Variant report

Variant	nsv522002
Chromosome Location	chr21:46542670-46551702
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:436)
CpG islands
(count:61)
Chromatin interactive
region (count:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:436 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr21:46548640-46548840	HepG2	liver:	n/a	n/a
2	ARID3A	chr21:46550093-46550534	K562	blood:	n/a	chr21:46550492-46550508
3	ATF3	chr21:46548629-46548806	K562	blood:	n/a	n/a
4	ATF3	chr21:46550183-46550491	K562	blood:	n/a	n/a
5	ATF3	chr21:46548548-46548833	GM12878	blood:	n/a	n/a
6	BCLAF1	chr21:46548534-46548857	GM12878	blood:	n/a	n/a
7	BCLAF1	chr21:46548461-46548891	GM12878	blood:	n/a	n/a
8	BHLHE40	chr21:46542670-46542870	GM12878	blood:	n/a	n/a
9	BHLHE40	chr21:46547849-46547961	K562	blood:	n/a	n/a
10	BHLHE40	chr21:46544816-46544998	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:46550406-46550667	GM12878	blood:	n/a	n/a
12	BHLHE40	chr21:46548630-46548781	K562	blood:	n/a	n/a
13	BRCA1	chr21:46549134-46549991	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr21:46550229-46550503	A549	lung:	n/a	n/a
15	CEBPB	chr21:46550219-46550404	HepG2	liver:	n/a	n/a
16	CEBPB	chr21:46548522-46548872	Hela-S3	cervix:	n/a	n/a
17	CEBPB	chr21:46550151-46550500	K562	blood:	n/a	n/a
18	CEBPB	chr21:46549443-46550566	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr21:46550178-46550535	IMR90	lung:	n/a	n/a
20	CEBPB	chr21:46550157-46550510	K562	blood:	n/a	n/a
21	CHD1	chr21:46550622-46550814	GM12878	blood:	n/a	n/a
22	CHD2	chr21:46549313-46549854	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr21:46548501-46548891	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr21:46548660-46548810	HCFaa	heart:	n/a	n/a
25	CTCF	chr21:46548600-46548750	HCM	heart:	n/a	n/a
26	CTCF	chr21:46548620-46548770	BJ	skin:	n/a	n/a
27	CTCF	chr21:46548567-46548890	MCF-7	breast:	n/a	n/a
28	CTCF	chr21:46548600-46548750	NHEK	skin:	n/a	n/a
29	CTCF	chr21:46548620-46548770	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr21:46548640-46548790	HRPEpiC	eye:	n/a	n/a
31	CTCF	chr21:46548660-46548810	GM12873	blood:	n/a	n/a
32	CTCF	chr21:46548612-46548842	HepG2	liver:	n/a	n/a
33	CTCF	chr21:46548530-46548853	ECC-1	luminal epithelium:	n/a	n/a
34	CTCF	chr21:46548640-46548790	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr21:46548640-46548790	GM12872	blood:	n/a	n/a
36	CTCF	chr21:46548640-46548790	NHEK	skin:	n/a	n/a
37	CTCF	chr21:46548680-46548830	GM12867	blood:	n/a	n/a
38	CTCF	chr21:46547480-46547630	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr21:46548600-46548843	K562	blood:	n/a	n/a
40	CTCF	chr21:46548640-46548790	NHDF-neo	bronchial:	n/a	n/a
41	CTCF	chr21:46548620-46548770	GM06990	blood:	n/a	n/a
42	CTCF	chr21:46548660-46548810	HepG2	liver:	n/a	n/a
43	CTCF	chr21:46548575-46548885	MCF-7	breast:	n/a	n/a
44	CTCF	chr21:46548660-46548810	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr21:46549559-46549684	MCF-7	breast:	n/a	n/a
46	CTCF	chr21:46548660-46548810	GM12875	blood:	n/a	n/a
47	CTCF	chr21:46548980-46549020	LNCaP	prostate:	n/a	n/a
48	CTCF	chr21:46549600-46549750	HEK293	kidney:	n/a	n/a
49	CTCF	chr21:46548594-46548878	GM10266	blood:	n/a	n/a
50	CTCF	chr21:46548660-46548810	HRE	kidney:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:46550644-46550694	GM12892	blood:	n/a
2	chr21:46550644-46550694	MCF10A-Er-Src	breast:	n/a
3	chr21:46550644-46550694	AG09319	gingival:	n/a
4	chr21:46550644-46550694	BE2_C	brain:	n/a
5	chr21:46550644-46550694	NT2-D1	testis:	n/a
6	chr21:46550644-46550694	HepG2	liver:	n/a
7	chr21:46550644-46550694	GM19239	blood:	n/a
8	chr21:46550644-46550694	HEEpiC	esophagus:	n/a
9	chr21:46550644-46550694	PFSK-1	brain:	n/a
10	chr21:46550644-46550694	IMR90	lung:	fetal
11	chr21:46550644-46550694	PrEC	prostate:	n/a
12	chr21:46550644-46550694	MCF-7	breast:	n/a
13	chr21:46550644-46550694	A549	lung:	n/a
14	chr21:46550644-46550694	HPAEpiC	pulmonary alveolar:	n/a
15	chr21:46550644-46550694	RPTEC	kidney:	n/a
16	chr21:46550644-46550694	ovcar-3	ovarian:	n/a
17	chr21:46550644-46550694	HCM	heart:	n/a
18	chr21:46550644-46550694	HUVEC	blood vessel:	n/a
19	chr21:46550644-46550694	CMK	blood:	n/a
20	chr21:46550644-46550694	K562	blood:	n/a
