Variant report

Variant	esv3421449
Chromosome Location	chr11:64780801-64783349
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	ARID3A	chr11:64780988-64781549	K562	blood:	n/a	n/a
2	ATF1	chr11:64780954-64781753	K562	blood:	n/a	n/a
3	ATF2	chr11:64780819-64782039	GM12878	blood:	n/a	n/a
4	ATF2	chr11:64780888-64781545	GM12878	blood:	n/a	n/a
5	ATF2	chr11:64780842-64781513	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:64780886-64781861	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr11:64781586-64781954	H1-hESC	embryonic stem cell:	n/a	n/a
8	ATF2	chr11:64781592-64781876	GM12878	blood:	n/a	n/a
9	ATF3	chr11:64780919-64781763	H1-hESC	embryonic stem cell:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
10	ATF3	chr11:64781231-64781924	K562	blood:	n/a	chr11:64781530-64781550 chr11:64781491-64781500 chr11:64781855-64781866 chr11:64781855-64781866 chr11:64781857-64781868 chr11:64781856-64781876
11	ATF3	chr11:64781247-64781746	H1-hESC	embryonic stem cell:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
12	ATF3	chr11:64781347-64781713	HepG2	liver:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
13	ATF3	chr11:64781362-64781751	K562	blood:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
14	ATF3	chr11:64781219-64781850	HepG2	liver:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
15	ATF3	chr11:64781424-64781643	GM12878	blood:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
16	ATF3	chr11:64780985-64781774	GM12878	blood:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
17	ATF3	chr11:64780866-64781695	A549	lung:	n/a	chr11:64781530-64781550 chr11:64781491-64781500
18	BACH1	chr11:64781207-64781532	K562	blood:	n/a	n/a
19	BACH1	chr11:64780694-64780840	H1-hESC	embryonic stem cell:	n/a	n/a
20	BACH1	chr11:64781098-64782490	H1-hESC	embryonic stem cell:	n/a	n/a
21	BCL11A	chr11:64781065-64781485	GM12878	blood:	n/a	n/a
22	BCL3	chr11:64782091-64782460	A549	lung:	n/a	n/a
23	BCL3	chr11:64780771-64781906	A549	lung:	n/a	chr11:64781791-64781804
24	BCLAF1	chr11:64781424-64782026	K562	blood:	n/a	chr11:64781964-64781977 chr11:64781791-64781804 chr11:64781958-64781971
25	BCLAF1	chr11:64780888-64782354	GM12878	blood:	n/a	chr11:64781964-64781977 chr11:64781791-64781804 chr11:64782034-64782047 chr11:64781958-64781971 chr11:64782058-64782071
26	BHLHE40	chr11:64781189-64781831	A549	lung:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
27	BHLHE40	chr11:64781302-64781715	HepG2	liver:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
28	BHLHE40	chr11:64780745-64782423	K562	blood:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
29	BHLHE40	chr11:64781365-64781710	HepG2	liver:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
30	BHLHE40	chr11:64780957-64782297	HepG2	liver:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
31	BHLHE40	chr11:64780761-64782398	GM12878	blood:	n/a	chr11:64781541-64781550 chr11:64781541-64781550 chr11:64781809-64781825 chr11:64781516-64781532 chr11:64781540-64781549 chr11:64781539-64781552
32	BRCA1	chr11:64781033-64781972	Hela-S3	cervix:	n/a	n/a
33	BRCA1	chr11:64781098-64781253	HepG2	liver:	n/a	n/a
34	BRCA1	chr11:64781346-64781529	GM12878	blood:	n/a	n/a
35	BRCA1	chr11:64781549-64781987	HepG2	liver:	n/a	n/a
36	BRCA1	chr11:64781279-64781538	H1-hESC	embryonic stem cell:	n/a	n/a
37	CBX3	chr11:64781641-64781901	K562	blood:	n/a	n/a
38	CBX3	chr11:64780768-64782686	K562	blood:	n/a	n/a
39	CCNT2	chr11:64781101-64782290	K562	blood:	n/a	chr11:64782110-64782119 chr11:64782003-64782023
40	CEBPB	chr11:64780829-64781254	IMR90	lung:	n/a	n/a
41	CEBPB	chr11:64780925-64781251	K562	blood:	n/a	n/a
42	CEBPB	chr11:64781167-64781839	K562	blood:	n/a	n/a
43	CEBPB	chr11:64780861-64781981	Hela-S3	cervix:	n/a	n/a
44	CEBPD	chr11:64780962-64781336	HepG2	liver:	n/a	n/a
45	CEBPD	chr11:64782023-64782260	HepG2	liver:	n/a	n/a
46	CHD1	chr11:64781875-64781994	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD1	chr11:64780984-64781442	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD1	chr11:64780851-64782241	GM12878	blood:	n/a	chr11:64782082-64782092
49	CHD2	chr11:64781012-64781992	GM12878	blood:	n/a	n/a
50	CHD2	chr11:64780966-64782201	Hela-S3	cervix:	n/a	chr11:64782082-64782092

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64781672-64781722	SAEC	small airway:	n/a
2	chr11:64782294-64782344	NHDF-neo	bronchial:	n/a
3	chr11:64781672-64781722	HAEpiC	amniotic membrane:	n/a
4	chr11:64782294-64782344	GM12891	blood:	n/a
5	chr11:64780896-64780946	ECC-1	luminal epithelium:	n/a
6	chr11:64781672-64781722	AG09309	skin:	n/a
7	chr11:64780896-64780946	HCT-116	colon:	n/a
8	chr11:64781672-64781722	HIPEpiC	eye:	n/a
9	chr11:64782746-64782796	GM12891	blood:	n/a
10	chr11:64780896-64780946	HCF	heart:	n/a
11	chr11:64781842-64781892	HPAEpiC	pulmonary alveolar:	n/a
12	chr11:64781299-64781349	NB4	blood:	n/a
13	chr11:64780896-64780946	AG04450	lung:	fetal
14	chr11:64782746-64782796	AG10803	skin:	n/a
