Variant report

Variant	esv1851447
Chromosome Location	chr21:45705239-45723628
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1621)
CpG islands
(count:2198)
Chromatin interactive
region (count:78)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1621 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45723419-45723660	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45717672-45717861	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:45717579-45717833	K562	blood:	n/a	n/a
4	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
5	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
6	ATF2	chr21:45717501-45717906	GM12878	blood:	n/a	n/a
7	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
8	ATF3	chr21:45717606-45717835	K562	blood:	n/a	n/a
9	BACH1	chr21:45705844-45705867	H1-hESC	embryonic stem cell:	n/a	n/a
10	BACH1	chr21:45719065-45719257	K562	blood:	n/a	n/a
11	BACH1	chr21:45717562-45717677	K562	blood:	n/a	n/a
12	BACH1	chr21:45719536-45719733	H1-hESC	embryonic stem cell:	n/a	n/a
13	BATF	chr21:45716137-45716352	GM12878	blood:	n/a	n/a
14	BCL3	chr21:45718241-45718638	GM12878	blood:	n/a	n/a
15	BCL3	chr21:45718122-45718645	GM12878	blood:	n/a	n/a
16	BCLAF1	chr21:45717454-45717924	GM12878	blood:	n/a	chr21:45717492-45717501 chr21:45717488-45717501
17	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
18	BHLHE40	chr21:45718957-45720073	GM12878	blood:	n/a	chr21:45719589-45719605
19	BHLHE40	chr21:45716162-45716350	GM12878	blood:	n/a	n/a
20	BHLHE40	chr21:45717592-45717886	HepG2	liver:	n/a	n/a
21	BHLHE40	chr21:45718327-45718490	GM12878	blood:	n/a	n/a
22	BHLHE40	chr21:45719039-45719737	HepG2	liver:	n/a	chr21:45719589-45719605
23	BHLHE40	chr21:45717554-45718062	GM12878	blood:	n/a	n/a
24	BHLHE40	chr21:45717582-45717889	K562	blood:	n/a	n/a
25	BHLHE40	chr21:45722603-45722927	HepG2	liver:	n/a	n/a
26	BHLHE40	chr21:45719045-45719870	K562	blood:	n/a	chr21:45719589-45719605
27	BHLHE40	chr21:45721621-45721919	GM12878	blood:	n/a	chr21:45721742-45721751 chr21:45721741-45721750 chr21:45721741-45721750
28	BRCA1	chr21:45714430-45714756	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr21:45717452-45717741	HepG2	liver:	n/a	n/a
30	BRCA1	chr21:45717557-45717777	H1-hESC	embryonic stem cell:	n/a	n/a
31	BRCA1	chr21:45715147-45715458	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr21:45722612-45722693	HepG2	liver:	n/a	n/a
33	BRCA1	chr21:45719712-45719741	Hela-S3	cervix:	n/a	n/a
34	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
35	CCNT2	chr21:45712225-45712243	K562	blood:	n/a	n/a
36	CEBPB	chr21:45717675-45718158	K562	blood:	n/a	n/a
37	CEBPB	chr21:45722601-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
38	CEBPB	chr21:45722652-45722905	HepG2	liver:	n/a	chr21:45722790-45722801
39	CEBPB	chr21:45722683-45722851	HepG2	liver:	n/a	chr21:45722790-45722801
40	CEBPB	chr21:45717808-45718021	HepG2	liver:	n/a	n/a
41	CEBPB	chr21:45722646-45722910	Hela-S3	cervix:	n/a	chr21:45722790-45722801
