421-chr21:46961759..46963775,3	K562	blood:
32	chr21:46871530..46873136-chr21:46929726..46931688,2	MCF-7	breast:
33	chr21:46738519..46741397-chr21:46859195..46860905,2	MCF-7	breast:
34	chr21:46857950..46860619-chr21:46882773..46885761,2	K562	blood:
35	chr21:46895672..46900665-chr21:46900979..46909945,15	K562	blood:
36	chr21:46896740..46898482-chr21:46902488..46904592,2	MCF-7	breast:
37	chr21:46871175..46873535-chr21:46882895..46884844,2	K562	blood:
38	chr21:46893878..46896207-chr21:46896670..46900293,4	K562	blood:
39	chr21:46886469..46888654-chr21:46905872..46907665,2	MCF-7	breast:
40	chr21:46850548..46852928-chr21:46860513..46862305,2	K562	blood:
41	chr21:46891046..46893403-chr21:46931204..46935437,4	MCF-7	breast:
42	chr21:46858481..46860138-chr21:46865609..46867829,2	K562	blood:
43	chr21:46889052..46891454-chr21:46915702..46917912,2	MCF-7	breast:
44	chr21:46901152..46902849-chr21:46903999..46907633,3	K562	blood:
45	chr21:46711987..46713060-chr21:46859256..46859950,5	MCF-7	breast:
46	chr21:46888009..46889684-chr21:46894755..46896630,2	MCF-7	breast:
47	chr21:46822711..46825161-chr21:46884911..46887223,2	MCF-7	breast:
48	chr21:46851814..46853475-chr21:46908121..46909690,2	K562	blood:
49	chr21:46896313..46899192-chr21:46961154..46962755,2	K562	blood:
50	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082962
2	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082965
3	lnc-PCBP3-5	chr21:46903719-46903907	NONHSAT082964
4	lnc-PCBP3-5	chr21:46903719-46903843	NONHSAT082963
5	lnc-PCBP3-6	chr21:46897506-46897818	expReg_chr21_1994_+
6	lnc-SLC19A1-4	chr21:46904119-46904155	NONHSAT082962
7	lnc-PCBP3-5	chr21:46903999-46904118	NONHSAT082963
8	lnc-PCBP3-5	chr21:46904181-46904660	NONHSAT082963
9	lnc-PCBP3-5	chr21:46903999-46904660	NONHSAT082964
10	lnc-SLC19A1-4	chr21:46904119-46904660	NONHSAT082965
11	lnc-SLC19A1-4	chr21:46904222-46904660	NONHSAT082962

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6815-3p	chr21:46898220-46898240	MIMAT0027531
hsa-miR-6815-5p	chr21:46898185-46898207	MIMAT0027530

No data

Variant related genes	Relation type
COL18A1	TF binding region
COL18A1	CpG island
ENSG00000235374	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000228355	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000065000	chromatin interactions
ENSG00000124120	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000197381	chromatin interactions

Extended variants
information (count: 3239 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:3239 , 50 per page) page: 1 2 3 4 5 6 7 ... 65