15	chr11:64781842-64781892	HUVEC	blood vessel:	n/a
16	chr11:64781672-64781722	H1-hESC	embryonic stem cell:	embryo
17	chr11:64781842-64781892	T-47D	breast:	n/a
18	chr11:64781299-64781349	AoSMC	blood vessel:	n/a
19	chr11:64781475-64781525	HIPEpiC	eye:	n/a
20	chr11:64781842-64781892	GM12878	blood:	n/a
21	chr11:64781299-64781349	AG04450	lung:	fetal
22	chr11:64782746-64782796	GM19239	blood:	n/a
23	chr11:64782746-64782796	HMEC	breast:	n/a
24	chr11:64780896-64780946	HIPEpiC	eye:	n/a
25	chr11:64782746-64782796	Jurkat	blood:	n/a
26	chr11:64782294-64782344	BJ	skin:	n/a
27	chr11:64781299-64781349	HAEpiC	amniotic membrane:	n/a
28	chr11:64782294-64782344	HAEpiC	amniotic membrane:	n/a
29	chr11:64781672-64781722	K562	blood:	n/a
30	chr11:64781299-64781349	PANC-1	pancreas:	n/a
31	chr11:64781672-64781722	HL-60	blood:	n/a
32	chr11:64781672-64781722	SK-N-MC	brain:	n/a
33	chr11:64782294-64782344	T-47D	breast:	n/a
34	chr11:64781842-64781892	HCM	heart:	n/a
35	chr11:64781475-64781525	ProgFib	skin:	n/a
36	chr11:64781842-64781892	GM19239	blood:	n/a
37	chr11:64782294-64782344	Jurkat	blood:	n/a
38	chr11:64781672-64781722	GM19239	blood:	n/a
39	chr11:64782294-64782344	ProgFib	skin:	n/a
40	chr11:64781475-64781525	HAEpiC	amniotic membrane:	n/a
41	chr11:64782294-64782344	SKMC	muscle:	n/a
42	chr11:64780896-64780946	SK-N-SH	brain:	n/a
43	chr11:64781299-64781349	HepG2	liver:	n/a
44	chr11:64781299-64781349	SK-N-MC	brain:	n/a
45	chr11:64781672-64781722	HCM	heart:	n/a
46	chr11:64781299-64781349	ECC-1	luminal epithelium:	n/a
47	chr11:64780896-64780946	HMEC	breast:	n/a
48	chr11:64781672-64781722	T-47D	breast:	n/a
49	chr11:64781842-64781892	HRPEpiC	eye:	n/a
50	chr11:64782294-64782344	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64779606..64783503-chr11:64793292..64796940,8	MCF-7	breast:
2	chr11:64691872..64694652-chr11:64781595..64784560,2	K562	blood:
3	chr11:64781559..64786098-chr11:64888152..64890441,5	MCF-7	breast:
4	chr11:64681819..64686102-chr11:64779905..64782957,5	MCF-7	breast:
5	chr11:64779557..64781251-chr11:65271267..65273112,2	K562	blood:
6	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
7	chr11:64781406..64781925-chr11:64794675..64795369,2	K562	blood:
8	chr11:64781031..64781807-chr19:1269220..1269874,2	HCT-116	colon:
9	chr11:64778534..64781013-chr11:64781668..64784168,3	MCF-7	breast:
10	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
11	chr11:64780338..64782626-chr11:64806994..64809935,3	K562	blood:
12	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
13	chr11:64728080..64729823-chr11:64778498..64780871,2	MCF-7	breast:
14	chr11:64780075..64781062-chr17:58603335..58603844,2	MCF-7	breast:
15	chr11:64778507..64787901-chr11:64877920..64890097,31	K562	blood:
16	chr11:64783090..64786003-chr11:64844320..64846596,3	MCF-7	breast:
17	chr11:64782849..64784408-chr11:64786421..64789258,2	MCF-7	breast:
18	chr11:64663591..64666697-chr11:64779404..64783379,5	MCF-7	breast:
19	chr11:64766736..64768997-chr11:64779317..64781330,2	K562	blood:
20	chr11:64779929..64781451-chr11:64813261..64815030,2	MCF-7	breast:
21	chr11:64683021..64685981-chr11:64781625..64784265,4	MCF-7	breast:
22	chr11:64781025..64781584-chr11:64845425..64846204,2	MCF-7	breast:
23	chr11:64779895..64782091-chr11:64887695..64889902,3	K562	blood:
24	chr11:64779689..64782801-chr11:64896069..64898995,3	MCF-7	breast:
25	chr11:64780038..64784183-chr11:64845056..64847666,6	K562	blood:
26	chr11:64772580..64786543-chr11:64875055..64887722,37	MCF-7	breast:
27	chr11:64780520..64784503-chr11:64834796..64838390,5	MCF-7	breast:
28	chr11:64779047..64780768-chr11:64783130..64785775,3	MCF-7	breast:
29	chr11:64781661..64782563-chr9:132815713..132816653,2	Hela-S3	cervix:
30	chr11:64778393..64787449-chr11:64877655..64886980,25	K562	blood:
31	chr11:64780781..64781742-chr11:64884944..64885528,2	K562	blood:
32	chr11:64781815..64785733-chr11:64830700..64833952,3	MCF-7	breast:
33	chr11:64781269..64783468-chr11:64850067..64853147,4	MCF-7	breast:
34	chr11:64781215..64782090-chr11:64863739..64864839,3	K562	blood:
35	chr11:64781196..64781882-chr11:64794849..64795643,2	MCF-7	breast:
36	chr11:64779913..64786139-chr11:64862018..64866625,10	K562	blood:
37	chr11:64684657..64687217-chr11:64779880..64782895,3	K562	blood:
38	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
39	chr11:64780551..64781718-chr11:64879936..64880686,4	K562	blood:
40	chr11:64764464..64766186-chr11:64782207..64784388,2	K562	blood:
41	chr11:64781519..64783137-chr11:66622872..66625514,2	MCF-7	breast:
42	chr11:64689263..64691666-chr11:64782887..64784487,2	K562	blood:
43	chr11:64780421..64782168-chr11:64953277..64956161,2	MCF-7	breast:
44	chr11:64611421..64614176-chr11:64782989..64786019,3	MCF-7	breast:
45	chr11:64781063..64782155-chr11:64884745..64885349,3	MCF-7	breast:
46	chr11:64663470..64664241-chr11:64780763..64781434,2	K562	blood:
47	chr11:64780179..64786029-chr11:64807067..64810211,7	MCF-7	breast:
48	chr11:64780841..64783611-chr11:64936959..64938535,2	K562	blood:
49	chr11:64761070..64763113-chr11:64782531..64784584,2	K562	blood:
50	chr11:64642873..64648975-chr11:64779425..64783727,9	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273003	TF binding region
ARL2	TF binding region
ENSG00000273003	CpG island
ARL2	CpG island
ENSG00000229719	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000099622	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000068971	chromatin interactions
ENSG00000168062	chromatin interactions
ENSG00000148358	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000255173	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000266123	chromatin interactions
ENSG00000199879	chromatin interactions
ENSG00000110025	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000254614	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000213465	chromatin interactions
ENSG00000168060	chromatin interactions
ENSG00000133895	chromatin interactions
ENSG00000171219	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000110046	chromatin interactions
ENSG00000173621	chromatin interactions
ENSG00000168070	chromatin interactions
ENSG00000259349	chromatin interactions
ENSG00000270775	chromatin interactions
ENSG00000204710	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000062725	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148760973	chr11:64780823-64780824	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
2	rs555148327	chr11:64780836-64780837	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
3	rs574658176	chr11:64780837-64780838	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
4	rs182754844	chr11:64780844-64780845	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
5	rs374801015	chr11:64780899-64780900	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
6	rs6591868	chr11:64780912-64780913	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs142416042	chr11:64780914-64780915	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
8	rs80299515	chr11:64780930-64780931	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
9	rs112967118	chr11:64781040-64781041	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
10	rs528388120	chr11:64781054-64781055	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
11	rs372483354	chr11:64781067-64781068	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
12	rs140611901	chr11:64781084-64781085	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs561883656	chr11:64781100-64781101	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
14	rs58044871	chr11:64781115-64781116	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
15	rs187720914	chr11:64781122-64781123	Active TSS Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
16	rs570199022	chr11:64781244-64781245	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
17	rs78852382	chr11:64781312-64781313	Active TSS Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs368381614	chr11:64781373-64781374	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs193245768	chr11:64781382-64781383	Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
20	rs567248938	chr11:64781424-64781425	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
21	rs145706074	chr11:64781434-64781435	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
22	rs373234095	chr11:64781449-64781450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs550533269	chr11:64781457-64781458	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
24	rs376174797	chr11:64781460-64781461	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
25	rs371780654	chr11:64781465-64781466	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
26	rs576916846	chr11:64781472-64781473	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
27	rs545530857	chr11:64781483-64781484	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs552940678	chr11:64781510-64781511	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs572718601	chr11:64781526-64781527	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs542131784	chr11:64781532-64781533	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
31	rs561992738	chr11:64781618-64781619	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
32	rs369937985	chr11:64781629-64781630	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
33	rs112166431	chr11:64781670-64781671	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
34	rs184873330	chr11:64781723-64781724	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
35	rs374015070	chr11:64781734-64781735	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
36	rs113298333	chr11:64781745-64781746	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
37	rs544460695	chr11:64781770-64781771	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
38	rs564272094	chr11:64781780-64781781	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
