Variant report

Variant	nsv544414
Chromosome Location	chr21:28443252-28537209
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr21:28504472-28504951	ECC-1	luminal epithelium:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
2	CEBPB	chr21:28466547-28466864	K562	blood:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
3	CEBPB	chr21:28466544-28466856	IMR90	lung:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
4	CEBPB	chr21:28466555-28466833	A549	lung:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
5	CEBPB	chr21:28529394-28529614	HepG2	liver:	n/a	chr21:28529504-28529515
6	CEBPB	chr21:28466514-28466939	ECC-1	luminal epithelium:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
7	CEBPB	chr21:28515696-28515896	HepG2	liver:	n/a	n/a
8	CEBPB	chr21:28504527-28504886	A549	lung:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
9	CEBPB	chr21:28504429-28504975	ECC-1	luminal epithelium:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
10	CEBPB	chr21:28477520-28478090	ECC-1	luminal epithelium:	n/a	n/a
11	CEBPB	chr21:28504540-28504902	Hela-S3	cervix:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
12	CEBPB	chr21:28504604-28504814	K562	blood:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
13	CEBPB	chr21:28477173-28477984	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr21:28473831-28474256	Hela-S3	cervix:	n/a	n/a
15	CEBPB	chr21:28476005-28476196	K562	blood:	n/a	chr21:28476119-28476132
16	CEBPB	chr21:28476004-28476218	IMR90	lung:	n/a	chr21:28476119-28476132
17	CEBPB	chr21:28466510-28466903	Hela-S3	cervix:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
18	CEBPB	chr21:28515693-28515893	A549	lung:	n/a	n/a
19	CEBPB	chr21:28475915-28476349	ECC-1	luminal epithelium:	n/a	chr21:28476119-28476132
20	CEBPB	chr21:28504522-28504910	IMR90	lung:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
21	CEBPB	chr21:28477033-28478042	ECC-1	luminal epithelium:	n/a	n/a
22	CEBPB	chr21:28466527-28466866	HepG2	liver:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
23	CEBPB	chr21:28515710-28515948	IMR90	lung:	n/a	n/a
24	CEBPB	chr21:28504531-28504898	H1-hESC	embryonic stem cell:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
25	CEBPB	chr21:28524240-28524531	IMR90	lung:	n/a	n/a
26	CEBPB	chr21:28504535-28504881	HepG2	liver:	n/a	chr21:28504716-28504725 chr21:28504714-28504727 chr21:28504714-28504725 chr21:28504714-28504727 chr21:28504716-28504725 chr21:28504716-28504725
27	CEBPB	chr21:28477592-28478003	IMR90	lung:	n/a	n/a
28	CEBPB	chr21:28466542-28466927	ECC-1	luminal epithelium:	n/a	chr21:28466694-28466705 chr21:28466696-28466707 chr21:28466717-28466730 chr21:28466709-28466720 chr21:28466709-28466722 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466711-28466720 chr21:28466694-28466707 chr21:28466719-28466730 chr21:28466711-28466720 chr21:28466711-28466720 chr21:28466719-28466730 chr21:28466710-28466721
29	CHD2	chr21:28477341-28477938	Hela-S3	cervix:	n/a	n/a
30	CREB1	chr21:28483277-28483697	ECC-1	luminal epithelium:	n/a	n/a
31	CTCF	chr21:28525460-28525610	NHEK	skin:	n/a	n/a
32	CTCF	chr21:28522308-28522349	GM13976	blood:	n/a	n/a
33	CTCF	chr21:28443240-28443390	AoAF	blood vessel:	n/a	chr21:28443315-28443336
34	CTCF	chr21:28483800-28483950	Caco-2	colon:	n/a	n/a
35	CTCF	chr21:28484400-28484550	NHEK	skin:	n/a	n/a
36	CTCF	chr21:28461011-28461052	GM10248	blood:	n/a	n/a
37	CTCF	chr21:28454280-28454430	HCM	heart:	n/a	n/a
38	CTCF	chr21:28510926-28510936	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr21:28469675-28469704	LNCaP	prostate:	n/a	n/a
40	CTCF	chr21:28525340-28525490	HMEC	breast:	n/a	chr21:28525417-28525425
41	CTCF	chr21:28477640-28477790	HepG2	liver:	n/a	n/a
42	CTCF	chr21:28495917-28495982	GM13977	blood:	n/a	n/a
43	CTCF	chr21:28533513-28533608	GM13976	blood:	n/a	n/a
44	CTCF	chr21:28525383-28525497	NHEK	skin:	n/a	chr21:28525417-28525425
45	E2F4	chr21:28484599-28485093	MCF10A-Er-Src	breast:	n/a	n/a
46	EGR1	chr21:28477141-28477630	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr21:28483075-28483831	ECC-1	luminal epithelium:	n/a	n/a
48	EP300	chr21:28484407-28484824	SK-N-SH_RA	brain:	n/a	n/a
49	EP300	chr21:28471161-28471163	GM12878	blood:	n/a	n/a