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9980531	chr21:46859717-46859718	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181492854	chr21:46859737-46859738	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs199812501	chr21:46859739-46859740	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs539486115	chr21:46859757-46859758	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs114465799	chr21:46859767-46859768	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
6	rs576165651	chr21:46859775-46859776	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs62216303	chr21:46859818-46859819	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566364383	chr21:46859832-46859833	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs367614170	chr21:46859855-46859856	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs112970560	chr21:46859877-46859878	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs185243290	chr21:46859880-46859881	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs533640595	chr21:46859893-46859894	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs190573292	chr21:46859898-46859899	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs9981397	chr21:46859907-46859908	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs560501512	chr21:46859928-46859929	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs527703542	chr21:46859966-46859967	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs113376334	chr21:46859976-46859977	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs564455567	chr21:46860055-46860056	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs140687619	chr21:46860065-46860066	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs567265253	chr21:46860069-46860070	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs577725964	chr21:46860074-46860075	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs570639716	chr21:46860089-46860090	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs550442556	chr21:46860150-46860151	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs568673028	chr21:46860151-46860152	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs145770683	chr21:46860175-46860176	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs13048503	chr21:46860228-46860229	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368065737	chr21:46860236-46860237	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs367976440	chr21:46860270-46860271	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs148171874	chr21:46860272-46860273	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs565642242	chr21:46860273-46860274	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs13051462	chr21:46860317-46860318	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs181810361	chr21:46860331-46860332	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs28377305	chr21:46860374-46860375	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs28480409	chr21:46860383-46860384	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs539091979	chr21:46860387-46860388	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs112005453	chr21:46860392-46860393	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs150298460	chr21:46860396-46860397	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs536846001	chr21:46860401-46860402	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs113429786	chr21:46860424-46860425	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs555098431	chr21:46860483-46860484	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs573513350	chr21:46860518-46860519	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs541289344	chr21:46860520-46860521	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs553019269	chr21:46860524-46860525	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs376867461	chr21:46860537-46860538	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs572387769	chr21:46860543-46860544	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs56349111	chr21:46860546-46860547	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs137865059	chr21:46860565-46860566	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs576268735	chr21:46860587-46860588	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs535798100	chr21:46860597-46860598	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs113704221	chr21:46860616-46860617	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 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
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
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
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
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	17237825	CNVD
Cancer	20164919	CNVD
Lung cancer	21203850	CNVD
Ependymoma	20639864	CNVD
Schizophrenia	23813976	CNVD
Acute myeloid leukemia	19651600	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2072 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46855000-46866000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr21:46855000-46873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr21:46857800-46860600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr21:46857800-46868000	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr21:46857800-46868000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr21:46858200-46859800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr21:46858200-46859800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr21:46858200-46859800	Enhancers	Ovary	ovary
9	chr21:46858200-46860000	Enhancers	Fetal Heart	heart
10	chr21:46858200-46860200	Enhancers	Spleen	Spleen
11	chr21:46858400-46859800	Bivalent Enhancer	Placenta	Placenta
12	chr21:46858400-46859800	Enhancers	Lung	lung
13	chr21:46858400-46859800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr21:46858400-46859800	Enhancers	NHLF	lung
15	chr21:46858400-46860200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr21:46858600-46859800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr21:46858600-46859800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr21:46858600-46859800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:46858600-46859800	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr21:46858600-46860000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:46858800-46859800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr21:46858800-46859800	Enhancers	Primary hematopoietic stem cells	blood
23	chr21:46858800-46859800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr21:46858800-46859800	Enhancers	Esophagus	oesophagus
25	chr21:46858800-46859800	Enhancers	Fetal Thymus	thymus
26	chr21:46858800-46859800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
27	chr21:46858800-46860000	Enhancers	Primary B cells from peripheral blood	blood
28	chr21:46858800-46860000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr21:46858800-46860800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr21:46859000-46859800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr21:46859000-46859800	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr21:46859000-46859800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr21:46859000-46859800	Flanking Active TSS	Colonic Mucosa	Colon
34	chr21:46859000-46859800	Enhancers	Fetal Brain Male	brain
35	chr21:46859000-46859800	Enhancers	Stomach Mucosa	stomach
36	chr21:46859000-46859800	Enhancers	Dnd41	blood
37	chr21:46859200-46859800	Enhancers	H1 Cell Line	embryonic stem cell
38	chr21:46859200-46859800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr21:46859200-46859800	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr21:46859200-46859800	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr21:46859200-46859800	Flanking Active TSS	HepG2	liver
42	chr21:46859200-46860000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr21:46859200-46860000	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr21:46859200-46860600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr21:46859200-46861000	Weak transcription	A549	lung
46	chr21:46859200-46867600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr21:46859400-46859800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr21:46859400-46859800	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr21:46859400-46859800	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr21:46859400-46859800	Enhancers	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links