39	rs375243218	chr11:64781787-64781788	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
40	rs200855685	chr11:64781789-64781790	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
41	rs2280109	chr11:64781811-64781812	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
42	rs552349140	chr11:64781866-64781867	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
43	rs369802068	chr11:64781867-64781868	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
44	rs58717149	chr11:64781891-64781892	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	26 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs187217070	chr11:64781904-64781905	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
46	rs549553924	chr11:64781907-64781908	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
47	rs530550233	chr11:64781996-64781997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
48	rs34874122	chr11:64782063-64782064	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
49	rs370714948	chr11:64782185-64782186	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
50	rs367928984	chr11:64782187-64782188	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	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
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:553 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64764800-64781200	Weak transcription	Right Atrium	heart
2	chr11:64775600-64781000	Weak transcription	Esophagus	oesophagus
3	chr11:64779600-64781000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr11:64780200-64781000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr11:64780400-64781000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:64780400-64781000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:64780400-64781000	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr11:64780400-64781000	Enhancers	Primary T cells fromperipheralblood	blood
9	chr11:64780400-64781000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:64780400-64781000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:64780400-64781000	Enhancers	Placenta	Placenta
12	chr11:64780400-64781000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:64780400-64781000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:64780400-64781000	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr11:64780400-64781000	Enhancers	Right Ventricle	heart
16	chr11:64780400-64781000	Flanking Active TSS	GM12878-XiMat	blood
17	chr11:64780400-64781200	Flanking Active TSS	Dnd41	blood
18	chr11:64780400-64781400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr11:64780400-64781600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:64780400-64782200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:64780600-64781000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
22	chr11:64780600-64781000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:64780600-64781000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:64780600-64781000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:64780600-64781000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:64780600-64781000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:64780600-64781000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr11:64780600-64781000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr11:64780600-64781000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr11:64780600-64781000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:64780600-64781000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:64780600-64781000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:64780600-64781000	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr11:64780600-64781000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr11:64780600-64781000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr11:64780600-64781000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:64780600-64781000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr11:64780600-64781000	Enhancers	Fetal Brain Female	brain
39	chr11:64780600-64781000	Flanking Active TSS	Fetal Kidney	kidney
40	chr11:64780600-64781000	Flanking Active TSS	Fetal Lung	lung
41	chr11:64780600-64781000	Enhancers	Placenta Amnion	Placenta Amnion
42	chr11:64780600-64781000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr11:64780600-64781000	Enhancers	Small Intestine	intestine
44	chr11:64780600-64781000	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr11:64780600-64781000	Flanking Active TSS	A549	lung
46	chr11:64780600-64781000	Flanking Active TSS	Hela-S3	cervix
47	chr11:64780600-64781000	Flanking Active TSS	HepG2	liver
48	chr11:64780600-64781000	Flanking Active TSS	HMEC	breast
49	chr11:64780600-64781000	Flanking Active TSS	NHDF-Ad	bronchial
50	chr11:64780600-64781000	Flanking Active TSS	NHLF	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links