Variant report

Variant	nsv3541
Chromosome Location	chr21:46496415-46536629
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1127)
CpG islands
(count:611)
Chromatin interactive
region (count:108)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1127 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46531261-46531452	K562	blood:	n/a	n/a
2	ATF1	chr21:46498903-46499193	K562	blood:	n/a	n/a
3	ATF1	chr21:46496349-46496860	K562	blood:	n/a	n/a
4	ATF1	chr21:46529643-46530039	K562	blood:	n/a	n/a
5	ATF1	chr21:46531207-46531549	K562	blood:	n/a	n/a
6	ATF1	chr21:46534099-46534370	K562	blood:	n/a	n/a
7	ATF2	chr21:46529621-46530574	GM12878	blood:	n/a	n/a
8	ATF2	chr21:46529473-46530552	GM12878	blood:	n/a	n/a
9	BATF	chr21:46529662-46530153	GM12878	blood:	n/a	n/a
10	BCL11A	chr21:46529594-46530492	GM12878	blood:	n/a	chr21:46530053-46530062
11	BCL11A	chr21:46529637-46530103	GM12878	blood:	n/a	chr21:46530053-46530062
12	BCL3	chr21:46528747-46529445	GM12878	blood:	n/a	chr21:46529407-46529414
13	BCL3	chr21:46534988-46535459	GM12878	blood:	n/a	n/a
14	BCL3	chr21:46529622-46530110	GM12878	blood:	n/a	chr21:46530053-46530062
15	BCL3	chr21:46503474-46503734	GM12878	blood:	n/a	n/a
16	BCL3	chr21:46503926-46504434	GM12878	blood:	n/a	chr21:46504218-46504227
17	BCL3	chr21:46529613-46530171	GM12878	blood:	n/a	chr21:46530053-46530062
18	BCL3	chr21:46528869-46529449	GM12878	blood:	n/a	chr21:46529407-46529414
19	BCL3	chr21:46524380-46524870	A549	lung:	n/a	chr21:46524642-46524651
20	BCLAF1	chr21:46529619-46530549	GM12878	blood:	n/a	chr21:46530053-46530062
21	BCLAF1	chr21:46529561-46530593	GM12878	blood:	n/a	chr21:46530053-46530062
22	BHLHE40	chr21:46496509-46496518	K562	blood:	n/a	n/a
23	BHLHE40	chr21:46505787-46505948	K562	blood:	n/a	n/a
24	BHLHE40	chr21:46506997-46507437	GM12878	blood:	n/a	n/a
25	BHLHE40	chr21:46500319-46500505	K562	blood:	n/a	n/a
26	BHLHE40	chr21:46529448-46530565	GM12878	blood:	n/a	n/a
27	BHLHE40	chr21:46529711-46530249	K562	blood:	n/a	n/a
28	BHLHE40	chr21:46534196-46534308	K562	blood:	n/a	n/a
29	BHLHE40	chr21:46506459-46507351	K562	blood:	n/a	n/a
30	BHLHE40	chr21:46514491-46514538	K562	blood:	n/a	n/a
31	BHLHE40	chr21:46530804-46531383	GM12878	blood:	n/a	n/a
32	BRCA1	chr21:46508690-46508890	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr21:46529118-46529319	GM12878	blood:	n/a	n/a
34	BRCA1	chr21:46496269-46496689	Hela-S3	cervix:	n/a	n/a
35	CBX3	chr21:46530985-46531750	K562	blood:	n/a	n/a
36	CEBPB	chr21:46511322-46511632	Hela-S3	cervix:	n/a	n/a
37	CEBPB	chr21:46530838-46531108	H1-hESC	embryonic stem cell:	n/a	n/a
38	CEBPB	chr21:46498956-46499290	K562	blood:	n/a	chr21:46499104-46499115
39	CEBPB	chr21:46529736-46530056	GM12878	blood:	n/a	n/a
40	CEBPB	chr21:46530787-46531152	K562	blood:	n/a	n/a
41	CEBPB	chr21:46530901-46531101	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr21:46498908-46499579	IMR90	lung:	n/a	chr21:46499104-46499115
43	CEBPB	chr21:46511247-46511768	IMR90	lung:	n/a	n/a
44	CEBPB	chr21:46534175-46534436	IMR90	lung:	n/a	n/a
45	CEBPB	chr21:46508645-46508909	K562	blood:	n/a	chr21:46508725-46508736
46	CEBPB	chr21:46534096-46534332	K562	blood:	n/a	n/a
47	CEBPB	chr21:46508631-46508850	A549	lung:	n/a	chr21:46508725-46508736
48	CEBPB	chr21:46499005-46499290	A549	lung:	n/a	chr21:46499104-46499115
49	CEBPB	chr21:46530654-46531674	GM12878	blood:	n/a	n/a
50	CEBPB	chr21:46530854-46531109	K562	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46523729-46523779	NT2-D1	testis:	n/a
2	chr21:46523729-46523779	NT2-D1	testis:	n/a
3	chr21:46523156-46523206	H1-hESC	embryonic stem cell:	embryo
4	chr21:46505130-46505180	SK-N-SH	brain:	n/a
5	chr21:46523156-46523206	IMR90	lung:	fetal
6	chr21:46496510-46496560	U87	brain:	n/a
7	chr21:46499349-46499399	HRPEpiC	eye:	n/a
8	chr21:46505130-46505180	GM19239	blood:	n/a
9	chr21:46496510-46496560	ProgFib	skin:	n/a
10	chr21:46519669-46519719	Caco-2	colon:	n/a
11	chr21:46505130-46505180	CMK	blood:	n/a
12	chr21:46496510-46496560	HPAEpiC	pulmonary alveolar:	n/a
13	chr21:46523729-46523779	AG09319	gingival:	n/a
14	chr21:46523729-46523779	HCPEpiC	choroid plexus:	n/a
15	chr21:46518030-46518080	AoSMC	blood vessel:	n/a
16	chr21:46520883-46520933	AG04449	skin:	fetal
17	chr21:46519669-46519719	AG10803	skin:	n/a
18	chr21:46496510-46496560	AG09309	skin:	n/a
19	chr21:46523729-46523779	HRCEpiC	kidney:	n/a
20	chr21:46520883-46520933	NT2-D1	testis:	n/a
21	chr21:46518030-46518080	HAEpiC	amniotic membrane:	n/a
22	chr21:46521281-46521331	HepG2	liver:	n/a
23	chr21:46519669-46519719	SKMC	muscle:	n/a
24	chr21:46496510-46496560	ECC-1	luminal epithelium:	n/a
25	chr21:46518030-46518080	SK-N-SH_RA	brain:	n/a
26	chr21:46518030-46518080	HCPEpiC	choroid plexus:	n/a
