Variant report

Variant	esv1847347
Chromosome Location	chr21:45709153-45720575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1148)
CpG islands
(count:1223)
Chromatin interactive
region (count:61)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1148 , 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	chr21:45717579-45717833	K562	blood:	n/a	n/a
2	ARID3A	chr21:45717672-45717861	HepG2	liver:	n/a	n/a
3	ARID3A	chr21:45720380-45720411	HepG2	liver:	n/a	n/a
4	ATF2	chr21:45718972-45719734	GM12878	blood:	n/a	n/a
5	ATF2	chr21:45717501-45717906	GM12878	blood:	n/a	n/a
6	ATF2	chr21:45719133-45719688	GM12878	blood:	n/a	n/a
7	ATF3	chr21:45717606-45717835	K562	blood:	n/a	n/a
8	BACH1	chr21:45719065-45719257	K562	blood:	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	BATF	chr21:45716137-45716352	GM12878	blood:	n/a	n/a
12	BCL3	chr21:45718122-45718645	GM12878	blood:	n/a	n/a
13	BCL3	chr21:45718241-45718638	GM12878	blood:	n/a	n/a
14	BCLAF1	chr21:45719008-45719813	GM12878	blood:	n/a	chr21:45719409-45719422
15	BCLAF1	chr21:45717454-45717924	GM12878	blood:	n/a	chr21:45717492-45717501 chr21:45717488-45717501
16	BHLHE40	chr21:45717582-45717889	K562	blood:	n/a	n/a
17	BHLHE40	chr21:45719039-45719737	HepG2	liver:	n/a	chr21:45719589-45719605
18	BHLHE40	chr21:45719045-45719870	K562	blood:	n/a	chr21:45719589-45719605
19	BHLHE40	chr21:45718957-45720073	GM12878	blood:	n/a	chr21:45719589-45719605
20	BHLHE40	chr21:45718327-45718490	GM12878	blood:	n/a	n/a
21	BHLHE40	chr21:45717592-45717886	HepG2	liver:	n/a	n/a
22	BHLHE40	chr21:45717554-45718062	GM12878	blood:	n/a	n/a
23	BHLHE40	chr21:45716162-45716350	GM12878	blood:	n/a	n/a
24	BRCA1	chr21:45715147-45715458	Hela-S3	cervix:	n/a	n/a
25	BRCA1	chr21:45717557-45717777	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr21:45719712-45719741	Hela-S3	cervix:	n/a	n/a
27	BRCA1	chr21:45714430-45714756	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr21:45717452-45717741	HepG2	liver:	n/a	n/a
29	CCNT2	chr21:45712225-45712243	K562	blood:	n/a	n/a
30	CCNT2	chr21:45719454-45720776	K562	blood:	n/a	n/a
31	CEBPB	chr21:45718935-45719872	GM12878	blood:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
32	CEBPB	chr21:45717634-45718162	IMR90	lung:	n/a	n/a
33	CEBPB	chr21:45719156-45719353	HepG2	liver:	n/a	chr21:45719255-45719266 chr21:45719253-45719264 chr21:45719253-45719266
34	CEBPB	chr21:45717594-45718171	K562	blood:	n/a	n/a
35	CEBPB	chr21:45717808-45718021	HepG2	liver:	n/a	n/a
36	CEBPB	chr21:45717899-45718041	HepG2	liver:	n/a	n/a
37	CEBPB	chr21:45717675-45718158	K562	blood:	n/a	n/a
38	CEBPB	chr21:45717623-45718256	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr21:45717656-45718612	GM12878	blood:	n/a	n/a
40	CEBPB	chr21:45717563-45718484	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr21:45719486-45719625	Hela-S3	cervix:	n/a	n/a
42	CEBPB	chr21:45717808-45718022	A549	lung:	n/a	n/a
43	CEBPB	chr21:45715044-45715575	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr21:45720206-45720602	HepG2	liver:	n/a	n/a
45	CEBPD	chr21:45719658-45720142	HepG2	liver:	n/a	n/a
46	CHD1	chr21:45719060-45720869	GM12878	blood:	n/a	chr21:45719200-45719207
47	CHD1	chr21:45717444-45717937	IMR90	lung:	n/a	n/a
48	CHD1	chr21:45719340-45720969	IMR90	lung:	n/a	n/a
49	CHD1	chr21:45720427-45720453	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr21:45719421-45719998	Hela-S3	cervix:	n/a	n/a

(count:1223 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45709604-45709654	AG09309	skin:	n/a
2	chr21:45709676-45709726	HPAEpiC	pulmonary alveolar:	n/a
3	chr21:45710225-45710275	Hepatocyte	liver:	n/a
4	chr21:45709604-45709654	AG09309	skin:	n/a
5	chr21:45709676-45709726	HPAEpiC	pulmonary alveolar:	n/a
6	chr21:45710225-45710275	Hepatocyte	liver:	n/a
7	chr21:45717055-45717105	SK-N-SH_RA	brain:	n/a
8	chr21:45710296-45710346	HNPCEpiC	eye:	n/a
9	chr21:45719687-45719737	AG09309	skin:	n/a
10	chr21:45713704-45713754	PANC-1	pancreas:	n/a
11	chr21:45719818-45719868	AG09319	gingival:	n/a
12	chr21:45713704-45713754	HRPEpiC	eye:	n/a
13	chr21:45713064-45713114	NHBE	bronchial:	n/a
14	chr21:45719797-45719847	SK-N-SH	brain:	n/a
15	chr21:45719687-45719737	AG04449	skin:	fetal
16	chr21:45719818-45719868	HIPEpiC	eye:	n/a
17	chr21:45709676-45709726	NH-A	brain:	n/a
18	chr21:45717733-45717783	Hepatocyte	liver:	n/a
19	chr21:45719404-45719454	HMEC	breast:	n/a
20	chr21:45713064-45713114	LNCaP	prostate:	n/a
21	chr21:45719818-45719868	U87	brain:	n/a
22	chr21:45713719-45713769	NH-A	brain:	n/a
23	chr21:45709595-45709645	HMEC	breast:	n/a
24	chr21:45719804-45719854	HAEpiC	amniotic membrane:	n/a
25	chr21:45713510-45713560	GM19239	blood:	n/a