42	CEBPB	chr21:45717899-45718041	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:45722647-45722851	K562	blood:	n/a	chr21:45722790-45722801
44	CEBPB	chr21:45717808-45718022	A549	lung:	n/a	n/a
45	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
46	CEBPB	chr21:45717563-45718484	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr21:45717634-45718162	IMR90	lung:	n/a	n/a
48	CEBPB	chr21:45722596-45722970	HepG2	liver:	n/a	chr21:45722790-45722801
49	CEBPB	chr21:45722498-45722869	MCF-7	breast:	n/a	chr21:45722790-45722801
50	CEBPB	chr21:45717623-45718256	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2198 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45709595-45709645	PFSK-1	brain:	n/a
2	chr21:45705742-45705792	SK-N-MC	brain:	n/a
3	chr21:45709595-45709645	PFSK-1	brain:	n/a
4	chr21:45705742-45705792	SK-N-MC	brain:	n/a
5	chr21:45713064-45713114	HEEpiC	esophagus:	n/a
6	chr21:45713704-45713754	HPAEpiC	pulmonary alveolar:	n/a
7	chr21:45713064-45713114	HAEpiC	amniotic membrane:	n/a
8	chr21:45717055-45717105	MCF10A-Er-Src	breast:	n/a
9	chr21:45705699-45705749	Hepatocyte	liver:	n/a
10	chr21:45722068-45722118	GM12878	blood:	n/a
11	chr21:45707344-45707394	HCF	heart:	n/a
12	chr21:45719804-45719854	U87	brain:	n/a
13	chr21:45705618-45705668	HCT-116	colon:	n/a
14	chr21:45705429-45705479	NHBE	bronchial:	n/a
15	chr21:45705742-45705792	ECC-1	luminal epithelium:	n/a
16	chr21:45719797-45719847	NHBE	bronchial:	n/a
17	chr21:45705740-45705790	AG10803	skin:	n/a
18	chr21:45713064-45713114	AG04449	skin:	fetal
19	chr21:45719818-45719868	GM12878	blood:	n/a
20	chr21:45713607-45713657	HRCEpiC	kidney:	n/a
21	chr21:45709676-45709726	BE2_C	brain:	n/a
22	chr21:45719404-45719454	AG10803	skin:	n/a
23	chr21:45717055-45717105	HepG2	liver:	n/a
24	chr21:45706043-45706093	ProgFib	skin:	n/a
25	chr21:45705429-45705479	CMK	blood:	n/a
26	chr21:45705721-45705771	Hepatocyte	liver:	n/a
27	chr21:45713510-45713560	H1-hESC	embryonic stem cell:	embryo
28	chr21:45719804-45719854	AG04449	skin:	fetal
29	chr21:45705686-45705736	PrEC	prostate:	n/a
30	chr21:45713719-45713769	SAEC	small airway:	n/a
31	chr21:45705686-45705736	GM19239	blood:	n/a
32	chr21:45713607-45713657	HCM	heart:	n/a
33	chr21:45713064-45713114	HL-60	blood:	n/a
34	chr21:45710225-45710275	Caco-2	colon:	n/a
35	chr21:45713064-45713114	HCT-116	colon:	n/a
36	chr21:45705267-45705317	NHDF-neo	bronchial:	n/a
37	chr21:45713719-45713769	SK-N-SH_RA	brain:	n/a
38	chr21:45713064-45713114	NH-A	brain:	n/a
39	chr21:45719832-45719882	Hepatocyte	liver:	n/a
40	chr21:45709676-45709726	Hela-S3	cervix:	n/a
41	chr21:45706101-45706151	ProgFib	skin:	n/a
42	chr21:45719797-45719847	K562	blood:	n/a
43	chr21:45713719-45713769	SKMC	muscle:	n/a
44	chr21:45706101-45706151	HRE	kidney:	n/a
45	chr21:45722068-45722118	NH-A	brain:	n/a
46	chr21:45717055-45717105	HEK293	kidney:	embryo
47	chr21:45707344-45707394	RPTEC	kidney:	n/a
48	chr21:45705699-45705749	AoSMC	blood vessel:	n/a
49	chr21:45710225-45710275	NH-A	brain:	n/a
50	chr21:45712938-45712988	RPTEC	kidney:	n/a