27	chr21:46505130-46505180	HIPEpiC	eye:	n/a
28	chr21:46521050-46521100	CMK	blood:	n/a
29	chr21:46523156-46523206	NB4	blood:	n/a
30	chr21:46521050-46521100	HRCEpiC	kidney:	n/a
31	chr21:46519669-46519719	BE2_C	brain:	n/a
32	chr21:46523729-46523779	HRE	kidney:	n/a
33	chr21:46519669-46519719	MCF10A-Er-Src	breast:	n/a
34	chr21:46499349-46499399	ECC-1	luminal epithelium:	n/a
35	chr21:46499349-46499399	SAEC	small airway:	n/a
36	chr21:46519669-46519719	HepG2	liver:	n/a
37	chr21:46523729-46523779	ProgFib	skin:	n/a
38	chr21:46519669-46519719	HRE	kidney:	n/a
39	chr21:46521050-46521100	HMEC	breast:	n/a
40	chr21:46523156-46523206	NH-A	brain:	n/a
41	chr21:46496510-46496560	LNCaP	prostate:	n/a
42	chr21:46505130-46505180	HepG2	liver:	n/a
43	chr21:46496510-46496560	AoSMC	blood vessel:	n/a
44	chr21:46523156-46523206	HCF	heart:	n/a
45	chr21:46521050-46521100	HL-60	blood:	n/a
46	chr21:46520883-46520933	RPTEC	kidney:	n/a
47	chr21:46521050-46521100	AG09309	skin:	n/a
48	chr21:46521281-46521331	GM12878	blood:	n/a
49	chr21:46519669-46519719	HL-60	blood:	n/a
50	chr21:46505130-46505180	ECC-1	luminal epithelium:	n/a

(count:108 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type
1	chr21:46346684..46349434-chr21:46531378..46533130,2	MCF-7	breast:
2	chr21:46515041..46517271-chr21:46546796..46549469,2	K562	blood:
3	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
4	chr21:46382465..46395146-chr21:46491921..46496809,22	K562	blood:
5	chr21:46536536..46538761-chr21:46540192..46542423,2	K562	blood:
6	chr21:46220974..46223825-chr21:46494380..46498218,5	MCF-7	breast:
7	chr21:46511460..46514377-chr21:46529611..46531181,2	K562	blood:
8	chr21:46531155..46534014-chr21:46536221..46540491,4	K562	blood:
9	chr21:46515771..46517456-chr21:46546796..46548839,2	K562	blood:
10	chr21:46518590..46519096-chr21:46556955..46557660,2	MCF-7	breast:
11	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
12	chr21:46348334..46352514-chr21:46492914..46497675,5	K562	blood:
13	chr21:46420509..46434696-chr21:46492036..46497081,20	K562	blood:
14	chr21:46513400..46515958-chr21:46516220..46519288,3	MCF-7	breast:
15	chr21:46518601..46519817-chr21:46548279..46549154,6	MCF-7	breast:
16	chr21:46534608..46536339-chr21:46539154..46541485,2	K562	blood:
17	chr21:46413441..46419649-chr21:46493522..46496485,6	K562	blood:
18	chr21:46523822..46526157-chr21:46543907..46545528,2	MCF-7	breast:
19	chr21:46493165..46495720-chr21:46513762..46518212,6	MCF-7	breast:
20	chr21:46527215..46529238-chr21:46529546..46531877,2	MCF-7	breast:
21	chr21:46518746..46519428-chr21:46547460..46548013,2	MCF-7	breast:
22	chr21:46493305..46495041-chr21:46533530..46536007,3	K562	blood:
23	chr21:46492354..46499042-chr21:46517406..46531809,25	K562	blood:
24	chr21:46495879..46498410-chr21:46645680..46647627,2	K562	blood:
25	chr21:46231513..46241255-chr21:46492035..46497390,26	K562	blood:
26	chr21:46511460..46514377-chr21:46529611..46531181,2	K562	blood:
27	chr21:46525704..46527706-chr21:46528472..46530391,2	K562	blood:
28	chr21:46495410..46497788-chr21:46536429..46538983,2	K562	blood:
29	chr21:46497932..46499867-chr21:46537196..46539536,2	K562	blood:
30	chr21:46231904..46241990-chr21:46492035..46500735,28	K562	blood:
31	chr21:46493396..46496965-chr21:46524044..46525744,3	MCF-7	breast:
32	chr21:46495351..46497648-chr21:46516468..46519256,2	MCF-7	breast:
33	chr21:46518494..46519459-chr21:46548253..46549180,7	MCF-7	breast:
34	chr21:46493538..46495350-chr21:46535458..46537231,2	K562	blood:
35	chr21:46504412..46507168-chr21:46508200..46509950,2	K562	blood:
36	chr21:46505531..46507502-chr21:46545208..46547761,2	MCF-7	breast:
37	chr21:46493665..46495274-chr21:46510710..46513297,2	MCF-7	breast:
38	chr21:46348854..46378176-chr21:46489799..46500436,75	K562	blood:
39	chr21:46524740..46528756-chr21:46537470..46542914,5	K562	blood:
40	chr21:46499894..46505152-chr21:46506062..46510299,9	MCF-7	breast:
41	chr21:46495151..46497006-chr21:46906877..46909626,2	K562	blood:
42	chr21:46519046..46522635-chr21:46528087..46531462,4	K562	blood:
43	chr21:46504412..46507168-chr21:46508200..46509950,2	K562	blood:
44	chr21:46525858..46528756-chr21:46540058..46542914,3	K562	blood:
45	chr21:46493525..46497229-chr21:46506258..46510035,5	MCF-7	breast:
46	chr21:46493459..46496695-chr21:46925543..46928917,3	K562	blood:
47	chr11:65663723..65666241-chr21:46495274..46498090,2	K562	blood:
48	chr21:46500190..46501705-chr21:46518779..46520799,2	K562	blood:
49	chr21:46527903..46530135-chr21:46532581..46534213,2	MCF-7	breast:
50	chr21:46502343..46504540-chr21:46529179..46531267,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM207A-9	chr21:46529343-46530507	predAs_engstrom06_BG177516_1

