Variant report

Variant	nsv459306
Chromosome Location	chr21:46868829-46919132
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1523)
CpG islands
(count:2932)
Chromatin interactive
region (count:161)
LncRNA
region (count:11)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

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	chr21:46889563-46890145	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:46891572-46891934	HepG2	liver:	n/a	n/a
4	ARID3A	chr21:46898153-46898427	K562	blood:	n/a	n/a
5	ATF3	chr21:46898009-46898253	K562	blood:	n/a	n/a
6	BACH1	chr21:46897996-46898292	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr21:46898059-46898296	K562	blood:	n/a	n/a
8	BACH1	chr21:46880593-46880928	K562	blood:	n/a	n/a
9	BACH1	chr21:46880570-46880918	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCL11A	chr21:46890718-46891213	GM12878	blood:	n/a	n/a
11	BCL3	chr21:46915438-46916039	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	BCL3	chr21:46872696-46873552	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:46890784-46891041	GM12878	blood:	n/a	n/a
16	BHLHE40	chr21:46868617-46869195	HepG2	liver:	n/a	chr21:46869173-46869189 chr21:46869167-46869183
17	BHLHE40	chr21:46891635-46892013	HepG2	liver:	n/a	n/a
18	BHLHE40	chr21:46892655-46892824	GM12878	blood:	n/a	n/a
19	BHLHE40	chr21:46892467-46892613	HepG2	liver:	n/a	n/a
20	BHLHE40	chr21:46890747-46891213	GM12878	blood:	n/a	n/a
21	BHLHE40	chr21:46889231-46890054	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:46898027-46898282	K562	blood:	n/a	n/a
23	BRCA1	chr21:46898117-46898317	Hela-S3	cervix:	n/a	n/a
24	BRCA1	chr21:46889845-46889957	HepG2	liver:	n/a	n/a
25	BRCA1	chr21:46891552-46891788	HepG2	liver:	n/a	n/a
26	CBX3	chr21:46897851-46898601	K562	blood:	n/a	n/a
27	CCNT2	chr21:46902209-46902212	K562	blood:	n/a	n/a
28	CCNT2	chr21:46902970-46903168	K562	blood:	n/a	n/a
29	CEBPB	chr21:46874108-46874377	HepG2	liver:	n/a	n/a
30	CEBPB	chr21:46868960-46869208	HepG2	liver:	n/a	n/a
31	CEBPB	chr21:46869775-46870009	HepG2	liver:	n/a	n/a
32	CEBPB	chr21:46898046-46898599	K562	blood:	n/a	chr21:46898401-46898412
33	CEBPB	chr21:46869780-46869949	IMR90	lung:	n/a	n/a
34	CEBPB	chr21:46891590-46892001	HepG2	liver:	n/a	chr21:46891773-46891784
35	CEBPB	chr21:46871246-46871259	HepG2	liver:	n/a	n/a
36	CEBPB	chr21:46874171-46874314	HepG2	liver:	n/a	n/a
37	CEBPB	chr21:46898116-46898402	IMR90	lung:	n/a	n/a
38	CEBPB	chr21:46874230-46874254	K562	blood:	n/a	n/a
39	CEBPB	chr21:46869861-46870000	K562	blood:	n/a	n/a
40	CEBPB	chr21:46874798-46874993	IMR90	lung:	n/a	n/a
41	CEBPB	chr21:46891590-46891968	HepG2	liver:	n/a	chr21:46891773-46891784
42	CEBPB	chr21:46891152-46891481	IMR90	lung:	n/a	n/a
43	CEBPB	chr21:46891473-46892003	HepG2	liver:	n/a	chr21:46891773-46891784
44	CEBPB	chr21:46891627-46891871	HepG2	liver:	n/a	chr21:46891773-46891784
45	CEBPB	chr21:46902260-46902266	K562	blood:	n/a	n/a
46	CEBPB	chr21:46874110-46874291	IMR90	lung:	n/a	n/a
47	CEBPB	chr21:46898149-46898260	Hela-S3	cervix:	n/a	n/a
48	CEBPD	chr21:46868911-46869247	HepG2	liver:	n/a	n/a
49	CEBPD	chr21:46891669-46891967	HepG2	liver:	n/a	n/a
50	CEBPD	chr21:46892421-46892815	HepG2	liver:	n/a	n/a