(count:78 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
2	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:
3	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
4	chr21:45590104..45592825-chr21:45716681..45719133,2	K562	blood:
5	chr21:45659201..45661814-chr21:45711763..45713332,2	MCF-7	breast:
6	chr21:45706192..45708380-chr9:137402919..137404419,2	K562	blood:
7	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
8	chr21:45675362..45678242-chr21:45707030..45708929,2	K562	blood:
9	chr21:45533330..45534380-chr21:45717133..45718236,3	K562	blood:
10	chr21:45595760..45596300-chr21:45714724..45715293,2	MCF-7	breast:
11	chr21:45664753..45666308-chr21:45706084..45707885,2	MCF-7	breast:
12	chr21:45703415..45705838-chr21:45706496..45708664,2	K562	blood:
13	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
14	chr21:45675362..45677457-chr21:45707030..45709484,2	K562	blood:
15	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
16	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
17	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
18	chr21:45720740..45724060-chr21:45730996..45734496,4	MCF-7	breast:
19	chr21:45722123..45722801-chr21:45929220..45929813,2	MCF-7	breast:
20	chr21:45573193..45575716-chr21:45715248..45717300,2	K562	blood:
21	chr21:45431787..45433957-chr21:45722035..45724277,2	MCF-7	breast:
22	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
23	chr21:45692048..45693952-chr21:45722108..45724674,2	K562	blood:
24	chr21:45659483..45665024-chr21:45713867..45717970,6	MCF-7	breast:
25	chr11:833005..833656-chr21:45719773..45720543,2	Hela-S3	cervix:
26	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
27	chr21:45625185..45629583-chr21:45714810..45717707,4	MCF-7	breast:
28	chr21:45553772..45556030-chr21:45714036..45716706,2	MCF-7	breast:
29	chr21:45529641..45531506-chr21:45718091..45719694,2	MCF-7	breast:
30	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
31	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
32	chr21:45663550..45664645-chr21:45717261..45718177,3	MCF-7	breast:
33	chr17:80063984..80064486-chr21:45719909..45720612,2	MCF-7	breast:
34	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
35	chr20:49341209..49343163-chr21:45716072..45718557,2	MCF-7	breast:
36	chr21:45566744..45567741-chr21:45717194..45717765,3	K562	blood:
37	chr21:45621144..45622830-chr21:45706293..45708596,2	MCF-7	breast:
38	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:
39	chr21:45705948..45708747-chr21:45714407..45716597,2	MCF-7	breast:
40	chr21:45722493..45724362-chr21:45846453..45848482,2	K562	blood:
41	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
42	chr21:45698387..45700699-chr21:45707290..45709157,2	MCF-7	breast:
43	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
44	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
45	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
46	chr21:45646929..45649762-chr21:45721151..45723519,2	MCF-7	breast:
47	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
48	chr21:45557509..45558592-chr21:45716744..45718150,8	MCF-7	breast:
49	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
50	chr21:45568318..45571293-chr21:45707823..45709583,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AIRE-2	chr21:45718898-45719293	expReg_chr21_1765_+