21	chr21:46550644-46550694	AG10803	skin:	n/a
22	chr21:46550644-46550694	GM06990	blood:	n/a
23	chr21:46550644-46550694	Hepatocyte	liver:	n/a
24	chr21:46550644-46550694	SK-N-SH	brain:	n/a
25	chr21:46550644-46550694	H1-hESC	embryonic stem cell:	embryo
26	chr21:46550644-46550694	PANC-1	pancreas:	n/a
27	chr21:46550644-46550694	ProgFib	skin:	n/a
28	chr21:46550644-46550694	HCPEpiC	choroid plexus:	n/a
29	chr21:46550644-46550694	Caco-2	colon:	n/a
30	chr21:46550644-46550694	SKMC	muscle:	n/a
31	chr21:46550644-46550694	HRPEpiC	eye:	n/a
32	chr21:46550644-46550694	U87	brain:	n/a
33	chr21:46550644-46550694	SK-N-SH_RA	brain:	n/a
34	chr21:46550644-46550694	GM12891	blood:	n/a
35	chr21:46550644-46550694	NB4	blood:	n/a
36	chr21:46550644-46550694	HCT-116	colon:	n/a
37	chr21:46550644-46550694	SK-N-MC	brain:	n/a
38	chr21:46550644-46550694	T-47D	breast:	n/a
39	chr21:46550644-46550694	BJ	skin:	n/a
40	chr21:46550644-46550694	NH-A	brain:	n/a
41	chr21:46550644-46550694	NHBE	bronchial:	n/a
42	chr21:46550644-46550694	Hela-S3	cervix:	n/a
43	chr21:46550644-46550694	HAEpiC	amniotic membrane:	n/a
44	chr21:46550644-46550694	AG09309	skin:	n/a
45	chr21:46550644-46550694	HIPEpiC	eye:	n/a
46	chr21:46550644-46550694	HEK293	kidney:	embryo
47	chr21:46550644-46550694	NHDF-neo	bronchial:	n/a
48	chr21:46550644-46550694	Jurkat	blood:	n/a
49	chr21:46550644-46550694	HL-60	blood:	n/a
50	chr21:46550644-46550694	HRE	kidney:	n/a

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:46493097..46497182-chr21:46538705..46543454,4	MCF-7	breast:
2	chr21:46530815..46533467-chr21:46549475..46551001,2	K562	blood:
3	chr21:46492248..46501057-chr21:46545477..46562980,48	K562	blood:
4	chr21:46493052..46496413-chr21:46547928..46550318,5	MCF-7	breast:
5	chr21:46415784..46416574-chr21:46548514..46549216,2	MCF-7	breast:
6	chr21:46497598..46499746-chr21:46541735..46543969,2	K562	blood:
7	chr21:46505531..46507502-chr21:46545208..46547761,2	MCF-7	breast:
8	chr21:46541198..46544422-chr21:46544789..46547564,3	K562	blood:
9	chr21:46347046..46349243-chr21:46545883..46548801,2	MCF-7	breast:
10	chr21:46541198..46544422-chr21:46544789..46547564,3	K562	blood:
11	chr21:46358799..46362946-chr21:46546409..46551680,5	K562	blood:
12	chr21:46220973..46223679-chr21:46545721..46547824,2	MCF-7	breast:
13	chr21:46349800..46352372-chr21:46542489..46545433,2	MCF-7	breast:
14	chr21:46518746..46519428-chr21:46547460..46548013,2	MCF-7	breast:
15	chr21:46533496..46535216-chr21:46545222..46548148,2	MCF-7	breast:
16	chr21:46492924..46497122-chr21:46547379..46551295,4	MCF-7	breast:
17	chr21:46539600..46541971-chr21:46548774..46550309,2	K562	blood:
18	chr21:46386181..46388411-chr21:46549880..46552492,2	MCF-7	breast:
19	chr21:46515041..46517271-chr21:46546796..46549469,2	K562	blood:
20	chr21:46486040..46487619-chr21:46542225..46544248,2	K562	blood:
21	chr21:46550409..46551930-chr21:46569679..46571872,2	MCF-7	breast:
22	chr21:46387326..46389294-chr21:46542023..46543987,2	MCF-7	breast:
23	chr21:46532796..46535414-chr21:46551102..46553894,2	K562	blood:
24	chr21:46544212..46547881-chr21:46548757..46552730,5	K562	blood:
25	chr21:46532701..46535408-chr21:46544266..46545864,2	K562	blood:
26	chr21:46488526..46490205-chr21:46542349..46544446,2	MCF-7	breast:
27	chr21:46491911..46497737-chr21:46547142..46552694,13	K562	blood:
28	chr21:46292448..46294904-chr21:46544879..46546978,2	K562	blood:
29	chr21:46494891..46496808-chr21:46543893..46546977,3	K562	blood:
30	chr21:46523822..46526157-chr21:46543907..46545528,2	MCF-7	breast:
31	chr21:46493588..46497852-chr21:46541349..46545442,5	K562	blood:
32	chr21:46544212..46547881-chr21:46548757..46552730,5	K562	blood:

No data

Variant related genes	Relation type
ADARB1	TF binding region
ADARB1	CpG island
ENSG00000197381	chromatin interactions
ENSG00000183255	chromatin interactions
ENSG00000184787	chromatin interactions
ENSG00000236519	chromatin interactions
ENSG00000235374	chromatin interactions
ENSG00000160256	chromatin interactions
ENSG00000273027	chromatin interactions
ENSG00000267857	chromatin interactions
ENSG00000268805	chromatin interactions
ENSG00000183250	chromatin interactions
ENSG00000268856	chromatin interactions
ENSG00000160255	chromatin interactions

