Variant report

Variant	nsv521125
Chromosome Location	chr11:73359236-73378142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:735)
CpG islands
(count:732)
Chromatin interactive
region (count:39)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:735 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:73373922-73373934	K562	blood:	n/a	n/a
2	ARID3A	chr11:73365566-73366002	HepG2	liver:	n/a	n/a
3	ARID3A	chr11:73372087-73372230	K562	blood:	n/a	n/a
4	ATF2	chr11:73372032-73372553	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr11:73371766-73372622	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr11:73371941-73372386	A549	lung:	n/a	n/a
7	BACH1	chr11:73372235-73372513	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:73373972-73374026	K562	blood:	n/a	n/a
9	BCL3	chr11:73371714-73372837	A549	lung:	n/a	chr11:73372007-73372016
10	BCL3	chr11:73371905-73372530	A549	lung:	n/a	chr11:73372007-73372016
11	BCLAF1	chr11:73371899-73372363	GM12878	blood:	n/a	chr11:73372007-73372016
12	BHLHE40	chr11:73365575-73365980	HepG2	liver:	n/a	n/a
13	BHLHE40	chr11:73372011-73372627	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:73371968-73372674	K562	blood:	n/a	n/a
15	BHLHE40	chr11:73361464-73361521	K562	blood:	n/a	n/a
16	BHLHE40	chr11:73364366-73364620	HepG2	liver:	n/a	n/a
17	BRCA1	chr11:73367593-73367701	GM12878	blood:	n/a	n/a
18	BRCA1	chr11:73372019-73372285	H1-hESC	embryonic stem cell:	n/a	n/a
19	BRCA1	chr11:73372021-73372186	Hela-S3	cervix:	n/a	n/a
20	BRCA1	chr11:73371889-73372163	HepG2	liver:	n/a	n/a
21	CBX3	chr11:73371973-73372550	K562	blood:	n/a	n/a
22	CEBPB	chr11:73365710-73366002	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:73370188-73370492	IMR90	lung:	n/a	chr11:73370314-73370327 chr11:73370323-73370334
24	CEBPB	chr11:73375670-73375869	HepG2	liver:	n/a	n/a
25	CEBPB	chr11:73375704-73375738	Hela-S3	cervix:	n/a	n/a
26	CEBPB	chr11:73370204-73370405	Hela-S3	cervix:	n/a	chr11:73370314-73370327 chr11:73370323-73370334
27	CEBPB	chr11:73372012-73372249	K562	blood:	n/a	n/a
28	CEBPB	chr11:73371988-73372265	H1-hESC	embryonic stem cell:	n/a	n/a
29	CEBPB	chr11:73372012-73372259	Hela-S3	cervix:	n/a	n/a
30	CEBPB	chr11:73370215-73370482	HepG2	liver:	n/a	chr11:73370314-73370327 chr11:73370323-73370334
31	CEBPB	chr11:73370299-73370491	A549	lung:	n/a	chr11:73370314-73370327 chr11:73370323-73370334
32	CEBPB	chr11:73363395-73363633	HepG2	liver:	n/a	n/a
33	CEBPB	chr11:73368913-73369017	HepG2	liver:	n/a	chr11:73368985-73368998
34	CEBPB	chr11:73370267-73370425	K562	blood:	n/a	chr11:73370314-73370327 chr11:73370323-73370334
35	CEBPD	chr11:73359674-73360104	HepG2	liver:	n/a	n/a
36	CEBPZ	chr11:73373712-73373812	HepG2	liver:	n/a	n/a
37	CHD1	chr11:73372068-73372320	GM12878	blood:	n/a	n/a
38	CHD1	chr11:73372246-73372369	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD2	chr11:73363315-73363635	HepG2	liver:	n/a	n/a
40	CHD2	chr11:73359738-73360006	HepG2	liver:	n/a	n/a
41	CHD2	chr11:73364044-73364182	HepG2	liver:	n/a	n/a
42	CHD2	chr11:73371997-73372613	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr11:73371973-73372296	GM12878	blood:	n/a	n/a
44	CHD2	chr11:73371988-73372201	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr11:73372032-73372195	K562	blood:	n/a	n/a
46	CHD2	chr11:73365645-73366056	HepG2	liver:	n/a	n/a
47	CTCF	chr11:73371914-73372398	K562	blood:	n/a	chr11:73372233-73372242 chr11:73372152-73372170 chr11:73372158-73372167 chr11:73372154-73372167 chr11:73372155-73372165 chr11:73372153-73372169 chr11:73372147-73372168
48	CTCF	chr11:73376140-73376290	GM12866	blood:	n/a	n/a
49	CTCF	chr11:73372440-73372590	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr11:73372547-73372685	GM13977	blood:	n/a	n/a

