Variant report

Variant	esv3424604
Chromosome Location	chr21:45749174-45751672
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:226)
CpG islands
(count:184)
Chromatin interactive
region (count:3)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:226 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr21:45748645-45749862	GM12878	blood:	n/a	n/a
2	BCL3	chr21:45748102-45750488	GM12878	blood:	n/a	chr21:45748793-45748802
3	BCL3	chr21:45750319-45750780	GM12878	blood:	n/a	n/a
4	BCL3	chr21:45749942-45750251	GM12878	blood:	n/a	n/a
5	BCL3	chr21:45748596-45749466	GM12878	blood:	n/a	chr21:45748793-45748802
6	BCL3	chr21:45748713-45749274	A549	lung:	n/a	chr21:45748793-45748802
7	BCL3	chr21:45751072-45751562	GM12878	blood:	n/a	n/a
8	BCL3	chr21:45751137-45751574	GM12878	blood:	n/a	n/a
9	BCLAF1	chr21:45748714-45749319	GM12878	blood:	n/a	chr21:45748793-45748802
10	BCLAF1	chr21:45748903-45749249	GM12878	blood:	n/a	n/a
11	BHLHE40	chr21:45750373-45750571	K562	blood:	n/a	n/a
12	CCNT2	chr21:45749562-45750415	K562	blood:	n/a	chr21:45750270-45750279
13	CHD2	chr21:45750222-45750493	K562	blood:	n/a	n/a
14	CHD2	chr21:45748710-45749364	GM12878	blood:	n/a	n/a
15	CHD2	chr21:45749212-45749320	HepG2	liver:	n/a	n/a
16	CHD2	chr21:45750861-45751039	HepG2	liver:	n/a	n/a
17	CHD2	chr21:45750246-45750431	HepG2	liver:	n/a	n/a
18	CTCF	chr21:45750620-45750770	HRPEpiC	eye:	n/a	n/a
19	CTCF	chr21:45750640-45750790	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr21:45750640-45750790	HBMEC	blood vessel:	n/a	n/a
21	ELF1	chr21:45748316-45749860	MCF-7	breast:	n/a	n/a
22	ELF1	chr21:45750518-45751384	GM12878	blood:	n/a	n/a
23	ELF1	chr21:45748780-45749209	GM12878	blood:	n/a	n/a
24	ELF1	chr21:45748763-45749473	GM12878	blood:	n/a	n/a
25	ELF1	chr21:45750044-45750439	GM12878	blood:	n/a	n/a
26	ELF1	chr21:45749684-45750176	GM12878	blood:	n/a	n/a
27	ELF1	chr21:45750849-45751334	GM12878	blood:	n/a	n/a
28	FOSL2	chr21:45751349-45752066	HepG2	liver:	n/a	n/a
29	FOSL2	chr21:45748745-45750778	MCF-7	breast:	n/a	n/a
30	FOSL2	chr21:45747301-45751180	HepG2	liver:	n/a	chr21:45748315-45748326 chr21:45747628-45747639
31	GATA2	chr21:45748891-45749372	SH-SY5Y	brain:	n/a	n/a
32	GATA3	chr21:45749026-45749331	SH-SY5Y	brain:	n/a	n/a
33	HMGN3	chr21:45748961-45749233	K562	blood:	n/a	n/a
34	HMGN3	chr21:45750005-45750452	K562	blood:	n/a	n/a
35	JUND	chr21:45749583-45751012	MCF-7	breast:	n/a	n/a
36	MAX	chr21:45751652-45752207	MCF-7	breast:	n/a	n/a
37	MAX	chr21:45750226-45750638	K562	blood:	n/a	n/a
38	MAZ	chr21:45751107-45751131	HepG2	liver:	n/a	n/a
39	MAZ	chr21:45749205-45749314	Hela-S3	cervix:	n/a	n/a
40	MTA3	chr21:45747728-45750894	GM12878	blood:	n/a	n/a
41	MTA3	chr21:45748661-45749455	GM12878	blood:	n/a	n/a
42	MTA3	chr21:45751088-45752199	GM12878	blood:	n/a	n/a
43	MXI1	chr21:45751612-45752366	IMR90	lung:	n/a	n/a