Extended variants
information (count: 369 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs385674	chr21:46542670-46542671	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs118109808	chr21:46542685-46542686	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs181692592	chr21:46542686-46542687	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs559405483	chr21:46542772-46542773	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs552947377	chr21:46542794-46542795	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs577655262	chr21:46542801-46542802	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs150853670	chr21:46542809-46542810	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs187609246	chr21:46542848-46542849	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs568000545	chr21:46542866-46542867	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs542865339	chr21:46542873-46542874	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs190947114	chr21:46542907-46542908	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs573579039	chr21:46542915-46542916	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs180947214	chr21:46542921-46542922	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs199870850	chr21:46542969-46542970	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs111704908	chr21:46543027-46543028	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs567152594	chr21:46543060-46543061	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550625353	chr21:46543078-46543079	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs17004740	chr21:46543080-46543081	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76042193	chr21:46543103-46543104	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs534405990	chr21:46543131-46543132	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs117041726	chr21:46543137-46543138	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs566377891	chr21:46543158-46543159	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs10647195	chr21:46543189-46543190	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs386394871	chr21:46543190-46543191	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs72001987	chr21:46543199-46543200	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs386394872	chr21:46543208-46543209	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs56395227	chr21:46543209-46543210	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs75575265	chr21:46543210-46543211	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs142977005	chr21:46543211-46543212	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs200182061	chr21:46543212-46543213	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs527585466	chr21:46543213-46543214	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs398121688	chr21:46543214-46543215	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs538678678	chr21:46543251-46543252	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs185178382	chr21:46543275-46543276	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs552624774	chr21:46543278-46543279	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs115131842	chr21:46543292-46543293	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs391834	chr21:46543379-46543380	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573512805	chr21:46543380-46543381	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs531851400	chr21:46543393-46543394	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs540908348	chr21:46543409-46543410	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs559318333	chr21:46543417-46543418	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs576741931	chr21:46543426-46543427	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs543874627	chr21:46543465-46543466	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs549972270	chr21:46543479-46543480	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs529751109	chr21:46543495-46543496	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs541566488	chr21:46543510-46543511	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs559898758	chr21:46543523-46543524	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs36101223	chr21:46543533-46543534	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs35270096	chr21:46543594-46543595	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs552025124	chr21:46543604-46543605	Weak transcription Genic enhancers Enhancers Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