(count:2932 , 50 per page) page: 1 2 3 4 5 6 7 ... 59

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46876904-46876954	MCF10A-Er-Src	breast:	n/a
2	chr21:46876385-46876435	SKMC	muscle:	n/a
3	chr21:46897181-46897231	ECC-1	luminal epithelium:	n/a
4	chr21:46898610-46898660	NHDF-neo	bronchial:	n/a
5	chr21:46876904-46876954	MCF10A-Er-Src	breast:	n/a
6	chr21:46876385-46876435	SKMC	muscle:	n/a
7	chr21:46897181-46897231	ECC-1	luminal epithelium:	n/a
8	chr21:46898610-46898660	NHDF-neo	bronchial:	n/a
9	chr21:46912506-46912556	SK-N-SH_RA	brain:	n/a
10	chr21:46891093-46891143	CMK	blood:	n/a
11	chr21:46918189-46918239	HRCEpiC	kidney:	n/a
12	chr21:46912423-46912473	AG10803	skin:	n/a
13	chr21:46898048-46898098	Jurkat	blood:	n/a
14	chr21:46890849-46890899	ovcar-3	ovarian:	n/a
15	chr21:46891839-46891889	NHDF-neo	bronchial:	n/a
16	chr21:46914628-46914678	HCM	heart:	n/a
17	chr21:46912386-46912436	NB4	blood:	n/a
18	chr21:46876305-46876355	AG04449	skin:	fetal
19	chr21:46875142-46875192	IMR90	lung:	fetal
20	chr21:46910559-46910609	PFSK-1	brain:	n/a
21	chr21:46912386-46912436	AG10803	skin:	n/a
22	chr21:46912423-46912473	HMEC	breast:	n/a
23	chr21:46876904-46876954	ProgFib	skin:	n/a
24	chr21:46895659-46895709	SK-N-SH	brain:	n/a
25	chr21:46889296-46889346	HCM	heart:	n/a
26	chr21:46876658-46876708	SK-N-SH	brain:	n/a
27	chr21:46876305-46876355	NHBE	bronchial:	n/a
28	chr21:46890849-46890899	HPAEpiC	pulmonary alveolar:	n/a
29	chr21:46917541-46917591	HIPEpiC	eye:	n/a
30	chr21:46909229-46909279	U87	brain:	n/a
31	chr21:46893155-46893205	HCM	heart:	n/a
32	chr21:46912423-46912473	Jurkat	blood:	n/a
33	chr21:46890849-46890899	AG04450	lung:	fetal
34	chr21:46895422-46895472	PFSK-1	brain:	n/a
35	chr21:46914628-46914678	ECC-1	luminal epithelium:	n/a
36	chr21:46902264-46902314	Jurkat	blood:	n/a
37	chr21:46890849-46890899	A549	lung:	n/a
38	chr21:46876658-46876708	AG04450	lung:	fetal
39	chr21:46898137-46898187	RPTEC	kidney:	n/a
40	chr21:46902264-46902314	NT2-D1	testis:	n/a
41	chr21:46912423-46912473	HRCEpiC	kidney:	n/a
42	chr21:46875149-46875199	AG09309	skin:	n/a
43	chr21:46895659-46895709	BJ	skin:	n/a
44	chr21:46876731-46876781	RPTEC	kidney:	n/a
45	chr21:46876731-46876781	ProgFib	skin:	n/a
46	chr21:46889296-46889346	HPAEpiC	pulmonary alveolar:	n/a
47	chr21:46917541-46917591	HCPEpiC	choroid plexus:	n/a
48	chr21:46912386-46912436	HCPEpiC	choroid plexus:	n/a
49	chr21:46875142-46875192	AoSMC	blood vessel:	n/a
50	chr21:46901728-46901778	BE2_C	brain:	n/a

