Variant report

Variant	esv1851709
Chromosome Location	chr21:45705770-45720575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1159)
CpG islands
(count:1647)
Chromatin interactive
region (count:68)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1159 , 50 per page) page: 1 2 3 4 5 6 7 ... 24

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45717672-45717861	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:45717579-45717833	K562	blood:	n/a	n/a
4	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
5	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
6	ATF2	chr21:45717501-45717906	GM12878	blood:	n/a	n/a
7	ATF3	chr21:45717606-45717835	K562	blood:	n/a	n/a
8	BACH1	chr21:45705844-45705867	H1-hESC	embryonic stem cell:	n/a	n/a
9	BACH1	chr21:45717562-45717677	K562	blood:	n/a	n/a
10	BACH1	chr21:45719536-45719733	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr21:45719065-45719257	K562	blood:	n/a	n/a
12	BATF	chr21:45716137-45716352	GM12878	blood:	n/a	n/a
13	BCL3	chr21:45718241-45718638	GM12878	blood:	n/a	n/a
14	BCL3	chr21:45718122-45718645	GM12878	blood:	n/a	n/a
15	BCLAF1	chr21:45717454-45717924	GM12878	blood:	n/a	chr21:45717492-45717501 chr21:45717488-45717501
16	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
17	BHLHE40	chr21:45719045-45719870	K562	blood:	n/a	chr21:45719589-45719605
18	BHLHE40	chr21:45716162-45716350	GM12878	blood:	n/a	n/a
19	BHLHE40	chr21:45719039-45719737	HepG2	liver:	n/a	chr21:45719589-45719605
20	BHLHE40	chr21:45717592-45717886	HepG2	liver:	n/a	n/a
21	BHLHE40	chr21:45718327-45718490	GM12878	blood:	n/a	n/a
22	BHLHE40	chr21:45718957-45720073	GM12878	blood:	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	BRCA1	chr21:45715147-45715458	Hela-S3	cervix:	n/a	n/a
26	BRCA1	chr21:45717452-45717741	HepG2	liver:	n/a	n/a
27	BRCA1	chr21:45717557-45717777	H1-hESC	embryonic stem cell:	n/a	n/a
28	BRCA1	chr21:45714430-45714756	Hela-S3	cervix:	n/a	n/a
29	BRCA1	chr21:45719712-45719741	Hela-S3	cervix:	n/a	n/a
30	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
31	CCNT2	chr21:45712225-45712243	K562	blood:	n/a	n/a
32	CEBPB	chr21:45717808-45718021	HepG2	liver:	n/a	n/a
33	CEBPB	chr21:45719486-45719625	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr21:45717594-45718171	K562	blood:	n/a	n/a
35	CEBPB	chr21:45717623-45718256	H1-hESC	embryonic stem cell:	n/a	n/a
36	CEBPB	chr21:45718935-45719872	GM12878	blood:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
37	CEBPB	chr21:45717675-45718158	K562	blood:	n/a	n/a
38	CEBPB	chr21:45717563-45718484	Hela-S3	cervix:	n/a	n/a
39	CEBPB	chr21:45715044-45715575	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr21:45717656-45718612	GM12878	blood:	n/a	n/a
41	CEBPB	chr21:45717634-45718162	IMR90	lung:	n/a	n/a
42	CEBPB	chr21:45717899-45718041	HepG2	liver:	n/a	n/a
43	CEBPB	chr21:45717808-45718022	A549	lung:	n/a	n/a
44	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
45	CEBPD	chr21:45719658-45720142	HepG2	liver:	n/a	n/a
46	CEBPD	chr21:45720206-45720602	HepG2	liver:	n/a	n/a
47	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
48	CHD1	chr21:45720427-45720453	H1-hESC	embryonic stem cell:	n/a	n/a
49	CHD1	chr21:45717444-45717937	IMR90	lung:	n/a	n/a
50	CHD1	chr21:45719340-45720969	IMR90	lung:	n/a	n/a