Breast cancer	17142309	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	17426248	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Amyotrophic lateral sclerosis	20842128	CNVD

Chromatin state (count:443 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46516400-46549400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr21:46523000-46548200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr21:46526400-46549400	Weak transcription	Brain Substantia Nigra	brain
4	chr21:46529400-46549400	Weak transcription	Esophagus	oesophagus
5	chr21:46529800-46554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr21:46530400-46548400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr21:46530400-46554600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr21:46530800-46554600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr21:46531400-46549600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr21:46531800-46548200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr21:46531800-46548200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr21:46531800-46548600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:46532600-46545200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr21:46532600-46552400	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr21:46532600-46570600	Weak transcription	Dnd41	blood
16	chr21:46532800-46548400	Weak transcription	Osteobl	bone
17	chr21:46534000-46543000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr21:46534800-46544200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr21:46534800-46545200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr21:46534800-46549600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr21:46535000-46544400	Weak transcription	Fetal Stomach	stomach
22	chr21:46535000-46545200	Weak transcription	Psoas Muscle	Psoas
23	chr21:46535200-46543400	Weak transcription	Fetal Muscle Leg	muscle
24	chr21:46535400-46544800	Weak transcription	Spleen	Spleen
25	chr21:46535400-46545200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr21:46536000-46549000	Weak transcription	HMEC	breast
27	chr21:46536200-46546400	Weak transcription	Right Ventricle	heart
28	chr21:46536600-46545200	Strong transcription	HSMM	muscle
29	chr21:46537200-46545200	Weak transcription	Left Ventricle	heart
30	chr21:46537400-46544600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr21:46537400-46544800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr21:46537400-46548200	Weak transcription	HUVEC	blood vessel
33	chr21:46537400-46548200	Weak transcription	NHEK	skin
34	chr21:46537600-46548200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr21:46538800-46552200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr21:46539000-46546400	Weak transcription	Fetal Intestine Small	intestine
37	chr21:46539600-46546800	Enhancers	Colon Smooth Muscle	Colon
38	chr21:46539800-46546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr21:46540600-46546800	Weak transcription	Aorta	Aorta
40	chr21:46540600-46549400	Weak transcription	Gastric	stomach
41	chr21:46540800-46543400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr21:46540800-46546600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr21:46541000-46542800	Genic enhancers	HSMMtube	muscle
44	chr21:46541200-46542800	Genic enhancers	Muscle Satellite Cultured Cells	--
45	chr21:46541200-46542800	Enhancers	Brain Germinal Matrix	brain
46	chr21:46541400-46545200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr21:46541400-46548000	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr21:46541400-46548400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr21:46541600-46543800	Enhancers	Rectal Smooth Muscle	rectum
50	chr21:46541600-46544800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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