No data

Variant related genes	Relation type
ENSG00000267857	TF binding region
ADARB1	TF binding region
ENSG00000268805	TF binding region
SSR4P1	TF binding region
ENSG00000268856	TF binding region
ENSG00000267857	CpG island
ADARB1	CpG island
ENSG00000268805	CpG island
SSR4P1	CpG island
ENSG00000268856	CpG island
ENSG00000234880	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000268805	chromatin interactions
ENSG00000166224	chromatin interactions
ENSG00000261706	chromatin interactions
ENSG00000184678	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000267857	chromatin interactions
ENSG00000160255	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000184900	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000272825	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000224930	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000184260	chromatin interactions
ENSG00000160256	chromatin interactions

Extended variants
information (count: 1552 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:1552 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376147047	chr21:46496426-46496427	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs111956518	chr21:46496500-46496501	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs113807932	chr21:46496501-46496502	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs553267402	chr21:46496521-46496522	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs564981020	chr21:46496542-46496543	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
6	rs544863161	chr21:46496546-46496547	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs563439516	chr21:46496576-46496577	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
8	rs185621449	chr21:46496585-46496586	Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
9	rs542268924	chr21:46496633-46496634	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
10	rs560563762	chr21:46496653-46496654	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
11	rs527566500	chr21:46496678-46496679	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
12	rs546913085	chr21:46496686-46496687	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
13	rs565217687	chr21:46496710-46496711	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
14	rs151055998	chr21:46496730-46496731	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
15	rs550883380	chr21:46496743-46496744	Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
16	rs116952715	chr21:46496824-46496825	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
17	rs141315156	chr21:46496836-46496837	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs7276867	chr21:46496880-46496881	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs377246854	chr21:46496920-46496921	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs12482952	chr21:46496921-46496922	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs545770308	chr21:46496923-46496924	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
22	rs12152096	chr21:46496949-46496950	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	17 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs553330641	chr21:46497015-46497016	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
24	rs374945927	chr21:46497047-46497048	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
25	rs151279094	chr21:46497055-46497056	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
26	rs538291367	chr21:46497062-46497063	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
27	rs577852031	chr21:46497064-46497065	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
28	rs368164185	chr21:46497099-46497100	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
29	rs57818820	chr21:46497106-46497107	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
30	rs117741617	chr21:46497134-46497135	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
31	rs188471887	chr21:46497146-46497147	Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
32	rs542332369	chr21:46497256-46497257	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
33	rs370547259	chr21:46497270-46497271	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
34	rs560624163	chr21:46497303-46497304	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
35	rs572535643	chr21:46497307-46497308	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
36	rs539825419	chr21:46497319-46497320	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
37	rs565610487	chr21:46497346-46497347	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
38	rs549618337	chr21:46497347-46497348	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