50	EP300	chr21:28502617-28502971	SK-N-SH_RA	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:28515863-28515913	SAEC	small airway:	n/a
2	chr21:28515863-28515913	SAEC	small airway:	n/a
3	chr21:28514326-28514376	HEEpiC	esophagus:	n/a
4	chr21:28516018-28516068	H1-hESC	embryonic stem cell:	embryo
5	chr21:28514326-28514376	MCF-7	breast:	n/a
6	chr21:28514326-28514376	HCT-116	colon:	n/a
7	chr21:28514326-28514376	Caco-2	colon:	n/a
8	chr21:28516018-28516068	HMEC	breast:	n/a
9	chr21:28515863-28515913	GM19239	blood:	n/a
10	chr21:28515863-28515913	HIPEpiC	eye:	n/a
11	chr21:28514326-28514376	PrEC	prostate:	n/a
12	chr21:28514326-28514376	SK-N-SH	brain:	n/a
13	chr21:28516018-28516068	GM06990	blood:	n/a
14	chr21:28516138-28516188	GM12892	blood:	n/a
15	chr21:28516138-28516188	SK-N-SH_RA	brain:	n/a
16	chr21:28516018-28516068	Caco-2	colon:	n/a
17	chr21:28516018-28516068	LNCaP	prostate:	n/a
18	chr21:28516138-28516188	IMR90	lung:	fetal
19	chr21:28516018-28516068	MCF10A-Er-Src	breast:	n/a
20	chr21:28516018-28516068	GM12891	blood:	n/a
21	chr21:28515863-28515913	HCF	heart:	n/a
22	chr21:28514326-28514376	PFSK-1	brain:	n/a
23	chr21:28514326-28514376	NT2-D1	testis:	n/a
24	chr21:28516138-28516188	ProgFib	skin:	n/a
25	chr21:28516138-28516188	SK-N-MC	brain:	n/a
26	chr21:28514326-28514376	GM06990	blood:	n/a
27	chr21:28516138-28516188	PrEC	prostate:	n/a
28	chr21:28514326-28514376	HCM	heart:	n/a
29	chr21:28516018-28516068	HNPCEpiC	eye:	n/a
30	chr21:28516138-28516188	HMEC	breast:	n/a
31	chr21:28516018-28516068	HRCEpiC	kidney:	n/a
32	chr21:28516018-28516068	BJ	skin:	n/a
33	chr21:28515863-28515913	NHDF-neo	bronchial:	n/a
34	chr21:28514326-28514376	PANC-1	pancreas:	n/a
35	chr21:28514326-28514376	HepG2	liver:	n/a
36	chr21:28516138-28516188	NHDF-neo	bronchial:	n/a
37	chr21:28516138-28516188	CMK	blood:	n/a
38	chr21:28516018-28516068	HIPEpiC	eye:	n/a
39	chr21:28514326-28514376	NHDF-neo	bronchial:	n/a
40	chr21:28516018-28516068	IMR90	lung:	fetal
41	chr21:28515863-28515913	SK-N-SH_RA	brain:	n/a
42	chr21:28515863-28515913	HUVEC	blood vessel:	n/a
43	chr21:28515863-28515913	HEK293	kidney:	embryo
44	chr21:28516138-28516188	NH-A	brain:	n/a
45	chr21:28514326-28514376	HL-60	blood:	n/a
46	chr21:28516138-28516188	HPAEpiC	pulmonary alveolar:	n/a
47	chr21:28516018-28516068	HepG2	liver:	n/a
48	chr21:28516018-28516068	HUVEC	blood vessel:	n/a
49	chr21:28515863-28515913	PANC-1	pancreas:	n/a
50	chr21:28515863-28515913	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:28516145..28516651-chr3:49395305..49395818,2	HCT-116	colon:
2	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:
3	chr1:144533690..144534509-chr21:28474126..28474626,2	Hela-S3	cervix:
4	chr21:28449732..28451857-chr21:28452054..28455156,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTS5-3	chr21:28520074-28520181	ucscGeneNc_uc002yml_2
2	lnc-ADAMTS5-3	chr21:28511368-28511537	NONHSAT081562
3	lnc-ADAMTS5-3	chr21:28522552-28522857	NONHSAT081559
4	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081561
5	lnc-ADAMTS5-3	chr21:28457792-28457907	ucscGeneNc_uc002yml_2
6	lnc-ADAMTS5-3	chr21:28506430-28506538	NONHSAT081559
7	lnc-ADAMTS5-3	chr21:28464268-28464333	NONHSAT081561
8	lnc-ADAMTS5-3	chr21:28520074-28520181	NONHSAT081559
9	lnc-ADAMTS5-3	chr21:28506496-28506541	NONHSAT081562
10	lnc-ADAMTS5-3	chr21:28457792-28457907	NONHSAT081559
11	lnc-ADAMTS5-3	chr21:28522552-28522857	ucscGeneNc_uc002yml_2
12	lnc-ADAMTS5-3	chr21:28461416-28461509	NONHSAT081561
13	lnc-ADAMTS5-3	chr21:28522552-28522670	NONHSAT081562
14	lnc-ADAMTS5-3	chr21:28520074-28520181	NONHSAT081562
15	lnc-ADAMTS5-3	chr21:28464268-28464333	NONHSAT081559
16	lnc-ADAMTS5-3	chr21:28464268-28464333	ucscGeneNc_uc002yml_2
17	lnc-ADAMTS5-3	chr21:28506430-28506538	ucscGeneNc_uc002yml_2

Variant related genes	Relation type
GPX1P2	TF binding region
GPX1P2	CpG island
ENSG00000233276	chromatin interactions
ENSG00000201699	chromatin interactions

Extended variants