(count:161 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr21:46824624..46826658-chr21:46918851..46921340,2	MCF-7	breast:
2	chr21:46493581..46496057-chr21:46918344..46920040,2	K562	blood:
3	chr21:46822711..46825161-chr21:46884911..46887223,2	MCF-7	breast:
4	chr21:46897754..46898338-chr21:47016482..47017033,2	MCF-7	breast:
5	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:
6	chr21:46915108..46917774-chr21:46920687..46922720,5	K562	blood:
7	chr21:46886366..46889897-chr21:46896542..46899002,4	K562	blood:
8	chr21:46871841..46874571-chr21:47238507..47240724,2	MCF-7	breast:
9	chr21:46863098..46865222-chr21:46896487..46898859,2	K562	blood:
10	chr21:46889693..46891470-chr21:46896677..46898959,2	MCF-7	breast:
11	chr21:46878521..46881227-chr21:46884366..46886401,3	MCF-7	breast:
12	chr21:46710867..46713346-chr21:46902258..46904212,2	K562	blood:
13	chr21:46878562..46881636-chr21:46881861..46885635,3	K562	blood:
14	chr21:46897692..46900108-chr21:46960321..46963178,3	K562	blood:
15	chr21:46893143..46895439-chr21:46901691..46903324,2	K562	blood:
16	chr21:46889471..46891725-chr21:46901347..46903971,2	MCF-7	breast:
17	chr21:46830376..46832624-chr21:46896929..46899496,3	K562	blood:
18	chr21:46871175..46873535-chr21:46882895..46884844,2	K562	blood:
19	chr21:46873561..46875599-chr21:46879760..46883219,3	MCF-7	breast:
20	chr21:46886399..46888507-chr21:46891960..46893848,2	MCF-7	breast:
21	chr21:46823833..46826041-chr21:46891537..46893617,2	MCF-7	breast:
22	chr21:46881532..46885170-chr21:46887591..46890256,3	K562	blood:
23	chr21:46916015..46920029-chr21:46924455..46926191,3	MCF-7	breast:
24	chr21:46893878..46896207-chr21:46896670..46900293,4	K562	blood:
25	chr21:46828752..46830297-chr21:46888341..46891063,2	K562	blood:
26	chr21:46867738..46869339-chr21:46934384..46936608,2	K562	blood:
27	chr21:46893878..46896207-chr21:46896670..46900293,4	K562	blood:
28	chr21:46868230..46870236-chr21:46961820..46963825,2	K562	blood:
29	chr21:46806783..46807357-chr21:46900948..46901827,2	MCF-7	breast:
30	chr21:46595747..46597935-chr21:46877376..46878975,2	K562	blood:
31	chr21:46869758..46871807-chr21:46892462..46894183,2	MCF-7	breast:
32	chr21:46876629..46878808-chr21:46954301..46956325,2	MCF-7	breast:
33	chr21:46885010..46886726-chr21:46889765..46891598,2	MCF-7	breast:
34	chr21:46881532..46885170-chr21:46887591..46890256,3	K562	blood:
35	chr21:46896740..46898482-chr21:46902488..46904592,2	MCF-7	breast:
36	chr21:46708041..46709626-chr21:46889364..46891279,2	MCF-7	breast:
37	chr21:46917696..46921111-chr21:46959968..46963190,4	K562	blood:
38	chr21:46797889..46799950-chr21:46887685..46889301,2	MCF-7	breast:
39	chr19:2149910..2152771-chr21:46896335..46898616,2	MCF-7	breast:
40	chr21:46900749..46902915-chr21:46902932..46904435,2	MCF-7	breast:
41	chr21:46902941..46903779-chr7:27134949..27135843,2	NB4	blood:
42	chr21:46890071..46892712-chr21:46952032..46954563,2	MCF-7	breast:
43	chr21:46851814..46853475-chr21:46908121..46909690,2	K562	blood:
44	chr21:46893143..46895439-chr21:46901691..46903324,2	K562	blood:
45	chr21:46494888..46496545-chr21:46914062..46916067,2	K562	blood:
46	chr21:46861400..46863890-chr21:46868344..46871053,2	MCF-7	breast:
47	chr21:46881386..46884375-chr21:46884703..46886434,2	K562	blood:
48	chr21:46736409..46739227-chr21:46915942..46918098,2	K562	blood:
49	chr21:46907126..46909663-chr21:46932910..46935713,2	MCF-7	breast:
50	chr21:46743593..46745203-chr21:46872464..46875205,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC19A1-4	chr21:46904119-46904155	NONHSAT082962
2	lnc-PCBP3-5	chr21:46903999-46904118	NONHSAT082963
3	lnc-PCBP3-5	chr21:46904181-46904660	NONHSAT082963
4	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082965
5	lnc-SLC19A1-4	chr21:46904119-46904660	NONHSAT082965
6	lnc-PCBP3-6	chr21:46897506-46897818	expReg_chr21_1994_+
7	lnc-PCBP3-5	chr21:46903719-46903843	NONHSAT082963
8	lnc-SLC19A1-4	chr21:46903719-46904008	NONHSAT082962
9	lnc-PCBP3-5	chr21:46903999-46904660	NONHSAT082964
10	lnc-PCBP3-5	chr21:46903719-46903907	NONHSAT082964
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
ENSG00000233429	chromatin interactions
ENSG00000215447	chromatin interactions
ENSG00000182871	chromatin interactions
ENSG00000173638	chromatin interactions
ENSG00000186866	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000065000	chromatin interactions
ENSG00000223768	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000224574	chromatin interactions
ENSG00000197381	chromatin interactions
ENSG00000228355	chromatin interactions