39	rs199774635	chr21:46497352-46497353	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
40	rs551206749	chr21:46497354-46497355	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
41	rs371882678	chr21:46497357-46497358	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
42	rs562950157	chr21:46497360-46497361	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
43	rs112798646	chr21:46497362-46497363	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
44	rs181840745	chr21:46497376-46497377	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
45	rs556585911	chr21:46497379-46497380	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
46	rs566948251	chr21:46497396-46497397	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
47	rs547698392	chr21:46497408-46497409	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
48	rs552603833	chr21:46497428-46497429	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
49	rs570779176	chr21:46497438-46497439	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
50	rs146861948	chr21:46497439-46497440	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Williams-beuren syndrome	16826523	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:1897 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46493600-46496600	Active TSS	HSMM	muscle
2	chr21:46493600-46496800	Active TSS	Aorta	Aorta
3	chr21:46495000-46496600	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr21:46495000-46496600	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr21:46495200-46496600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr21:46495200-46496600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr21:46495200-46496600	Flanking Active TSS	K562	blood
8	chr21:46495400-46496600	Flanking Active TSS	HUVEC	blood vessel
9	chr21:46495400-46496600	Flanking Active TSS	NHEK	skin
10	chr21:46495400-46496600	Flanking Active TSS	Osteobl	bone
11	chr21:46495400-46497000	Enhancers	Fetal Heart	heart
12	chr21:46495400-46497200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr21:46495600-46496600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr21:46495600-46496600	Enhancers	Placenta Amnion	Placenta Amnion
15	chr21:46495600-46496800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr21:46495600-46497000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr21:46495600-46497000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr21:46495600-46500200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:46495600-46501400	Weak transcription	Gastric	stomach
20	chr21:46495800-46496600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:46495800-46496600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
22	chr21:46495800-46496600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
23	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr21:46495800-46496600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr21:46495800-46496600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr21:46495800-46496600	Flanking Active TSS	Dnd41	blood
28	chr21:46495800-46496600	Active TSS	NHLF	lung
29	chr21:46495800-46496800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr21:46495800-46496800	Enhancers	Placenta	Placenta
31	chr21:46495800-46497200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:46495800-46497200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr21:46495800-46497400	Weak transcription	A549	lung
34	chr21:46495800-46498400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr21:46495800-46498800	Weak transcription	NH-A	brain
36	chr21:46495800-46501400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr21:46495800-46502600	Weak transcription	Colonic Mucosa	Colon
38	chr21:46495800-46506000	Weak transcription	Pancreas	Pancrea
39	chr21:46496000-46496600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr21:46496000-46496800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr21:46496000-46497000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr21:46496000-46497000	Flanking Active TSS	Hela-S3	cervix
43	chr21:46496000-46497000	Flanking Active TSS	HMEC	breast
44	chr21:46496200-46496600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
45	chr21:46496200-46496600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
46	chr21:46496200-46496600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr21:46496200-46496600	Enhancers	Adipose Nuclei	Adipose
48	chr21:46496200-46496600	Enhancers	Brain Angular Gyrus	brain
49	chr21:46496200-46496600	Enhancers	Colon Smooth Muscle	Colon
50	chr21:46496200-46496600	Bivalent Enhancer	Fetal Brain Female	brain

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