(count:732 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:73372278-73372328	PrEC	prostate:	n/a
2	chr11:73372479-73372529	LNCaP	prostate:	n/a
3	chr11:73359662-73359712	NB4	blood:	n/a
4	chr11:73371940-73371990	HPAEpiC	pulmonary alveolar:	n/a
5	chr11:73371801-73371851	Caco-2	colon:	n/a
6	chr11:73371753-73371803	HCT-116	colon:	n/a
7	chr11:73371801-73371851	HUVEC	blood vessel:	n/a
8	chr11:73359662-73359712	K562	blood:	n/a
9	chr11:73372676-73372726	GM12891	blood:	n/a
10	chr11:73359662-73359712	MCF-7	breast:	n/a
11	chr11:73359962-73360012	GM12892	blood:	n/a
12	chr11:73372479-73372529	ovcar-3	ovarian:	n/a
13	chr11:73367968-73368018	SK-N-SH	brain:	n/a
14	chr11:73359962-73360012	PrEC	prostate:	n/a
15	chr11:73359962-73360012	MCF-7	breast:	n/a
16	chr11:73362898-73362948	GM12891	blood:	n/a
17	chr11:73372479-73372529	HPAEpiC	pulmonary alveolar:	n/a
18	chr11:73372676-73372726	K562	blood:	n/a
19	chr11:73359987-73360037	HL-60	blood:	n/a
20	chr11:73372278-73372328	AG04449	skin:	fetal
21	chr11:73359962-73360012	ovcar-3	ovarian:	n/a
22	chr11:73371940-73371990	AoSMC	blood vessel:	n/a
23	chr11:73367968-73368018	NHDF-neo	bronchial:	n/a
24	chr11:73371753-73371803	HNPCEpiC	eye:	n/a
25	chr11:73367968-73368018	NH-A	brain:	n/a
26	chr11:73372479-73372529	NHDF-neo	bronchial:	n/a
27	chr11:73372278-73372328	HEK293	kidney:	embryo
28	chr11:73372676-73372726	U87	brain:	n/a
29	chr11:73371940-73371990	GM12878	blood:	n/a
30	chr11:73371940-73371990	SK-N-SH_RA	brain:	n/a
31	chr11:73375804-73375854	AG04449	skin:	fetal
32	chr11:73359987-73360037	GM12891	blood:	n/a
33	chr11:73371753-73371803	GM06990	blood:	n/a
34	chr11:73359662-73359712	SK-N-SH_RA	brain:	n/a
35	chr11:73359962-73360012	H1-hESC	embryonic stem cell:	embryo
36	chr11:73359987-73360037	GM06990	blood:	n/a
37	chr11:73371753-73371803	NT2-D1	testis:	n/a
38	chr11:73372479-73372529	HCT-116	colon:	n/a
39	chr11:73367968-73368018	HPAEpiC	pulmonary alveolar:	n/a
40	chr11:73375804-73375854	LNCaP	prostate:	n/a
41	chr11:73367968-73368018	HRE	kidney:	n/a
42	chr11:73359987-73360037	HRCEpiC	kidney:	n/a
43	chr11:73371940-73371990	HMEC	breast:	n/a
44	chr11:73359987-73360037	HCF	heart:	n/a
45	chr11:73359987-73360037	SK-N-SH_RA	brain:	n/a
46	chr11:73359962-73360012	HEEpiC	esophagus:	n/a
47	chr11:73372278-73372328	NHBE	bronchial:	n/a
48	chr11:73359987-73360037	BE2_C	brain:	n/a
49	chr11:73371753-73371803	BJ	skin:	n/a
50	chr11:73372479-73372529	AG04449	skin:	fetal