44	MXI1	chr21:45748848-45749484	SK-N-SH	brain:	n/a	n/a
45	NFATC1	chr21:45748031-45750468	GM12878	blood:	n/a	n/a
46	NFATC1	chr21:45748381-45750114	GM12878	blood:	n/a	n/a
47	NFIC	chr21:45749309-45749643	GM12878	blood:	n/a	n/a
48	PAX5	chr21:45748623-45749534	GM12878	blood:	n/a	chr21:45748793-45748802
49	PAX5	chr21:45748896-45749305	GM12891	blood:	n/a	n/a
50	PAX5	chr21:45748927-45749216	GM12892	blood:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:45751204-45751254	HNPCEpiC	eye:	n/a
2	chr21:45751204-45751254	HNPCEpiC	eye:	n/a
3	chr21:45751145-45751195	PrEC	prostate:	n/a
4	chr21:45751204-45751254	HEK293	kidney:	embryo
5	chr21:45751145-45751195	HMEC	breast:	n/a
6	chr21:45751145-45751195	SK-N-MC	brain:	n/a
7	chr21:45751145-45751195	LNCaP	prostate:	n/a
8	chr21:45749343-45749393	GM19239	blood:	n/a
9	chr21:45749343-45749393	SK-N-MC	brain:	n/a
10	chr21:45751145-45751195	AG04450	lung:	fetal
11	chr21:45751145-45751195	PANC-1	pancreas:	n/a
12	chr21:45751145-45751195	K562	blood:	n/a
13	chr21:45751145-45751195	Hela-S3	cervix:	n/a
14	chr21:45749343-45749393	HAEpiC	amniotic membrane:	n/a
15	chr21:45749343-45749393	HUVEC	blood vessel:	n/a
16	chr21:45749343-45749393	HIPEpiC	eye:	n/a
17	chr21:45749343-45749393	GM12878	blood:	n/a
18	chr21:45751145-45751195	GM06990	blood:	n/a
19	chr21:45751145-45751195	PFSK-1	brain:	n/a
20	chr21:45751145-45751195	NT2-D1	testis:	n/a
21	chr21:45749343-45749393	NHDF-neo	bronchial:	n/a
22	chr21:45751145-45751195	RPTEC	kidney:	n/a
23	chr21:45751204-45751254	H1-hESC	embryonic stem cell:	embryo
24	chr21:45749343-45749393	NH-A	brain:	n/a
25	chr21:45751145-45751195	SK-N-SH	brain:	n/a
26	chr21:45749343-45749393	T-47D	breast:	n/a
27	chr21:45749343-45749393	Hepatocyte	liver:	n/a
28	chr21:45751145-45751195	IMR90	lung:	fetal
29	chr21:45751204-45751254	LNCaP	prostate:	n/a
30	chr21:45751204-45751254	NT2-D1	testis:	n/a
31	chr21:45749343-45749393	K562	blood:	n/a
32	chr21:45749343-45749393	ProgFib	skin:	n/a
33	chr21:45749343-45749393	SAEC	small airway:	n/a
34	chr21:45749343-45749393	GM12892	blood:	n/a
35	chr21:45749343-45749393	ovcar-3	ovarian:	n/a
36	chr21:45751145-45751195	HCT-116	colon:	n/a
37	chr21:45749343-45749393	SK-N-SH	brain:	n/a
38	chr21:45751145-45751195	GM12878	blood:	n/a
39	chr21:45751204-45751254	IMR90	lung:	fetal
40	chr21:45751145-45751195	HIPEpiC	eye:	n/a
41	chr21:45749343-45749393	SK-N-SH_RA	brain:	n/a
42	chr21:45751145-45751195	T-47D	breast:	n/a
43	chr21:45751145-45751195	HPAEpiC	pulmonary alveolar:	n/a
44	chr21:45751145-45751195	NB4	blood:	n/a
45	chr21:45751145-45751195	SK-N-SH_RA	brain:	n/a
46	chr21:45751204-45751254	BJ	skin:	n/a
47	chr21:45751204-45751254	HPAEpiC	pulmonary alveolar:	n/a
48	chr21:45749343-45749393	HMEC	breast:	n/a
49	chr21:45751204-45751254	RPTEC	kidney:	n/a
50	chr21:45751204-45751254	Hela-S3	cervix:	n/a

