Variant report

Variant	nsv1051344
Chromosome Location	chr11:46188818-46306447
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3303)
CpG islands
(count:2505)
Chromatin interactive
region (count:293)
LncRNA
region (count:23)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3303 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:46269211-46269472	K562	blood:	n/a	n/a
2	ARID3A	chr11:46263935-46264104	K562	blood:	n/a	n/a
3	ARID3A	chr11:46228856-46229097	K562	blood:	n/a	n/a
4	ARID3A	chr11:46257662-46259026	K562	blood:	n/a	n/a
5	ARID3A	chr11:46192421-46192699	HepG2	liver:	n/a	n/a
6	ARID3A	chr11:46275775-46275943	HepG2	liver:	n/a	n/a
7	ARID3A	chr11:46260638-46261132	K562	blood:	n/a	n/a
8	ARID3A	chr11:46295496-46295610	K562	blood:	n/a	n/a
9	ARID3A	chr11:46295488-46295688	HepG2	liver:	n/a	n/a
10	ARID3A	chr11:46232059-46232099	K562	blood:	n/a	n/a
11	ARID3A	chr11:46264604-46265485	K562	blood:	n/a	chr11:46265114-46265130
12	ARID3A	chr11:46274059-46274437	HepG2	liver:	n/a	n/a
13	ARID3A	chr11:46270189-46271592	K562	blood:	n/a	n/a
14	ARID3A	chr11:46272000-46272273	K562	blood:	n/a	n/a
15	ARID3A	chr11:46269177-46269434	HepG2	liver:	n/a	n/a
16	ARID3A	chr11:46298926-46299299	K562	blood:	n/a	n/a
17	ARID3A	chr11:46278116-46278448	K562	blood:	n/a	n/a
18	ARID3A	chr11:46264625-46265255	HepG2	liver:	n/a	chr11:46265114-46265130
19	ARID3A	chr11:46219909-46220096	HepG2	liver:	n/a	n/a
20	ATF1	chr11:46258668-46259031	K562	blood:	n/a	n/a
21	ATF1	chr11:46270922-46271620	K562	blood:	n/a	n/a
22	ATF1	chr11:46295881-46296122	K562	blood:	n/a	n/a
23	ATF1	chr11:46264625-46265118	K562	blood:	n/a	n/a
24	ATF1	chr11:46269105-46269513	K562	blood:	n/a	n/a
25	ATF1	chr11:46271997-46272332	K562	blood:	n/a	n/a
26	ATF1	chr11:46228866-46229203	K562	blood:	n/a	n/a
27	ATF1	chr11:46278195-46278319	K562	blood:	n/a	n/a
28	ATF2	chr11:46269098-46269627	H1-hESC	embryonic stem cell:	n/a	n/a
29	ATF2	chr11:46288123-46288566	GM12878	blood:	n/a	n/a
30	ATF2	chr11:46288076-46288730	GM12878	blood:	n/a	n/a
31	ATF2	chr11:46223635-46224035	H1-hESC	embryonic stem cell:	n/a	n/a
32	ATF2	chr11:46269090-46269512	H1-hESC	embryonic stem cell:	n/a	n/a
33	ATF2	chr11:46260594-46261126	H1-hESC	embryonic stem cell:	n/a	n/a
34	ATF2	chr11:46260442-46261304	H1-hESC	embryonic stem cell:	n/a	n/a
35	ATF2	chr11:46260647-46261121	GM12878	blood:	n/a	n/a
36	ATF2	chr11:46264460-46265338	H1-hESC	embryonic stem cell:	n/a	n/a
37	ATF2	chr11:46264441-46265126	H1-hESC	embryonic stem cell:	n/a	n/a
38	ATF3	chr11:46271991-46272423	K562	blood:	n/a	n/a
39	ATF3	chr11:46264747-46265034	K562	blood:	n/a	n/a
40	ATF3	chr11:46270123-46270649	K562	blood:	n/a	n/a
41	ATF3	chr11:46258679-46259029	K562	blood:	n/a	n/a
42	ATF3	chr11:46262454-46262777	K562	blood:	n/a	n/a
43	ATF3	chr11:46264613-46265076	H1-hESC	embryonic stem cell:	n/a	chr11:46265061-46265070
44	ATF3	chr11:46259561-46259910	K562	blood:	n/a	chr11:46259863-46259878
45	ATF3	chr11:46258587-46259141	K562	blood:	n/a	n/a
46	ATF3	chr11:46264793-46265129	HepG2	liver:	n/a	chr11:46265061-46265070
47	ATF3	chr11:46264571-46265141	K562	blood:	n/a	chr11:46265061-46265070
48	BACH1	chr11:46234536-46234538	K562	blood:	n/a	n/a
49	BACH1	chr11:46292384-46292662	H1-hESC	embryonic stem cell:	n/a	n/a
50	BACH1	chr11:46300132-46300181	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2505 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46299204-46299254	NT2-D1	testis:	n/a
2	chr11:46299900-46299950	HRE	kidney:	n/a
3	chr11:46299268-46299318	HMEC	breast:	n/a
4	chr11:46259561-46259611	AG10803	skin:	n/a
5	chr11:46299204-46299254	NT2-D1	testis:	n/a
6	chr11:46299900-46299950	HRE	kidney:	n/a
7	chr11:46299268-46299318	HMEC	breast:	n/a
8	chr11:46259561-46259611	AG10803	skin:	n/a
9	chr11:46298891-46298941	SKMC	muscle:	n/a
10	chr11:46259470-46259520	HEEpiC	esophagus:	n/a
11	chr11:46258039-46258089	HCPEpiC	choroid plexus:	n/a
12	chr11:46299204-46299254	HAEpiC	amniotic membrane:	n/a
13	chr11:46299168-46299218	CMK	blood:	n/a
14	chr11:46264818-46264868	NB4	blood:	n/a
15	chr11:46265134-46265184	HCPEpiC	choroid plexus:	n/a
16	chr11:46260204-46260254	SAEC	small airway:	n/a
17	chr11:46260756-46260806	MCF10A-Er-Src	breast:	n/a
18	chr11:46303104-46303154	NB4	blood:	n/a
19	chr11:46260618-46260668	IMR90	lung:	fetal
