Variant report

Variant	nsv913908
Chromosome Location	chr21:45679090-45711202
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:382)
CpG islands
(count:1648)
Chromatin interactive
region (count:57)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:45687514-45687872	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:45687573-45687691	K562	blood:	n/a	n/a
3	BACH1	chr21:45705844-45705867	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr21:45702375-45702509	GM12878	blood:	n/a	n/a
5	BHLHE40	chr21:45687402-45688012	K562	blood:	n/a	n/a
6	CEBPB	chr21:45678920-45679198	K562	blood:	n/a	n/a
7	CEBPB	chr21:45686668-45686740	HepG2	liver:	n/a	n/a
8	CEBPB	chr21:45687551-45687737	HepG2	liver:	n/a	n/a
9	CEBPB	chr21:45678940-45679276	Hela-S3	cervix:	n/a	n/a
10	CEBPB	chr21:45687481-45687896	K562	blood:	n/a	n/a
11	CEBPB	chr21:45678946-45679248	IMR90	lung:	n/a	n/a
12	CEBPB	chr21:45687523-45687782	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD2	chr21:45681498-45681620	HepG2	liver:	n/a	n/a
14	CHD2	chr21:45705555-45705642	H1-hESC	embryonic stem cell:	n/a	n/a
15	CHD2	chr21:45702416-45702447	GM12878	blood:	n/a	n/a
16	CTCF	chr21:45687540-45687690	GM12866	blood:	n/a	n/a
17	CTCF	chr21:45687603-45687680	NHEK	skin:	n/a	n/a
18	CTCF	chr21:45687557-45687728	GM12891	blood:	n/a	n/a
19	CTCF	chr21:45687600-45687750	GM12878	blood:	n/a	n/a
20	CTCF	chr21:45687860-45688010	HMEC	breast:	n/a	n/a
21	CTCF	chr21:45687417-45688125	MCF-7	breast:	n/a	n/a
22	CTCF	chr21:45687480-45687630	GM12870	blood:	n/a	n/a
23	CTCF	chr21:45687840-45688022	GM10248	blood:	n/a	n/a
24	CTCF	chr21:45687821-45688013	GM13977	blood:	n/a	n/a
25	CTCF	chr21:45687840-45687990	GM12871	blood:	n/a	n/a
26	CTCF	chr21:45687540-45687690	AoAF	blood vessel:	n/a	n/a
27	CTCF	chr21:45687544-45687747	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr21:45688607-45688658	Kidney_OC	kidney:	n/a	n/a
29	CTCF	chr21:45687560-45687710	HPAF	blood vessel:	n/a	n/a
30	CTCF	chr21:45687820-45687970	MCF-7	breast:	n/a	n/a
31	CTCF	chr21:45687540-45687690	GM12867	blood:	n/a	n/a
32	CTCF	chr21:45687760-45687910	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr21:45687460-45687610	HMEC	breast:	n/a	n/a
34	CTCF	chr21:45687920-45688070	HCM	heart:	n/a	n/a
35	CTCF	chr21:45687860-45688010	GM12866	blood:	n/a	n/a
36	CTCF	chr21:45705240-45705390	HUVEC	blood vessel:	n/a	chr21:45705376-45705389
37	CTCF	chr21:45687583-45687686	GM20000	blood:	n/a	n/a
38	CTCF	chr21:45687560-45687710	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr21:45687399-45688098	MCF-7	breast:	n/a	n/a
40	CTCF	chr21:45687560-45687710	WERI-Rb-1	eye:	n/a	n/a
41	CTCF	chr21:45687600-45687750	GM12874	blood:	n/a	n/a
42	CTCF	chr21:45687780-45687930	AG10803	skin:	n/a	n/a
43	CTCF	chr21:45687660-45687810	HMF	breast:	n/a	n/a
44	CTCF	chr21:45687594-45687702	Pancreas_OC	pancreas:	n/a	n/a
45	CTCF	chr21:45687988-45687991	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr21:45687640-45687790	MCF-7	breast:	n/a	n/a
47	CTCF	chr21:45687540-45687690	HA-sp	spinal cord:	n/a	n/a
48	CTCF	chr21:45687546-45687752	GM19240	blood:	n/a	n/a
49	CTCF	chr21:45687820-45687970	HCPEpiC	choroid plexus:	n/a	n/a
50	CTCF	chr21:45687580-45687730	HEK293	kidney:	n/a	n/a

(count:1648 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45683513-45683563	U87	brain:	n/a
2	chr21:45683513-45683563	U87	brain:	n/a
3	chr21:45705740-45705790	HRE	kidney:	n/a
4	chr21:45705686-45705736	H1-hESC	embryonic stem cell:	embryo
5	chr21:45705267-45705317	MCF10A-Er-Src	breast:	n/a
6	chr21:45710296-45710346	A549	lung:	n/a
7	chr21:45683528-45683578	ProgFib	skin:	n/a
8	chr21:45709595-45709645	GM12878	blood:	n/a
9	chr21:45705742-45705792	NH-A	brain:	n/a
10	chr21:45702039-45702089	GM12892	blood:	n/a
11	chr21:45705618-45705668	MCF10A-Er-Src	breast:	n/a
12	chr21:45705175-45705225	AG04449	skin:	fetal
13	chr21:45705740-45705790	Hela-S3	cervix:	n/a
14	chr21:45705686-45705736	HMEC	breast:	n/a
15	chr21:45683146-45683196	Jurkat	blood:	n/a
16	chr21:45710296-45710346	SAEC	small airway:	n/a
17	chr21:45705742-45705792	AG04449	skin:	fetal
18	chr21:45710225-45710275	PANC-1	pancreas:	n/a
19	chr21:45683528-45683578	AoSMC	blood vessel:	n/a
20	chr21:45706043-45706093	HEEpiC	esophagus:	n/a
21	chr21:45683513-45683563	HRE	kidney:	n/a
22	chr21:45705686-45705736	MCF10A-Er-Src	breast:	n/a
23	chr21:45705694-45705744	RPTEC	kidney:	n/a
24	chr21:45706043-45706093	GM12891	blood:	n/a
25	chr21:45705742-45705792	SK-N-SH	brain:	n/a