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:73189399..73190555-chr11:73372006..73372626,3	MCF-7	breast:
2	chr11:73350129..73352943-chr11:73358005..73360556,2	MCF-7	breast:
3	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
4	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
5	chr11:73307468..73310175-chr11:73367058..73369059,2	MCF-7	breast:
6	chr11:73339161..73339931-chr11:73371565..73372121,2	K562	blood:
7	chr11:73189539..73190279-chr11:73371425..73372555,3	MCF-7	breast:
8	chr11:73370621..73373362-chr11:73374892..73376891,2	K562	blood:
9	chr11:73336984..73337517-chr11:73369515..73370436,2	MCF-7	breast:
10	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
11	chr11:73371809..73372966-chr11:73642075..73643041,5	MCF-7	breast:
12	chr11:73061985..73063168-chr11:73371666..73372611,6	K562	blood:
13	chr11:73308527..73310864-chr11:73370877..73373752,3	MCF-7	breast:
14	chr11:73113521..73114482-chr11:73371404..73372583,4	MCF-7	breast:
15	chr11:73360291..73363163-chr11:73370092..73372185,2	MCF-7	breast:
16	chr11:73371858..73374878-chr11:73470388..73473197,3	MCF-7	breast:
17	chr11:73371264..73374255-chr11:73470720..73472543,3	MCF-7	breast:
18	chr11:73361371..73362170-chr11:73372091..73372630,2	K562	blood:
19	chr11:73114553..73115793-chr11:73371630..73372835,7	MCF-7	breast:
20	chr11:73071278..73072181-chr11:73371770..73372619,2	MCF-7	breast:
21	chr11:73114698..73115543-chr11:73371649..73372416,6	K562	blood:
22	chr11:73018239..73018964-chr11:73371705..73372640,2	MCF-7	breast:
23	chr11:73017996..73018959-chr11:73371785..73372637,2	MCF-7	breast:
24	chr11:73112653..73117037-chr11:73375086..73378284,4	MCF-7	breast:
25	chr11:73006156..73007134-chr11:73371683..73372187,2	K562	blood:
26	chr11:73371041..73372952-chr11:73376507..73379068,3	MCF-7	breast:
27	chr11:73361371..73362170-chr11:73372091..73372630,2	K562	blood:
28	chr11:73061949..73062569-chr11:73371667..73372987,3	MCF-7	breast:
29	chr11:73371739..73372578-chr11:73642460..73643367,2	MCF-7	breast:
30	chr11:73336448..73337518-chr11:73371686..73372936,6	K562	blood:
31	chr11:73371085..73373574-chr11:73587519..73589689,2	MCF-7	breast:
32	chr11:73240973..73241953-chr11:73371670..73372602,3	K562	blood:
33	chr11:73114875..73115740-chr11:73371666..73372740,6	MCF-7	breast:
34	chr11:73368578..73371014-chr11:73371602..73373872,2	MCF-7	breast:
35	chr11:73366864..73370325-chr11:73372581..73375566,3	K562	blood:
36	chr11:73336503..73337418-chr11:73371731..73372656,5	MCF-7	breast:
37	chr11:73366404..73368809-chr11:73373660..73375819,2	MCF-7	breast:
38	chr11:73113711..73116580-chr11:73369932..73372135,2	MCF-7	breast:
39	chr11:73189484..73190492-chr11:73371669..73372682,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL48-4	chr11:73373556-73373860	NONHSAT022848
2	lnc-MRPL48-4	chr11:73373398-73373467	NONHSAT022848

No data

Variant related genes	Relation type
PLEKHB1	TF binding region
ENSG00000252732	TF binding region
PLEKHB1	CpG island
ENSG00000252732	CpG island
ENSG00000256448	chromatin interactions
ENSG00000256034	chromatin interactions
ENSG00000181924	chromatin interactions
ENSG00000252732	chromatin interactions
ENSG00000270323	chromatin interactions
ENSG00000054965	chromatin interactions
ENSG00000175575	chromatin interactions
ENSG00000175582	chromatin interactions
ENSG00000021300	chromatin interactions