26	chr21:45719404-45719454	MCF-7	breast:	n/a
27	chr21:45713704-45713754	BE2_C	brain:	n/a
28	chr21:45710296-45710346	AG04450	lung:	fetal
29	chr21:45709676-45709726	NB4	blood:	n/a
30	chr21:45710296-45710346	HRCEpiC	kidney:	n/a
31	chr21:45713510-45713560	HCM	heart:	n/a
32	chr21:45719832-45719882	NB4	blood:	n/a
33	chr21:45710296-45710346	CMK	blood:	n/a
34	chr21:45719797-45719847	HCPEpiC	choroid plexus:	n/a
35	chr21:45719404-45719454	AG04449	skin:	fetal
36	chr21:45712938-45712988	CMK	blood:	n/a
37	chr21:45713704-45713754	BJ	skin:	n/a
38	chr21:45710206-45710256	PANC-1	pancreas:	n/a
39	chr21:45717733-45717783	HUVEC	blood vessel:	n/a
40	chr21:45719687-45719737	PFSK-1	brain:	n/a
41	chr21:45710296-45710346	NHBE	bronchial:	n/a
42	chr21:45719404-45719454	Caco-2	colon:	n/a
43	chr21:45717055-45717105	BE2_C	brain:	n/a
44	chr21:45713607-45713657	SK-N-SH	brain:	n/a
45	chr21:45709595-45709645	BJ	skin:	n/a
46	chr21:45709595-45709645	HAEpiC	amniotic membrane:	n/a
47	chr21:45713607-45713657	HMEC	breast:	n/a
48	chr21:45719404-45719454	SAEC	small airway:	n/a
49	chr21:45709595-45709645	AG09319	gingival:	n/a
50	chr21:45713719-45713769	SK-N-SH	brain:	n/a

(count:61 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
2	chr21:45718752..45721154-chr21:46219831..46222611,2	K562	blood:
3	chr21:45595760..45596300-chr21:45714724..45715293,2	MCF-7	breast:
4	chr21:45610065..45610976-chr21:45717590..45718626,4	MCF-7	breast:
5	chr21:45667021..45669149-chr21:45714307..45715879,2	MCF-7	breast:
6	chr21:45556726..45571792-chr21:45714286..45731454,46	K562	blood:
7	chr21:45658347..45670658-chr21:45718073..45723358,28	MCF-7	breast:
8	chr21:45659483..45665024-chr21:45713867..45717970,6	MCF-7	breast:
9	chr21:45625593..45629065-chr21:45717787..45720760,5	MCF-7	breast:
10	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
11	chr21:45667662..45673123-chr21:45716367..45722484,9	MCF-7	breast:
12	chr20:49341209..49343163-chr21:45716072..45718557,2	MCF-7	breast:
13	chr21:45607258..45609812-chr21:45714744..45717743,2	MCF-7	breast:
14	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
15	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
16	chr21:45577541..45579971-chr21:45717621..45719920,3	K562	blood:
17	chr20:62669928..62670791-chr21:45719751..45720327,2	Hela-S3	cervix:
18	chr21:45598378..45600609-chr21:45712200..45713820,2	MCF-7	breast:
19	chr21:45710342..45712046-chr21:45714277..45715786,2	MCF-7	breast:
20	chr21:45663550..45664645-chr21:45717261..45718177,3	MCF-7	breast:
21	chr21:45557509..45558592-chr21:45716744..45718150,8	MCF-7	breast:
22	chr21:45705948..45708747-chr21:45714407..45716597,2	MCF-7	breast:
23	chr21:45557547..45558504-chr21:45717255..45718135,5	K562	blood:
24	chr21:45625185..45629583-chr21:45714810..45717707,4	MCF-7	breast:
25	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
26	chr11:833005..833656-chr21:45719773..45720543,2	Hela-S3	cervix:
27	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
28	chr21:45577622..45580238-chr21:45720220..45722935,2	MCF-7	breast:
29	chr21:45719852..45723806-chr21:45756512..45759776,5	MCF-7	breast:
30	chr17:80063984..80064486-chr21:45719909..45720612,2	MCF-7	breast:
31	chr21:45431322..45434131-chr21:45718820..45721746,2	K562	blood:
32	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
33	chr15:91475339..91476030-chr21:45719792..45720418,2	MCF-7	breast:
34	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:
35	chr21:45719757..45722045-chr21:45874863..45877372,2	MCF-7	breast:
36	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
37	chr21:45590104..45592825-chr21:45716681..45719133,2	K562	blood:
38	chr21:45553772..45556030-chr21:45714036..45716706,2	MCF-7	breast:
39	chr21:45566403..45567701-chr21:45716183..45718325,15	MCF-7	breast:
40	chr21:45533330..45534380-chr21:45717133..45718236,3	K562	blood:
41	chr21:45658941..45665769-chr21:45718013..45724632,19	MCF-7	breast:
42	chr21:45659201..45661814-chr21:45711763..45713332,2	MCF-7	breast:
43	chr21:45566744..45567696-chr21:45717266..45718589,8	MCF-7	breast:
44	chr21:45720013..45721648-chr21:45874354..45876678,2	MCF-7	breast:
45	chr1:121484897..121485723-chr21:45720036..45720955,2	Hela-S3	cervix:
46	chr2:95540074..95540574-chr21:45713850..45714470,2	Hela-S3	cervix:
47	chr21:45524250..45528671-chr21:45720289..45724952,5	MCF-7	breast:
48	chr21:45667331..45671337-chr21:45714492..45717750,6	MCF-7	breast:
49	chr21:45620341..45625358-chr21:45718389..45721509,5	MCF-7	breast:
50	chr21:45529641..45531506-chr21:45718091..45719694,2	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
ENSG00000182919	chromatin interactions