20	chr11:46261352-46261402	GM06990	blood:	n/a
21	chr11:46265393-46265443	GM12878	blood:	n/a
22	chr11:46260204-46260254	BJ	skin:	n/a
23	chr11:46293567-46293617	NH-A	brain:	n/a
24	chr11:46298946-46298996	LNCaP	prostate:	n/a
25	chr11:46260412-46260462	NB4	blood:	n/a
26	chr11:46298891-46298941	HCM	heart:	n/a
27	chr11:46265260-46265310	Caco-2	colon:	n/a
28	chr11:46260849-46260899	HepG2	liver:	n/a
29	chr11:46260412-46260462	HEK293	kidney:	embryo
30	chr11:46303104-46303154	Caco-2	colon:	n/a
31	chr11:46301410-46301460	NT2-D1	testis:	n/a
32	chr11:46260849-46260899	MCF-7	breast:	n/a
33	chr11:46264544-46264594	HRCEpiC	kidney:	n/a
34	chr11:46298946-46298996	GM12892	blood:	n/a
35	chr11:46260412-46260462	HRCEpiC	kidney:	n/a
36	chr11:46299550-46299600	T-47D	breast:	n/a
37	chr11:46260234-46260284	HCF	heart:	n/a
38	chr11:46260618-46260668	MCF-7	breast:	n/a
39	chr11:46264544-46264594	AG10803	skin:	n/a
40	chr11:46260045-46260095	SKMC	muscle:	n/a
41	chr11:46265393-46265443	AG09319	gingival:	n/a
42	chr11:46293567-46293617	SK-N-SH	brain:	n/a
43	chr11:46261208-46261258	GM19239	blood:	n/a
44	chr11:46264544-46264594	PANC-1	pancreas:	n/a
45	chr11:46298946-46298996	Caco-2	colon:	n/a
46	chr11:46305726-46305776	HIPEpiC	eye:	n/a
47	chr11:46260045-46260095	HCPEpiC	choroid plexus:	n/a
48	chr11:46265076-46265126	HepG2	liver:	n/a
49	chr11:46260412-46260462	A549	lung:	n/a
50	chr11:46301410-46301460	H1-hESC	embryonic stem cell:	embryo

(count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Distal block	Cell Line	Cell type
1	chr11:45939300..45941780-chr11:46259462..46260979,2	K562	blood:
2	chr11:46259280..46259781-chr14:31494628..31495547,2	Hela-S3	cervix:
3	chr1:17231333..17231967-chr11:46264658..46265339,2	NB4	blood:
4	chr11:46235668..46238517-chr11:46241557..46245176,4	K562	blood:
5	chr11:46289483..46292043-chr11:46292788..46295416,3	K562	blood:
6	chr11:46203646..46205829-chr11:46224777..46226347,2	MCF-7	breast:
7	chr11:46261574..46264285-chr11:46284540..46287123,3	K562	blood:
8	chr11:46281538..46283443-chr11:46316171..46318482,2	K562	blood:
9	chr11:46240075..46247012-chr11:46255086..46262989,16	K562	blood:
10	chr11:46260034..46261360-chr11:46336245..46337600,10	MCF-7	breast:
11	chr11:46191150..46193434-chr11:46195184..46197537,2	MCF-7	breast:
12	chr11:46243156..46245098-chr11:46255575..46258822,3	MCF-7	breast:
13	chr11:46277264..46279524-chr11:46281628..46283798,2	MCF-7	breast:
14	chr11:46148570..46149540-chr11:46260403..46260958,3	MCF-7	breast:
15	chr11:46263034..46268818-chr11:46367251..46371688,6	K562	blood:
16	chr11:46262681..46266586-chr11:46271092..46274649,4	MCF-7	breast:
17	chr11:46239861..46241772-chr11:46260396..46261899,2	K562	blood:
18	chr11:46268799..46269363-chr11:46336414..46337360,6	MCF-7	breast:
19	chr11:46260902..46266382-chr11:46328727..46335057,8	K562	blood:
20	chr11:46142984..46144774-chr11:46189496..46191053,2	MCF-7	breast:
21	chr11:46184935..46186587-chr11:46186597..46189530,2	K562	blood:
22	chr11:46278578..46280348-chr11:46294456..46296213,2	K562	blood:
23	chr11:46225452..46228070-chr11:46231767..46234609,2	K562	blood:
24	chr11:46142521..46144729-chr11:46264687..46266930,3	MCF-7	breast:
25	chr11:46286385..46288724-chr11:46297253..46299530,2	MCF-7	breast:
26	chr11:46132224..46135042-chr11:46263015..46266575,4	K562	blood:
27	chr11:46219983..46222359-chr11:46223075..46225363,2	K562	blood:
28	chr11:46256070..46259331-chr11:46275478..46278178,3	K562	blood:
29	chr11:46203794..46206561-chr11:46217960..46220507,2	MCF-7	breast:
30	chr11:46242391..46244126-chr11:46262413..46265513,3	K562	blood:
31	chr11:46214901..46216444-chr11:46258709..46261481,2	K562	blood:
32	chr11:46257536..46260038-chr11:46298629..46301325,2	K562	blood:
33	chr11:46302896..46305879-chr11:46311547..46314983,4	MCF-7	breast:
34	chr11:46139740..46148810-chr11:46253862..46264263,27	K562	blood:
35	chr11:46254488..46256449-chr11:46407890..46409508,2	K562	blood:
36	chr11:46263199..46264892-chr11:46372073..46373594,2	MCF-7	breast:
37	chr11:46268196..46269979-chr11:46296716..46298280,2	MCF-7	breast:
38	chr11:46260057..46260933-chr11:65272315..65273199,2	Hela-S3	cervix:
39	chr11:46259592..46260183-chr18:20513247..20513772,2	Hela-S3	cervix:
40	chr11:46277054..46280998-chr11:46282710..46286800,5	K562	blood:
41	chr11:46226505..46229256-chr11:46259218..46261819,2	K562	blood:
42	chr11:46287117..46289600-chr11:46291560..46294063,4	K562	blood:
43	chr11:46258602..46259157-chr6:26270982..26271725,2	Hela-S3	cervix:
44	chr11:46262370..46265982-chr11:46295406..46297667,3	MCF-7	breast:
45	chr11:46260567..46262219-chr11:46367373..46369497,2	MCF-7	breast:
46	chr11:46274159..46277827-chr11:46316055..46319131,3	MCF-7	breast:
47	chr11:46131944..46133865-chr11:46302576..46304186,2	K562	blood:
48	chr11:46300583..46302153-chr11:46302372..46304323,2	MCF-7	breast:
49	chr11:46277054..46280998-chr11:46282710..46286800,5	K562	blood:
50	chr11:46270657..46272184-chr11:46336005..46338411,2	MCF-7	breast:

(count:23 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CREB3L1-2	chr11:46196136-46196241	ENSG00000255314
2	lnc-CREB3L1-2	chr11:46196136-46196241	NONHSAT021158
3	lnc-CHRM4-1	chr11:46277871-46278092	XLOC_009437
4	lnc-CREB3L1-1	chr11:46259933-46260056	ENSG00000254639
5	lnc-PHF21A-2	chr11:46197708-46197815	l_473_chr11:46191964-46197815_testes
6	lnc-PHF21A-1	chr11:46235493-46235775	NONHSAT021161
7	lnc-CREB3L1-2	chr11:46193494-46193575	NONHSAT021158
8	lnc-CHRM4-1	chr11:46292116-46292165	XLOC_009437
9	lnc-PHF21A-2	chr11:46191965-46192351	l_473_chr11:46191964-46197815_testes
10	lnc-CHRM4-1	chr11:46277906-46278092	ENSG00000255007.1
11	lnc-PHF21A-1	chr11:46237278-46237409	ENSG00000255269
12	lnc-PHF21A-1	chr11:46237278-46237442	NONHSAT021161
13	lnc-PHF21A-2	chr11:46193850-46194018	l_473_chr11:46191964-46197815_testes
14	lnc-CHRM4-1	chr11:46295932-46296098	ENSG00000255007.1
15	lnc-PHF21A-1	chr11:46237278-46237442	XLOC_009436
16	lnc-CREB3L1-2	chr11:46193498-46193575	ENSG00000255314
17	lnc-PHF21A-1	chr11:46235372-46235775	ENSG00000255269
18	lnc-CREB3L1-2	chr11:46197611-46198671	NONHSAT021158
19	lnc-CREB3L1-1	chr11:46260290-46260818	ENSG00000254639
20	lnc-PHF21A-1	chr11:46235389-46235775	XLOC_009436
21	lnc-CREB3L1-2	chr11:46197900-46198656	ENSG00000255314
22	lnc-PHF21A-1	chr11:46242187-46242861	NONHSAT021161
23	lnc-PHF21A-1	chr11:46241132-46241181	XLOC_009436

No data

Variant related genes	Relation type
ENSG00000255314	TF binding region
CREB3L1	TF binding region
ENSG00000255007	TF binding region
ENSG00000255269	TF binding region
ENSG00000254639	TF binding region
ENSG00000255314	CpG island
CREB3L1	CpG island
ENSG00000255007	CpG island
ENSG00000255269	CpG island
ENSG00000254639	CpG island
ENSG00000099860	chromatin interactions
ENSG00000264548	chromatin interactions
ENSG00000145687	chromatin interactions
ENSG00000180720	chromatin interactions
ENSG00000263539	chromatin interactions
ENSG00000108106	chromatin interactions
ENSG00000100478	chromatin interactions
ENSG00000134308	chromatin interactions
ENSG00000244968	chromatin interactions
ENSG00000100804	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000100906	chromatin interactions
ENSG00000102317	chromatin interactions
ENSG00000256018	chromatin interactions
ENSG00000197429	chromatin interactions
ENSG00000149091	chromatin interactions
ENSG00000141664	chromatin interactions
ENSG00000066427	chromatin interactions
ENSG00000255269	chromatin interactions
ENSG00000175216	chromatin interactions
ENSG00000247675	chromatin interactions
ENSG00000264817	chromatin interactions
ENSG00000264102	chromatin interactions
ENSG00000254653	chromatin interactions
ENSG00000151881	chromatin interactions
ENSG00000135365	chromatin interactions
ENSG00000157613	chromatin interactions
ENSG00000213639	chromatin interactions
ENSG00000113594	chromatin interactions
ENSG00000255314	chromatin interactions
ENSG00000103194	chromatin interactions
ENSG00000121680	chromatin interactions
ENSG00000204620	chromatin interactions
ENSG00000163565	chromatin interactions
ENSG00000101773	chromatin interactions
ENSG00000150459	chromatin interactions
ENSG00000152359	chromatin interactions
ENSG00000110492	chromatin interactions
ENSG00000255007	chromatin interactions
ENSG00000265943	chromatin interactions
ENSG00000235823	chromatin interactions
ENSG00000254639	chromatin interactions
ENSG00000249492	chromatin interactions
ENSG00000196792	chromatin interactions
ENSG00000135972	chromatin interactions
CSNK1D	miRNA target sites

Extended variants