information (count: 2828 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:2828 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552230193	chr21:28443316-28443317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs536175451	chr21:28443332-28443333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117613801	chr21:28443339-28443340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571747603	chr21:28443348-28443349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540583348	chr21:28443363-28443364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557433196	chr21:28443370-28443371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368336384	chr21:28443401-28443402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs577287544	chr21:28443409-28443410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs372576285	chr21:28443426-28443427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563530833	chr21:28443445-28443446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529054937	chr21:28443455-28443456	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542950770	chr21:28443539-28443540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73363590	chr21:28443589-28443590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs147586161	chr21:28443601-28443602	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142198453	chr21:28443755-28443756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs142152117	chr21:28443756-28443757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115976641	chr21:28443766-28443767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs9284446	chr21:28443774-28443775	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs117288104	chr21:28443780-28443781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79746816	chr21:28443792-28443793	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140361627	chr21:28443887-28443888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs117710355	chr21:28443941-28443942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs73363594	chr21:28443975-28443976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs557293598	chr21:28443977-28443978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs191506553	chr21:28444015-28444016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs537175121	chr21:28444029-28444030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556775837	chr21:28444053-28444054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs568250526	chr21:28444068-28444069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572123216	chr21:28444089-28444090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138839564	chr21:28444121-28444122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs542798648	chr21:28444125-28444126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2830658	chr21:28444165-28444166	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs370610704	chr21:28444174-28444175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs372809585	chr21:28444205-28444206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376418341	chr21:28444268-28444269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs564501296	chr21:28444274-28444275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181618207	chr21:28444291-28444292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs17659214	chr21:28444295-28444296	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs563590582	chr21:28444414-28444415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185444924	chr21:28444460-28444461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76684698	chr21:28444462-28444463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs566045408	chr21:28444471-28444472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190153028	chr21:28444528-28444529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551635025	chr21:28444530-28444531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539522187	chr21:28444562-28444563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557773892	chr21:28444563-28444564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62222953	chr21:28444565-28444566	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs557024711	chr21:28444566-28444567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150168233	chr21:28444592-28444593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs112528124	chr21:28444610-28444611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
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 myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell lymphomas	19863542	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