(count:1647 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45705740-45705790	HCF	heart:	n/a
2	chr21:45713719-45713769	U87	brain:	n/a
3	chr21:45709604-45709654	AG04450	lung:	fetal
4	chr21:45712938-45712988	HepG2	liver:	n/a
5	chr21:45719797-45719847	BE2_C	brain:	n/a
6	chr21:45705740-45705790	HEEpiC	esophagus:	n/a
7	chr21:45717733-45717783	HUVEC	blood vessel:	n/a
8	chr21:45717055-45717105	BJ	skin:	n/a
9	chr21:45707344-45707394	PrEC	prostate:	n/a
10	chr21:45710296-45710346	CMK	blood:	n/a
11	chr21:45719797-45719847	HCT-116	colon:	n/a
12	chr21:45719797-45719847	Jurkat	blood:	n/a
13	chr21:45713719-45713769	HAEpiC	amniotic membrane:	n/a
14	chr21:45713719-45713769	GM19239	blood:	n/a
15	chr21:45712938-45712988	U87	brain:	n/a
16	chr21:45713607-45713657	AG09319	gingival:	n/a
17	chr21:45719797-45719847	NH-A	brain:	n/a
18	chr21:45719797-45719847	SK-N-SH	brain:	n/a
19	chr21:45710206-45710256	ProgFib	skin:	n/a
20	chr21:45705994-45706044	K562	blood:	n/a
21	chr21:45712938-45712988	LNCaP	prostate:	n/a
22	chr21:45719797-45719847	A549	lung:	n/a
23	chr21:45713719-45713769	SK-N-SH	brain:	n/a
24	chr21:45710296-45710346	Jurkat	blood:	n/a
25	chr21:45717733-45717783	IMR90	lung:	fetal
26	chr21:45717733-45717783	GM19239	blood:	n/a
27	chr21:45719832-45719882	HCT-116	colon:	n/a
28	chr21:45719804-45719854	SK-N-SH	brain:	n/a
29	chr21:45717733-45717783	MCF-7	breast:	n/a
30	chr21:45706043-45706093	H1-hESC	embryonic stem cell:	embryo
31	chr21:45705740-45705790	NH-A	brain:	n/a
32	chr21:45719832-45719882	Hepatocyte	liver:	n/a
33	chr21:45705740-45705790	HUVEC	blood vessel:	n/a
34	chr21:45709604-45709654	SK-N-MC	brain:	n/a
35	chr21:45713064-45713114	ovcar-3	ovarian:	n/a
36	chr21:45705742-45705792	CMK	blood:	n/a
37	chr21:45705740-45705790	HL-60	blood:	n/a
38	chr21:45710206-45710256	HRE	kidney:	n/a
39	chr21:45705740-45705790	AG09319	gingival:	n/a
40	chr21:45705740-45705790	GM12878	blood:	n/a
41	chr21:45709604-45709654	PANC-1	pancreas:	n/a
42	chr21:45719818-45719868	RPTEC	kidney:	n/a
43	chr21:45719804-45719854	IMR90	lung:	fetal
44	chr21:45713704-45713754	PANC-1	pancreas:	n/a
45	chr21:45709676-45709726	HUVEC	blood vessel:	n/a
46	chr21:45709676-45709726	HepG2	liver:	n/a
47	chr21:45710296-45710346	HL-60	blood:	n/a
48	chr21:45710206-45710256	T-47D	breast:	n/a
49	chr21:45713064-45713114	AG04449	skin:	fetal
50	chr21:45706043-45706093	T-47D	breast:	n/a

(count:68 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
2	chr17:80063984..80064486-chr21:45719909..45720612,2	MCF-7	breast:
3	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
4	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
5	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
6	chr21:45698387..45700699-chr21:45707290..45709157,2	MCF-7	breast:
7	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
8	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
9	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
10	chr21:45625185..45629583-chr21:45714810..45717707,4	MCF-7	breast:
11	chr21:45667331..45671337-chr21:45714492..45717750,6	MCF-7	breast:
12	chr21:45573193..45575716-chr21:45715248..45717300,2	K562	blood:
13	chr11:833005..833656-chr21:45719773..45720543,2	Hela-S3	cervix:
14	chr21:45719368..45721922-chr21:45924862..45927430,2	MCF-7	breast:
15	chr21:45705948..45708747-chr21:45714407..45716597,2	MCF-7	breast:
16	chr21:45675362..45677457-chr21:45707030..45709484,2	K562	blood:
17	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
18	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:
19	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
20	chr21:45566403..45567701-chr21:45716183..45718325,15	MCF-7	breast:
21	chr21:45663550..45664645-chr21:45717261..45718177,3	MCF-7	breast:
22	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
23	chr21:45707337..45709850-chr21:45719040..45720575,2	K562	blood:
24	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
25	chr21:45595760..45596300-chr21:45714724..45715293,2	MCF-7	breast:
26	chr20:62669928..62670791-chr21:45719751..45720327,2	Hela-S3	cervix:
27	chr21:45610065..45610976-chr21:45717590..45718626,4	MCF-7	breast:
28	chr2:95540074..95540574-chr21:45713850..45714470,2	Hela-S3	cervix:
29	chr21:45598378..45600609-chr21:45712200..45713820,2	MCF-7	breast:
30	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
31	chr21:45664753..45666308-chr21:45706084..45707885,2	MCF-7	breast:
32	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
33	chr21:45621144..45622830-chr21:45706293..45708596,2	MCF-7	breast:
34	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
35	chr21:45590104..45592825-chr21:45716681..45719133,2	K562	blood:
36	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
37	chr11:93474471..93475047-chr21:45719657..45720548,2	Hela-S3	cervix:
38	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
39	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:
40	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
41	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
42	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
43	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
44	chr21:45529641..45531506-chr21:45718091..45719694,2	MCF-7	breast:
45	chr21:45659201..45661814-chr21:45711763..45713332,2	MCF-7	breast:
46	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
47	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
48	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
49	chr21:45659483..45665024-chr21:45713867..45717970,6	MCF-7	breast:
50	chr20:49341209..49343163-chr21:45716072..45718557,2	MCF-7	breast:

(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
ENSG00000196678	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000182919	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000196700	chromatin interactions

Extended variants
information (count: 953 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:953 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	rs578064722	chr21:45706081-45706082	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs539135744	chr21:45706112-45706113	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557145353	chr21:45706117-45706118	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs576198449	chr21:45706162-45706163	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs376315701	chr21:45706164-45706165	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs561898981	chr21:45706169-45706170	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs193191445	chr21:45706187-45706188	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs55791826	chr21:45706203-45706204	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs371629103	chr21:45706207-45706208	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs576672065	chr21:45706223-45706224	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374563371	chr21:45706238-45706239	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs34406174	chr21:45706254-45706255	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs139163713	chr21:45706305-45706306	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs77492303	chr21:45706317-45706318	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs551476554	chr21:45706318-45706319	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563203914	chr21:45706335-45706336	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs56146315	chr21:45706340-45706341	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs73907152	chr21:45706349-45706350	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567846715	chr21:45706398-45706399	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs535383465	chr21:45706405-45706406	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs369378190	chr21:45706412-45706413	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs373609364	chr21:45706419-45706420	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs199590125	chr21:45706422-45706423	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs202011489	chr21:45706425-45706426	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs372109674	chr21:45706429-45706430	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs376741040	chr21:45706445-45706446	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144396624	chr21:45706463-45706464	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs200955183	chr21:45706476-45706477	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs201591958	chr21:45706487-45706488	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs372604287	chr21:45706488-45706489	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs143821018	chr21:45706529-45706530	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs146810389	chr21:45706533-45706534	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs179363887	chr21:45706537-45706538	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs179363880	chr21:45706539-45706540	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs179363881	chr21:45706545-45706546	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs267606642	chr21:45706546-45706547	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	3 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:743 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45702400-45705800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr21:45702800-45714000	Weak transcription	GM12878-XiMat	blood
3	chr21:45703600-45706200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr21:45703600-45707000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr21:45704400-45711600	Weak transcription	Primary B cells from cord blood	blood
6	chr21:45705200-45705800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr21:45705200-45705800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
8	chr21:45705200-45705800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr21:45705200-45705800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr21:45705200-45705800	Bivalent Enhancer	Placenta	Placenta
11	chr21:45705200-45706000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:45705200-45706000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
13	chr21:45705200-45706000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr21:45705200-45706000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr21:45705200-45706000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr21:45705200-45706200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45705200-45706200	Bivalent Enhancer	Fetal Brain Male	brain
18	chr21:45705200-45706400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr21:45705400-45705800	Active TSS	H9 Cell Line	embryonic stem cell
20	chr21:45705400-45705800	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr21:45705400-45705800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr21:45705400-45705800	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
23	chr21:45705400-45705800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr21:45705400-45705800	Bivalent Enhancer	Adipose Nuclei	Adipose
25	chr21:45705400-45705800	Active TSS	Brain Angular Gyrus	brain
26	chr21:45705400-45705800	Active TSS	Brain Anterior Caudate	brain
27	chr21:45705400-45705800	Flanking Active TSS	Brain Hippocampus Middle	brain
28	chr21:45705400-45705800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
29	chr21:45705400-45705800	Bivalent Enhancer	Fetal Lung	lung
30	chr21:45705400-45705800	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr21:45705400-45705800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
32	chr21:45705400-45705800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr21:45705400-45705800	Enhancers	HUVEC	blood vessel
34	chr21:45705400-45705800	Flanking Active TSS	Osteobl	bone
35	chr21:45705400-45706000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
36	chr21:45705400-45706000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr21:45705400-45706000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr21:45705400-45706000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr21:45705400-45706000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr21:45705400-45706000	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
41	chr21:45705400-45706000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
42	chr21:45705400-45706000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr21:45705400-45706000	Bivalent/Poised TSS	Fetal Brain Female	brain
44	chr21:45705400-45706000	Enhancers	Lung	lung
45	chr21:45705400-45706000	Enhancers	Pancreas	Pancrea
46	chr21:45705400-45706000	Flanking Active TSS	Right Ventricle	heart
47	chr21:45705600-45705800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr21:45705600-45705800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr21:45705600-45705800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr21:45705600-45705800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

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