information (count: 3450 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:3450 , 50 per page) page: 1 2 3 4 5 6 7 ... 69

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs559665036	chr11:46188829-46188830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs76047455	chr11:46188844-46188845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551719811	chr11:46188848-46188849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543885436	chr11:46188944-46188945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570505299	chr11:46188971-46188972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539132453	chr11:46189036-46189037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs71451635	chr11:46189059-46189060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549916698	chr11:46189060-46189061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530271812	chr11:46189087-46189088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563674059	chr11:46189090-46189091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375370773	chr11:46189113-46189114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs397748218	chr11:46189125-46189126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs569628617	chr11:46189163-46189164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374960628	chr11:46189167-46189168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs180891279	chr11:46189210-46189211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs535448003	chr11:46189235-46189236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148613560	chr11:46189237-46189238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572291398	chr11:46189297-46189298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72908015	chr11:46189443-46189444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs548354659	chr11:46189505-46189506	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs533319943	chr11:46189516-46189517	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs141481246	chr11:46189552-46189553	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577791744	chr11:46189624-46189625	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568267907	chr11:46189633-46189634	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs61884124	chr11:46189659-46189660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs183485727	chr11:46189762-46189763	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs563442881	chr11:46189800-46189801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs370560372	chr11:46189808-46189809	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527547421	chr11:46189809-46189810	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs559600676	chr11:46189828-46189829	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs547733831	chr11:46189831-46189832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs552073503	chr11:46189929-46189930	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs376066063	chr11:46189934-46189935	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs55910258	chr11:46189953-46189954	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs570403829	chr11:46189955-46189956	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs71474104	chr11:46189971-46189972	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs531143573	chr11:46189993-46189994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs112511101	chr11:46190035-46190036	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs569815234	chr11:46190039-46190040	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs529105765	chr11:46190043-46190044	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs538333067	chr11:46190105-46190106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs369846020	chr11:46190106-46190107	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs182066614	chr11:46190136-46190137	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs549033860	chr11:46190137-46190138	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs565945323	chr11:46190150-46190151	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs7936425	chr11:46190213-46190214	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs558049501	chr11:46190284-46190285	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs187112670	chr11:46190388-46190389	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569697815	chr11:46190400-46190401	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs191497120	chr11:46190407-46190408	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Parathyroid adenoma	22454399	CNVD