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45554911..45556984-chr21:45748487..45750206,2	K562	blood:
2	chr21:45552255..45555608-chr21:45751000..45753544,3	K562	blood:
3	chr21:45551466..45554089-chr21:45749737..45751999,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C21orf2-1	chr21:45749514-45749929	ENSG00000241728.1
2	lnc-C21orf2-1	chr21:45749963-45750104	ENSG00000241728.1
3	lnc-C21orf2-1	chr21:45749514-45749702	ENSG00000241728.1
4	lnc-PFKL-1	chr21:45751119-45751543	NONHSAT082507

No data

Variant related genes	Relation type
ENSG00000184441	TF binding region
ENSG00000241728	TF binding region
ENSG00000255902	TF binding region
ENSG00000184441	CpG island
ENSG00000241728	CpG island
ENSG00000255902	CpG island
ENSG00000160221	chromatin interactions

Extended variants
information (count: 167 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:167 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140378076	chr21:45749232-45749233	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs535319791	chr21:45749274-45749275	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs550953519	chr21:45749291-45749292	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs150368688	chr21:45749301-45749302	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs138214126	chr21:45749322-45749323	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs116737357	chr21:45749342-45749343	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558035641	chr21:45749356-45749357	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs73907168	chr21:45749385-45749386	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs573994334	chr21:45749401-45749402	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs537034772	chr21:45749419-45749420	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs555204989	chr21:45749434-45749435	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs534691618	chr21:45749438-45749439	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs573655806	chr21:45749444-45749445	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs60469495	chr21:45749456-45749457	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs553545644	chr21:45749458-45749459	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs115857899	chr21:45749460-45749461	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs545343167	chr21:45749472-45749473	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs563632372	chr21:45749501-45749502	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs530851137	chr21:45749509-45749510	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs542989343	chr21:45749538-45749539	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
21	rs369516551	chr21:45749543-45749544	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
22	rs561098091	chr21:45749552-45749553	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
23	rs528601860	chr21:45749577-45749578	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
24	rs546739223	chr21:45749604-45749605	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
25	rs139131768	chr21:45749617-45749618	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
26	rs533156525	chr21:45749622-45749623	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
27	rs551740814	chr21:45749651-45749652	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
28	rs569949897	chr21:45749686-45749687	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
29	rs73907169	chr21:45749693-45749694	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73907170	chr21:45749704-45749705	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs374967367	chr21:45749710-45749711	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
32	rs543710749	chr21:45749714-45749715	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
33	rs573366125	chr21:45749736-45749737	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
34	rs181149547	chr21:45749760-45749761	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
35	rs372930994	chr21:45749787-45749788	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
36	rs534722715	chr21:45749795-45749796	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
37	rs552792461	chr21:45749803-45749804	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
38	rs1056687	chr21:45749845-45749846	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
39	rs577858726	chr21:45749848-45749849	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
40	rs1056689	chr21:45749861-45749862	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
41	rs545183540	chr21:45749907-45749908	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
42	rs115529052	chr21:45749946-45749947	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs575555871	chr21:45749963-45749964	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
44	rs149386620	chr21:45749996-45749997	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
45	rs561344830	chr21:45750012-45750013	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
46	rs528429254	chr21:45750015-45750016	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
47	rs376322324	chr21:45750036-45750037	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
48	rs368976859	chr21:45750043-45750044	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
49	rs9306098	chr21:45750048-45750049	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs377441507	chr21:45750049-45750050	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Williams-beuren syndrome	16826523	CNVD

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45721000-45757600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr21:45725000-45758000	Weak transcription	Right Atrium	heart
3	chr21:45725600-45752800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr21:45725800-45757400	Strong transcription	Thymus	Thymus
5	chr21:45726000-45749200	Strong transcription	NHLF	lung
6	chr21:45726200-45753200	Strong transcription	Fetal Stomach	stomach
7	chr21:45726400-45751600	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:45726600-45749400	Strong transcription	Brain Germinal Matrix	brain
9	chr21:45726600-45749400	Strong transcription	Fetal Intestine Large	intestine
10	chr21:45726600-45753200	Strong transcription	Gastric	stomach
11	chr21:45726600-45757200	Strong transcription	Fetal Intestine Small	intestine
12	chr21:45727000-45750600	Strong transcription	Fetal Brain Female	brain
13	chr21:45727600-45750200	Weak transcription	NHDF-Ad	bronchial
14	chr21:45727600-45751200	Strong transcription	Fetal Muscle Trunk	muscle
15	chr21:45727800-45751800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:45729400-45752800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr21:45731400-45757800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr21:45731400-45758000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr21:45731400-45758000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr21:45731400-45758000	Weak transcription	A549	lung
21	chr21:45731600-45756200	Weak transcription	Osteobl	bone
22	chr21:45731600-45758000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr21:45731800-45757600	Weak transcription	Fetal Kidney	kidney
24	chr21:45731800-45758000	Weak transcription	HSMM	muscle
25	chr21:45732600-45753600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr21:45733400-45758000	Weak transcription	Psoas Muscle	Psoas
27	chr21:45734000-45758000	Weak transcription	HUVEC	blood vessel
28	chr21:45734200-45757800	Weak transcription	Hela-S3	cervix
29	chr21:45734400-45758000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:45735600-45749600	Strong transcription	Spleen	Spleen
31	chr21:45736600-45749600	Strong transcription	Pancreas	Pancrea
32	chr21:45736600-45757200	Strong transcription	Lung	lung
33	chr21:45738400-45756200	Weak transcription	HSMMtube	muscle
34	chr21:45740200-45758000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr21:45740800-45754600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr21:45743000-45759000	Weak transcription	Primary B cells from cord blood	blood
37	chr21:45744000-45755000	Weak transcription	HepG2	liver
38	chr21:45744200-45757800	Weak transcription	GM12878-XiMat	blood
39	chr21:45744600-45757800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr21:45744800-45756000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr21:45745200-45757000	Weak transcription	K562	blood
42	chr21:45745400-45756000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:45745400-45759000	Weak transcription	Small Intestine	intestine
44	chr21:45745600-45757800	Weak transcription	HMEC	breast
45	chr21:45745800-45751200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr21:45745800-45751800	Weak transcription	Colon Smooth Muscle	Colon
47	chr21:45745800-45754600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr21:45745800-45757800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr21:45745800-45758200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr21:45746000-45751600	Weak transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links