26	chr21:45710296-45710346	Caco-2	colon:	n/a
27	chr21:45683528-45683578	SK-N-MC	brain:	n/a
28	chr21:45710225-45710275	GM12891	blood:	n/a
29	chr21:45705721-45705771	NHDF-neo	bronchial:	n/a
30	chr21:45705618-45705668	HCPEpiC	choroid plexus:	n/a
31	chr21:45705721-45705771	HCF	heart:	n/a
32	chr21:45683513-45683563	HEK293	kidney:	embryo
33	chr21:45710206-45710256	HRPEpiC	eye:	n/a
34	chr21:45705267-45705317	HepG2	liver:	n/a
35	chr21:45710206-45710256	AG09309	skin:	n/a
36	chr21:45705175-45705225	HRE	kidney:	n/a
37	chr21:45679577-45679627	Hela-S3	cervix:	n/a
38	chr21:45683513-45683563	HRPEpiC	eye:	n/a
39	chr21:45705742-45705792	HIPEpiC	eye:	n/a
40	chr21:45702039-45702089	HRPEpiC	eye:	n/a
41	chr21:45705740-45705790	NH-A	brain:	n/a
42	chr21:45705699-45705749	HMEC	breast:	n/a
43	chr21:45710206-45710256	PFSK-1	brain:	n/a
44	chr21:45705699-45705749	GM19239	blood:	n/a
45	chr21:45705740-45705790	HepG2	liver:	n/a
46	chr21:45705686-45705736	Caco-2	colon:	n/a
47	chr21:45683528-45683578	HepG2	liver:	n/a
48	chr21:45705742-45705792	Hepatocyte	liver:	n/a
49	chr21:45705175-45705225	ECC-1	luminal epithelium:	n/a
50	chr21:45705994-45706044	HNPCEpiC	eye:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
2	chr21:45668732..45670990-chr21:45677363..45679329,2	K562	blood:
3	chr21:45686069..45687647-chr21:45693392..45695826,2	MCF-7	breast:
4	chr21:45557824..45558392-chr21:45687403..45688070,2	MCF-7	breast:
5	chr21:45620985..45623729-chr21:45685663..45688177,2	MCF-7	breast:
6	chr21:45686069..45687647-chr21:45693392..45695826,2	MCF-7	breast:
7	chr21:45706192..45708380-chr9:137402919..137404419,2	K562	blood:
8	chr21:45689868..45692167-chr21:45702477..45704899,2	K562	blood:
9	chr21:45679679..45681882-chr21:45689194..45690774,2	K562	blood:
10	chr21:45677174..45681552-chr21:45685520..45688325,5	K562	blood:
11	chr21:45678302..45680831-chr21:45686072..45687676,2	MCF-7	breast:
12	chr21:45620857..45623394-chr21:45709649..45711804,3	MCF-7	breast:
13	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
14	chr21:45698387..45700699-chr21:45707290..45709157,2	MCF-7	breast:
15	chr21:45621144..45622830-chr21:45706293..45708596,2	MCF-7	breast:
16	chr21:45677975..45679719-chr21:45719083..45722045,2	K562	blood:
17	chr21:45533786..45534376-chr21:45687482..45688014,2	K562	blood:
18	chr21:45565887..45566563-chr21:45687420..45688175,3	MCF-7	breast:
19	chr21:45707337..45709850-chr21:45719040..45720575,2	K562	blood:
20	chr21:45680024..45682686-chr21:45686763..45689185,2	MCF-7	breast:
21	chr21:45565598..45568910-chr21:45683665..45687558,4	MCF-7	breast:
22	chr21:45703655..45709073-chr21:45718662..45721905,6	MCF-7	breast:
23	chr21:45692048..45693952-chr21:45722108..45724674,2	K562	blood:
24	chr21:45699767..45703911-chr21:45704221..45706771,4	MCF-7	breast:
25	chr21:45680895..45685107-chr21:45717932..45721130,4	MCF-7	breast:
26	chr21:45691409..45693575-chr21:45710437..45713277,2	MCF-7	breast:
27	chr21:45664074..45664939-chr21:45687442..45688212,2	MCF-7	breast:
28	chr21:45566739..45567723-chr21:45686774..45688389,6	MCF-7	breast:
29	chr21:45657604..45660265-chr21:45683962..45685836,2	K562	blood:
30	chr21:45566333..45568357-chr21:45695334..45697584,2	K562	blood:
31	chr21:45678302..45680831-chr21:45686072..45687676,2	MCF-7	breast:
32	chr21:45707047..45709447-chr21:45711047..45712909,2	MCF-7	breast:
33	chr21:45557605..45558493-chr21:45687590..45688226,4	MCF-7	breast:
34	chr21:45568433..45570363-chr21:45694165..45695701,2	MCF-7	breast:
35	chr21:45688481..45690042-chr21:45719293..45721540,2	MCF-7	breast:
36	chr21:45687866..45689846-chr21:45707604..45709225,2	MCF-7	breast:
37	chr21:45568318..45571293-chr21:45707823..45709583,2	K562	blood:
38	chr21:45661660..45663213-chr21:45700955..45703674,2	K562	blood:
39	chr21:45644343..45646450-chr21:45701805..45703427,2	MCF-7	breast:
40	chr21:45659418..45662938-chr21:45698078..45703771,5	MCF-7	breast:
41	chr21:45675362..45678242-chr21:45707030..45708929,2	K562	blood:
42	chr21:45663828..45666335-chr21:45687884..45690743,2	MCF-7	breast:
43	chr21:45399321..45400230-chr21:45687198..45688294,3	K562	blood:
44	chr21:45675362..45677457-chr21:45707030..45709484,2	K562	blood:
45	chr21:45679421..45681484-chr21:45691729..45694649,2	MCF-7	breast:
46	chr21:45703415..45705838-chr21:45706496..45708664,2	K562	blood:
47	chr21:45654371..45654896-chr21:45687445..45688145,2	K562	blood:
48	chr21:45698387..45700699-chr21:45707290..45709157,2	MCF-7	breast:
49	chr21:45564263..45568124-chr21:45686122..45689149,5	K562	blood:
50	chr21:45664753..45666308-chr21:45706084..45707885,2	MCF-7	breast:

No data

Variant related genes	Relation type
DNMT3L	TF binding region
AIRE	TF binding region
DNMT3L	CpG island
AIRE	CpG island
ENSG00000232010	chromatin interactions
ENSG00000232124	chromatin interactions
ENSG00000141959	chromatin interactions
ENSG00000160224	chromatin interactions
ENSG00000142182	chromatin interactions
ENSG00000160223	chromatin interactions

Extended variants
information (count: 1655 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1655 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2276247	chr21:45679090-45679091	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs142370011	chr21:45679091-45679092	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs572252849	chr21:45679123-45679124	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs111980318	chr21:45679134-45679135	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs558094774	chr21:45679136-45679137	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs147925049	chr21:45679137-45679138	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs141724382	chr21:45679181-45679182	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs762424	chr21:45679230-45679231	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs2276248	chr21:45679258-45679259	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs377045212	chr21:45679270-45679271	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs147092385	chr21:45679280-45679281	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs368079595	chr21:45679294-45679295	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs373574642	chr21:45679295-45679296	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs372124392	chr21:45679296-45679297	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs189180338	chr21:45679297-45679298	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375693062	chr21:45679312-45679313	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs201192288	chr21:45679313-45679314	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs373066083	chr21:45679319-45679320	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs143186240	chr21:45679330-45679331	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs373201082	chr21:45679344-45679345	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs531078155	chr21:45679349-45679350	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549252923	chr21:45679359-45679360	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs79589187	chr21:45679361-45679362	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs142812089	chr21:45679389-45679390	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs534705692	chr21:45679394-45679395	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs147370440	chr21:45679399-45679400	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs545915652	chr21:45679400-45679401	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs571611181	chr21:45679402-45679403	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377755717	chr21:45679403-45679404	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs371195341	chr21:45679408-45679409	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs35786892	chr21:45679433-45679434	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199702367	chr21:45679486-45679487	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79834782	chr21:45679488-45679489	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs557955171	chr21:45679522-45679523	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs138041176	chr21:45679527-45679528	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs143402572	chr21:45679565-45679566	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs377354849	chr21:45679578-45679579	Weak transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs555351710	chr21:45679605-45679606	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs370355304	chr21:45679651-45679652	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138515449	chr21:45679705-45679706	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs540658716	chr21:45679731-45679732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs559406105	chr21:45679908-45679909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78915723	chr21:45679931-45679932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78774324	