ENSG00000005189	chromatin interactions
ENSG00000196700	chromatin interactions
ENSG00000241945	chromatin interactions
ENSG00000160218	chromatin interactions
ENSG00000232698	chromatin interactions
ENSG00000232969	chromatin interactions
ENSG00000225331	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000184508	chromatin interactions
ENSG00000160226	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000235890	chromatin interactions
ENSG00000232010	chromatin interactions
ENSG00000160233	chromatin interactions
ENSG00000166012	chromatin interactions
ENSG00000160223	chromatin interactions
ENSG00000229356	chromatin interactions
ENSG00000177697	chromatin interactions
ENSG00000176155	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160221	chromatin interactions
ENSG00000196678	chromatin interactions

Extended variants
information (count: 721 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:721 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2075876	chr21:45709153-45709154	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	disease
2	rs11454989	chr21:45709161-45709162	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs397943720	chr21:45709164-45709165	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs541528737	chr21:45709167-45709168	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs560398982	chr21:45709168-45709169	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs62220374	chr21:45709171-45709172	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546102157	chr21:45709174-45709175	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs373621797	chr21:45709208-45709209	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs142441083	chr21:45709209-45709210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs73907156	chr21:45709238-45709239	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs549543017	chr21:45709242-45709243	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs79212750	chr21:45709289-45709290	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs377176169	chr21:45709330-45709331	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs2516560	chr21:45709339-45709340	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs547040515	chr21:45709358-45709359	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs559403652	chr21:45709380-45709381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs41277548	chr21:45709395-45709396	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs144821473	chr21:45709397-45709398	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs551934701	chr21:45709398-45709399	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs570281396	chr21:45709412-45709413	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs537745896	chr21:45709415-45709416	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs555838786	chr21:45709433-45709434	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs574044343	chr21:45709440-45709441	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs116409210	chr21:45709450-45709451	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs553477395	chr21:45709452-45709453	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs572223355	chr21:45709473-45709474	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545716689	chr21:45709480-45709481	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201491414	chr21:45709514-45709515	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs368374287	chr21:45709524-45709525	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371094356	chr21:45709525-45709526	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs146377356	chr21:45709541-45709542	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs139620961	chr21:45709542-45709543	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs375610687	chr21:45709550-45709551	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs200611273	chr21:45709559-45709560	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs201667085	chr21:45709563-45709564	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs1055311	chr21:45709568-45709569	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs121434257	chr21:45709569-45709570	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs145255118	chr21:45709592-45709593	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs149130190	chr21:45709604-45709605	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs142286875	chr21:45709605-45709606	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs374588482	chr21:45709620-45709621	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs147846074	