Extended variants
information (count: 739 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1784499	chr11:73359236-73359237	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs182287723	chr11:73359257-73359258	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs530450576	chr11:73359270-73359271	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs367668572	chr11:73359290-73359291	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs550534015	chr11:73359312-73359313	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs12277650	chr11:73359330-73359331	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548104855	chr11:73359427-73359428	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs529786724	chr11:73359450-73359451	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs116998574	chr11:73359488-73359489	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148280297	chr11:73359581-73359582	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs538825424	chr11:73359582-73359583	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs187420731	chr11:73359583-73359584	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs569113508	chr11:73359607-73359608	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2512634	chr11:73359727-73359728	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs141371201	chr11:73359742-73359743	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs113579209	chr11:73359771-73359772	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs118101918	chr11:73359785-73359786	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs2509065	chr11:73359802-73359803	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs150366990	chr11:73359869-73359870	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs577064718	chr11:73359882-73359883	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs35809621	chr11:73359911-73359912	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs113878239	chr11:73359930-73359931	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs545963775	chr11:73359962-73359963	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs574882465	chr11:73359970-73359971	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs563072852	chr11:73359985-73359986	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs576641014	chr11:73359994-73359995	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs537111663	chr11:73360009-73360010	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374531350	chr11:73360022-73360023	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs367691921	chr11:73360029-73360030	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs372832415	chr11:73360040-73360041	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs138039493	chr11:73360041-73360042	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs368334880	chr11:73360071-73360072	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs529821522	chr11:73360106-73360107	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs546756133	chr11:73360113-73360114	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs372276436	chr11:73360114-73360115	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560284419	chr11:73360167-73360168	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs573249106	chr11:73360174-73360175	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs372412174	chr11:73360194-73360195	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191792118	chr11:73360197-73360198	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552336105	chr11:73360223-73360224	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs117474375	chr11:73360248-73360249	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs538116092	chr11:73360256-73360257	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs674995	chr11:73360262-73360263	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs568075574	chr11:73360287-73360288	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs639139	chr11:73360290-73360291	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs553896050	chr11:73360308-73360309	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs576909313	chr11:73360321-73360322	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs142513754	chr11:73360331-73360332	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs556686963	chr11:73360401-73360402	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs544845741	chr11:73360417-73360418	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chordoma	21602918	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	16616336	CNVD
Urothelial cell carcinoma	18451213	CNVD
Leukoplakia	24403051	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17142309	CNVD
Lung cancer	21203850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:850 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73356200-73360800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr11:73356800-73360600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:73357200-73364000	Weak transcription	Liver	Liver
4	chr11:73357800-73359600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:73357800-73364200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:73358000-73359400	Enhancers	Fetal Thymus	thymus
7	chr11:73358000-73359600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:73358200-73359400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr11:73358200-73361000	Flanking Active TSS	HepG2	liver
10	chr11:73358400-73359800	Active TSS	Brain Anterior Caudate	brain
11	chr11:73358400-73359800	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr11:73358600-73359400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:73358600-73359400	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:73358600-73359600	Active TSS	Brain Hippocampus Middle	brain
15	chr11:73358600-73360000	Active TSS	Brain Substantia Nigra	brain
16	chr11:73358600-73360200	Active TSS	Brain Cingulate Gyrus	brain
17	chr11:73358600-73360400	Active TSS	Brain Angular Gyrus	brain
18	chr11:73358600-73363200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:73358800-73359400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr11:73358800-73360600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:73359000-73359400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
22	chr11:73359000-73359400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:73359000-73359400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:73359000-73359400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:73359000-73359400	Enhancers	Lung	lung
26	chr11:73359000-73359400	Enhancers	Stomach Mucosa	stomach
27	chr11:73359000-73360200	Enhancers	Placenta	Placenta
28	chr11:73359000-73360600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:73359000-73361000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:73359000-73363200	Weak transcription	Right Atrium	heart
31	chr11:73359000-73371600	Weak transcription	Fetal Brain Female	brain
32	chr11:73359000-73371600	Weak transcription	Right Ventricle	heart
33	chr11:73359200-73359400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr11:73359200-73359400	Enhancers	Pancreas	Pancrea
35	chr11:73359200-73359400	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr11:73359200-73359400	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:73359200-73359600	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr11:73359200-73359600	Enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:73359200-73359800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
40	chr11:73359200-73359800	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr11:73359200-73359800	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr11:73359200-73359800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr11:73359200-73359800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:73359200-73359800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:73359200-73359800	Enhancers	Primary T helper cells PMA-I stimulated	--
46	chr11:73359200-73360000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr11:73359200-73360200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
48	chr11:73359200-73360200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr11:73359200-73360200	Enhancers	Primary B cells from peripheral blood	blood
50	chr11:73359200-73360400	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell

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