No data

Variant related genes	Relation type
PFKL	TF binding region
AIRE	TF binding region
PFKL	CpG island
AIRE	CpG island
ENSG00000196700	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000196678	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000142182	chromatin interactions

Extended variants
information (count: 1120 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:1120 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3761390	chr21:45705239-45705240	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs3761391	chr21:45705240-45705241	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs541542768	chr21:45705262-45705263	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs559858056	chr21:45705289-45705290	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs527499465	chr21:45705291-45705292	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs374635703	chr21:45705319-45705320	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs370834484	chr21:45705325-45705326	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs564253769	chr21:45705345-45705346	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531681111	chr21:45705374-45705375	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs143382681	chr21:45705389-45705390	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs368752311	chr21:45705390-45705391	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs191500172	chr21:45705398-45705399	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs147141429	chr21:45705410-45705411	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs547103905	chr21:45705438-45705439	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs565471536	chr21:45705441-45705442	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572667922	chr21:45705457-45705458	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557974720	chr21:45705471-45705472	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs570139539	chr21:45705472-45705473	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs58274041	chr21:45705486-45705487	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs148219729	chr21:45705506-45705507	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs539080651	chr21:45705508-45705509	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs371261300	chr21:45705510-45705511	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs141226179	chr21:45705534-45705535	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs374842523	chr21:45705544-45705545	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs35110251	chr21:45705571-45705572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs578165772	chr21:45705572-45705573	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs545517470	chr21:45705621-45705622	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564348883	chr21:45705626-45705627	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs751032	chr21:45705660-45705661	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs543719999	chr21:45705662-45705663	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs561797366	chr21:45705663-45705664	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184978263	chr21:45705676-45705677	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547017183	chr21:45705734-45705735	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs545785436	chr21:45705740-45705741	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs558920105	chr21:45705750-45705751	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs532902179	chr21:45705759-45705760	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs9978641	chr21:45705770-45705771	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs570236021	chr21:45705802-45705803	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs150767556	chr21:45705813-45705814	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs121434258	chr21:45705890-45705891	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs179363875	chr21:45705932-45705933	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs179363876	chr21:45705933-45705934	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs179363877	chr21:45705936-45705937	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs179363886	chr21:45705951-45705952	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs371796437	chr21:45705952-45705953	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs179363878	chr21:45705972-45705973	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs179363879	chr21:45705975-45705976	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs3746964	chr21:45705988-45705989	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535317267	chr21:45706039-45706040	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs553452692	chr21:45706078-45706079	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

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
Hodgkin''s lymphoma	18641027	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
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD
small cell lung cancer	17426248	CNVD
Ependymoma	20639864	CNVD
Breast cancer	21364760	CNVD
Down syndrome	21154855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1154 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45702400-45705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr21:45702800-45714000	Weak transcription	GM12878-XiMat	blood
4	chr21:45703000-45705600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr21:45703600-45705400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
6	chr21:45703600-45705400	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:45703600-45705600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr21:45703600-45705600	Bivalent Enhancer	Fetal Stomach	stomach
9	chr21:45703600-45706200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr21:45703600-45707000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr21:45703800-45705400	Weak transcription	Lung	lung
12	chr21:45703800-45705600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr21:45704200-45705400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr21:45704400-45711600	Weak transcription	Primary B cells from cord blood	blood
15	chr21:45704600-45705400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:45705200-45705400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr21:45705200-45705400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
18	chr21:45705200-45705400	Enhancers	Brain Hippocampus Middle	brain
19	chr21:45705200-45705400	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr21:45705200-45705400	Enhancers	Right Ventricle	heart
21	chr21:45705200-45705400	Enhancers	HSMMtube	muscle
22	chr21:45705200-45705600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr21:45705200-45705600	Flanking Active TSS	Fetal Intestine Large	intestine
24	chr21:45705200-45705600	Enhancers	Placenta Amnion	Placenta Amnion
25	chr21:45705200-45705800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr21:45705200-45705800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr21:45705200-45705800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr21:45705200-45705800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr21:45705200-45705800	Bivalent Enhancer	Placenta	Placenta
30	chr21:45705200-45706000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr21:45705200-45706000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr21:45705200-45706000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr21:45705200-45706000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr21:45705200-45706000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:45705200-45706200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr21:45705200-45706200	Bivalent Enhancer	Fetal Brain Male	brain
37	chr21:45705200-45706400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr21:45705400-45705600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr21:45705400-45705600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr21:45705400-45705600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr21:45705400-45705600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
42	chr21:45705400-45705600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr21:45705400-45705600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr21:45705400-45705600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr21:45705400-45705600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
46	chr21:45705400-45705600	Enhancers	HSMM	muscle
47	chr21:45705400-45705600	Flanking Active TSS	HSMMtube	muscle
48	chr21:45705400-45705800	Active TSS	H9 Cell Line	embryonic stem cell
49	chr21:45705400-45705800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr21:45705400-45705800	Weak transcription	Primary hematopoietic stem cells	blood

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