Acute lymphoblastic leukemia	21980252	CNVD
Metanephric adenoma	20802469	CNVD
Neuroblastoma	18923191	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
Hodgkin''s lymphoma	18641027	CNVD
Alzheimer''s disease	18923514	CNVD
Alzheimer''s disease	20877625	CNVD
Follicular lymphoma	20505157	CNVD
Alzheimer''s disease	21956041	CNVD
Cancer	21183584	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Invasive pancreatic ductal carcinoma	16982739	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
Acute myeloid leukemia	21251322	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Ovarian cancer	22174824	CNVD
Renal cell carcinoma	18765545	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD

Chromatin state (count:278 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28441000-28446800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:28441000-28449800	Weak transcription	Ovary	ovary
3	chr21:28443000-28443600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr21:28443000-28443800	Enhancers	Fetal Heart	heart
5	chr21:28443000-28443800	Enhancers	Rectal Smooth Muscle	rectum
6	chr21:28443000-28444000	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr21:28443200-28444000	Enhancers	Fetal Kidney	kidney
8	chr21:28443200-28444000	Enhancers	Stomach Smooth Muscle	stomach
9	chr21:28443200-28444200	Enhancers	Colon Smooth Muscle	Colon
10	chr21:28443200-28444200	Enhancers	Fetal Stomach	stomach
11	chr21:28446800-28447200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr21:28447200-28447400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr21:28447400-28467200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr21:28448600-28448800	Enhancers	Osteobl	bone
15	chr21:28448600-28449200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr21:28448800-28450000	Weak transcription	Osteobl	bone
17	chr21:28449200-28449600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28449200-28450000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr21:28449600-28450000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr21:28449800-28450200	Enhancers	Adipose Nuclei	Adipose
21	chr21:28449800-28450200	Enhancers	Ovary	ovary
22	chr21:28449800-28450800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr21:28450000-28450200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr21:28450000-28450200	Enhancers	Osteobl	bone
25	chr21:28450200-28450400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr21:28450200-28450600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr21:28450800-28452000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:28451000-28451800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr21:28451400-28451800	Enhancers	Fetal Muscle Leg	muscle
30	chr21:28452000-28452400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr21:28454200-28455000	Enhancers	Brain Cingulate Gyrus	brain
32	chr21:28454200-28455200	Enhancers	Brain Substantia Nigra	brain
33	chr21:28454400-28455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr21:28454600-28455000	Enhancers	Brain Anterior Caudate	brain
35	chr21:28454800-28455200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr21:28455200-28456400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr21:28456600-28456800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr21:28457800-28458200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr21:28457800-28458200	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr21:28457800-28458800	Enhancers	Fetal Kidney	kidney
41	chr21:28457800-28458800	Enhancers	Stomach Smooth Muscle	stomach
42	chr21:28458200-28462200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr21:28458600-28459000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr21:28458800-28477600	Weak transcription	Fetal Kidney	kidney
45	chr21:28460400-28460800	Enhancers	Fetal Heart	heart
46	chr21:28460400-28463000	Enhancers	Adipose Nuclei	Adipose
47	chr21:28460800-28462400	Weak transcription	Fetal Heart	heart
48	chr21:28461400-28462400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr21:28462200-28462400	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr21:28462400-28463000	Enhancers	Fetal Heart	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links