Medulloblastoma	21979893	CNVD
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Medulloblastoma	16783165	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
small cell lung cancer	20016488	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Myelofibrosis	22110671	CNVD
Melanoma	18172304	CNVD
Intracranial ependymoma	16609018	CNVD
Myxofibrosarcoma	16751306	CNVD
Potocki-Shaffer syndrome	22470819	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Breast cancer	20409316	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Melanoma	17363583	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2764 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46184600-46192200	Weak transcription	Pancreas	Pancrea
2	chr11:46192000-46193200	Enhancers	Liver	Liver
3	chr11:46192200-46192400	Enhancers	Pancreas	Pancrea
4	chr11:46194800-46195200	Enhancers	Rectal Mucosa Donor 29	rectum
5	chr11:46196200-46196400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:46196400-46197800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:46197200-46198400	Enhancers	NHEK	skin
8	chr11:46197400-46198400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:46197600-46198000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:46197800-46198400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:46202000-46202600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr11:46202600-46202800	Bivalent Enhancer	Osteobl	bone
13	chr11:46203600-46203800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
14	chr11:46204800-46206000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
15	chr11:46204800-46206200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:46204800-46206200	Enhancers	NH-A	brain
17	chr11:46205000-46206200	Enhancers	HMEC	breast
18	chr11:46205000-46206200	Enhancers	Osteobl	bone
19	chr11:46205000-46206400	Enhancers	NHEK	skin
20	chr11:46205200-46205800	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:46205200-46206200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:46205200-46206200	Enhancers	HSMM	muscle
23	chr11:46205400-46206200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr11:46215000-46215600	Enhancers	HUVEC	blood vessel
25	chr11:46219400-46219800	Bivalent/Poised TSS	Lung	lung
26	chr11:46220600-46221400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr11:46221000-46221200	Enhancers	Spleen	Spleen
28	chr11:46221000-46221400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr11:46221200-46222600	Weak transcription	Spleen	Spleen
30	chr11:46222000-46223000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:46222200-46222600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:46222200-46222600	Enhancers	NHDF-Ad	bronchial
33	chr11:46222200-46222800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr11:46222200-46222800	Enhancers	HSMM	muscle
35	chr11:46222200-46223000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
36	chr11:46222200-46223000	Enhancers	NHEK	skin
37	chr11:46222200-46223000	Bivalent Enhancer	Osteobl	bone
38	chr11:46222200-46223200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr11:46222400-46222600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:46222400-46222800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr11:46222400-46223000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr11:46222400-46223200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:46222600-46222800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:46222600-46222800	Flanking Active TSS	NHDF-Ad	bronchial
45	chr11:46222600-46223000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr11:46222600-46223000	Enhancers	Spleen	Spleen
47	chr11:46222800-46223000	Bivalent Enhancer	NHDF-Ad	bronchial
48	chr11:46222800-46224000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:46223000-46224000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr11:46223000-46231400	Weak transcription	Spleen	Spleen

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