chr21:45679934-45679935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577270899	chr21:45679952-45679953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545214176	chr21:45679957-45679958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563576796	chr21:45679984-45679985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530990655	chr21:45679997-45679998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549314039	chr21:45680001-45680002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs561413899	chr21:45680010-45680011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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

Chromatin state (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45662800-45705600	Weak transcription	Right Atrium	heart
2	chr21:45666200-45681000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr21:45671800-45681400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr21:45679000-45679800	Enhancers	Hela-S3	cervix
5	chr21:45679200-45679400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:45679200-45679600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr21:45679600-45681000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr21:45681000-45681200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr21:45681000-45681600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr21:45681000-45681800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr21:45681000-45682600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr21:45681200-45681800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr21:45681400-45681800	Bivalent Enhancer	HepG2	liver
14	chr21:45681400-45682000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr21:45681600-45681800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr21:45681600-45683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr21:45681800-45683000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:45681800-45683000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr21:45681800-45683200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:45682000-45682400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr21:45682400-45683800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr21:45682600-45683000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr21:45682600-45684600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr21:45682800-45684000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr21:45683000-45683200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr21:45683000-45683400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr21:45683000-45683600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr21:45683000-45683600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr21:45683000-45683800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr21:45683000-45683800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr21:45683000-45683800	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr21:45683000-45684000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr21:45683000-45684000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:45683000-45684000	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr21:45683000-45684200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:45683200-45683400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr21:45683200-45683400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr21:45683200-45683400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:45683200-45683400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr21:45683200-45683400	Bivalent Enhancer	Fetal Stomach	stomach
41	chr21:45683200-45683600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr21:45683200-45683600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
43	chr21:45683200-45683600	Enhancers	Fetal Lung	lung
44	chr21:45683200-45683800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr21:45683200-45683800	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr21:45683200-45683800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr21:45683200-45683800	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr21:45683200-45683800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr21:45683200-45683800	Enhancers	Fetal Muscle Leg	muscle
50	chr21:45683200-45684000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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