chr21:45709626-45709627	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141480813	chr21:45709635-45709636	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs34397615	chr21:45709642-45709643	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs121434254	chr21:45709656-45709657	Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs387906295	chr21:45709676-45709677	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs140835367	chr21:45709680-45709681	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs201171818	chr21:45709682-45709683	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs41277550	chr21:45709685-45709686	Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs138489664	chr21:45709686-45709687	Weak transcription Bivalent Enhancer	TF binding region CpG island 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:644 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45702800-45714000	Weak transcription	GM12878-XiMat	blood
2	chr21:45704400-45711600	Weak transcription	Primary B cells from cord blood	blood
3	chr21:45706000-45714800	Weak transcription	Right Atrium	heart
4	chr21:45706200-45709200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr21:45707400-45714600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr21:45707600-45711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr21:45707800-45711600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr21:45708000-45710200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr21:45708200-45717400	Weak transcription	Pancreas	Pancrea
10	chr21:45708400-45711000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr21:45709200-45711600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr21:45709600-45709800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr21:45709600-45709800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr21:45709600-45709800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr21:45710200-45710400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr21:45710200-45715200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr21:45710600-45712600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr21:45710800-45711000	Bivalent Enhancer	Placenta	Placenta
19	chr21:45710800-45711400	Bivalent Enhancer	Fetal Muscle Leg	muscle
20	chr21:45711000-45711200	Enhancers	Right Ventricle	heart
21	chr21:45711000-45711800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:45711200-45711800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr21:45711200-45712400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr21:45711200-45713600	Weak transcription	Right Ventricle	heart
25	chr21:45711600-45711800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr21:45711600-45713000	Enhancers	Primary B cells from cord blood	blood
27	chr21:45711600-45713600	Bivalent Enhancer	Placenta	Placenta
28	chr21:45711600-45716200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr21:45711800-45712000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
30	chr21:45711800-45712200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr21:45711800-45712400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr21:45711800-45712600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr21:45711800-45713000	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr21:45711800-45715800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr21:45711800-45716000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr21:45712000-45712200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
37	chr21:45712000-45712400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr21:45712000-45719200	Enhancers	Primary B cells from peripheral blood	blood
39	chr21:45712200-45712400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr21:45712200-45712400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
41	chr21:45712200-45712600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr21:45712200-45713400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr21:45712200-45713800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr21:45712400-45712600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr21:45712400-45712600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr21:45712400-45712600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr21:45712400-45712600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr21:45712400-45712600	Enhancers	K562	blood
49	chr21:45712400-45713800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr21:45712400-45716000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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