Extended variants
information (count: 3472 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:3472 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4819115	chr21:46868829-46868830	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs558097670	chr21:46868845-46868846	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs61524180	chr21:46868850-46868851	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147289518	chr21:46868860-46868861	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs183987467	chr21:46868875-46868876	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs562366894	chr21:46868901-46868902	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528884778	chr21:46868919-46868920	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs186017295	chr21:46868987-46868988	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs558913944	chr21:46868997-46868998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs532895707	chr21:46869042-46869043	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs551037259	chr21:46869043-46869044	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs569771146	chr21:46869047-46869048	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs530695263	chr21:46869052-46869053	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549012614	chr21:46869117-46869118	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs190921439	chr21:46869137-46869138	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs534909204	chr21:46869156-46869157	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs537485883	chr21:46869157-46869158	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs554244482	chr21:46869175-46869176	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs149420574	chr21:46869177-46869178	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs539961419	chr21:46869178-46869179	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558198644	chr21:46869202-46869203	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576572257	chr21:46869209-46869210	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs549779495	chr21:46869217-46869218	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs367621183	chr21:46869250-46869251	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs183016037	chr21:46869255-46869256	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs144835615	chr21:46869263-46869264	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs8134314	chr21:46869264-46869265	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs148624882	chr21:46869314-46869315	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs544790052	chr21:46869340-46869341	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs548828397	chr21:46869341-46869342	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs568668528	chr21:46869363-46869364	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563353433	chr21:46869374-46869375	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs530519822	chr21:46869407-46869408	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs549202789	chr21:46869425-46869426	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs116331088	chr21:46869432-46869433	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs143144107	chr21:46869433-46869434	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs536198339	chr21:46869459-46869460	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs368019557	chr21:46869461-46869462	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs80265736	chr21:46869463-46869464	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs186861971	chr21:46869478-46869479	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs146705598	chr21:46869479-46869480	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs551587864	chr21:46869510-46869511	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs190075135	chr21:46869517-46869518	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs569519593	chr21:46869536-46869537	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs537139505	chr21:46869563-46869564	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs566171837	chr21:46869576-46869577	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs183056257	chr21:46869638-46869639	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs573873534	chr21:46869649-46869650	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs8134270	chr21:46869655-46869656	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs553215111	chr21:46869665-46869666	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
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
Acute myeloid leukemia	19651600	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:2061 , 50 per page) page: 1 2 3 4 5 6 7 ... 42

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46855000-46873800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr21:46859400-46873400	Weak transcription	Gastric	stomach
3	chr21:46859800-46872200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr21:46859800-46874200	Weak transcription	Ovary	ovary
5	chr21:46859800-46880000	Weak transcription	HUVEC	blood vessel
6	chr21:46860000-46888200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr21:46862000-46887600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr21:46862200-46870600	Weak transcription	Right Ventricle	heart
9	chr21:46864200-46870200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr21:46865800-46873200	Weak transcription	Adipose Nuclei	Adipose
11	chr21:46866600-46872200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr21:46866600-46880000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:46866800-46871200	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr21:46867000-46872400	Weak transcription	A549	lung
15	chr21:46867000-46875200	Weak transcription	Aorta	Aorta
16	chr21:46867200-46869000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr21:46867400-46870800	Enhancers	HMEC	breast
18	chr21:46867600-46869000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:46867600-46869800	Flanking Active TSS	Liver	Liver
20	chr21:46867600-46870000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr21:46867600-46870800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:46867600-46871000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr21:46867800-46869000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr21:46868000-46870800	Enhancers	Esophagus	oesophagus
25	chr21:46868000-46871400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:46868000-46872000	Enhancers	Fetal Muscle Leg	muscle
27	chr21:46868200-46869000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr21:46868400-46869400	Enhancers	Placenta	Placenta
29	chr21:46868400-46872000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr21:46868400-46872200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr21:46868400-46872200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr21:46868400-46872200	Weak transcription	Fetal Kidney	kidney
33	chr21:46868400-46872200	Weak transcription	K562	blood
34	chr21:46868400-46874000	Weak transcription	Stomach Smooth Muscle	stomach
35	chr21:46868600-46869000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr21:46868600-46869400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr21:46868600-46869800	Flanking Active TSS	HepG2	liver
38	chr21:46868600-46871000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:46868600-46871000	Enhancers	Fetal Muscle Trunk	muscle
40	chr21:46868600-46871800	Weak transcription	Pancreas	Pancrea
41	chr21:46868600-46872200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr21:46868600-46872200	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr21:46868600-46872200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr21:46868600-46872200	Weak transcription	Fetal Heart	heart
45	chr21:46868600-46872200	Weak transcription	HSMM	muscle
46	chr21:46868600-46872400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr21:46868600-46873400	Weak transcription	Lung	lung
48	chr21:46868600-46874200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr21:46868600-46875400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr21:46868600-46881600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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