Variant report

Variant	esv3419864
Chromosome Location	chr11:67031976-67036274
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	chr11:67035070-67035137	HepG2	liver:	n/a	n/a
2	ARID3A	chr11:67033664-67033733	K562	blood:	n/a	n/a
3	ATF2	chr11:67034748-67036345	GM12878	blood:	n/a	n/a
4	ATF2	chr11:67035674-67036283	GM12878	blood:	n/a	n/a
5	BACH1	chr11:67033666-67033894	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr11:67035648-67036183	GM12878	blood:	n/a	n/a
7	BATF	chr11:67035702-67036155	GM12878	blood:	n/a	n/a
8	BCL11A	chr11:67035662-67036172	GM12878	blood:	n/a	n/a
9	BCL3	chr11:67035678-67036247	GM12878	blood:	n/a	n/a
10	BCLAF1	chr11:67034970-67036567	GM12878	blood:	n/a	n/a
11	BCLAF1	chr11:67033550-67033905	GM12878	blood:	n/a	n/a
12	BCLAF1	chr11:67035562-67036310	GM12878	blood:	n/a	n/a
13	BCLAF1	chr11:67033584-67033866	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:67033517-67033863	K562	blood:	n/a	n/a
15	BHLHE40	chr11:67033588-67033897	GM12878	blood:	n/a	n/a
16	BHLHE40	chr11:67035560-67036111	GM12878	blood:	n/a	n/a
17	BHLHE40	chr11:67033660-67033903	HepG2	liver:	n/a	n/a
18	BRCA1	chr11:67033819-67033845	Hela-S3	cervix:	n/a	n/a
19	CBX3	chr11:67033504-67033874	K562	blood:	n/a	n/a
20	CCNT2	chr11:67033639-67034763	K562	blood:	n/a	chr11:67034686-67034695
21	CEBPB	chr11:67033703-67033856	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr11:67035056-67035236	HepG2	liver:	n/a	n/a
23	CEBPB	chr11:67035457-67036313	GM12878	blood:	n/a	n/a
24	CHD1	chr11:67034638-67036458	GM12878	blood:	n/a	n/a
25	CHD1	chr11:67034201-67034400	GM12878	blood:	n/a	n/a
26	CHD2	chr11:67034112-67034293	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr11:67033644-67033899	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr11:67035057-67035143	K562	blood:	n/a	n/a
29	CHD2	chr11:67034785-67036182	GM12878	blood:	n/a	n/a
30	CHD2	chr11:67033696-67033720	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr11:67033585-67033822	GM12878	blood:	n/a	n/a
32	CREB1	chr11:67034005-67034363	A549	lung:	n/a	n/a
33	CREB1	chr11:67033593-67033905	A549	lung:	n/a	n/a
34	CTCF	chr11:67033643-67033906	Lung_OC	lung:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
35	CTCF	chr11:67033740-67033890	HVMF	connective:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
36	CTCF	chr11:67033700-67033850	HEK293	kidney:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
37	CTCF	chr11:67034760-67034910	SAEC	small airway:	n/a	chr11:67034855-67034868 chr11:67034859-67034868
38	CTCF	chr11:67033720-67033870	HPAF	blood vessel:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
39	CTCF	chr11:67033575-67033927	MCF-7	breast:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
40	CTCF	chr11:67033661-67033919	Gliobla	brain:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
41	CTCF	chr11:67033576-67033956	H1-hESC	embryonic stem cell:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
42	CTCF	chr11:67033740-67033890	HFF	foreskin:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
43	CTCF	chr11:67033740-67033890	HA-sp	spinal cord:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
44	CTCF	chr11:67033662-67033940	GM19240	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
45	CTCF	chr11:67034760-67034910	BE2_C	brain:	n/a	chr11:67034855-67034868 chr11:67034859-67034868
46	CTCF	chr11:67033320-67033470	GM12867	blood:	n/a	n/a
47	CTCF	chr11:67036160-67036310	NB4	blood:	n/a	n/a
48	CTCF	chr11:67033740-67033890	MCF-7	breast:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
49	CTCF	chr11:67033720-67033870	GM12878	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820
50	CTCF	chr11:67033645-67033928	K562	blood:	n/a	chr11:67033806-67033819 chr11:67033805-67033826 chr11:67033803-67033821 chr11:67033806-67033815 chr11:67033808-67033818 chr11:67033804-67033820

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67032472-67032522	NH-A	brain:	n/a
2	chr11:67034251-67034301	H1-hESC	embryonic stem cell:	embryo
3	chr11:67034249-67034299	HCF	heart:	n/a
4	chr11:67034251-67034301	HEK293	kidney:	embryo
5	chr11:67034540-67034590	HUVEC	blood vessel:	n/a
6	chr11:67033704-67033754	HCF	heart:	n/a
7	chr11:67034540-67034590	PANC-1	pancreas:	n/a
8	chr11:67034540-67034590	K562	blood:	n/a
9	chr11:67033704-67033754	BE2_C	brain:	n/a
10	chr11:67033704-67033754	HCPEpiC	choroid plexus:	n/a
11	chr11:67034540-67034590	SAEC	small airway:	n/a
12	chr11:67033799-67033849	HAEpiC	amniotic membrane:	n/a
13	chr11:67033799-67033849	AoSMC	blood vessel:	n/a
14	chr11:67033704-67033754	PANC-1	pancreas:	n/a
15	chr11:67033799-67033849	NHDF-neo	bronchial:	n/a
16	chr11:67033704-67033754	SK-N-SH	brain:	n/a
17	chr11:67032472-67032522	HEK293	kidney:	embryo
18	chr11:67034540-67034590	HRE	kidney:	n/a
19	chr11:67034249-67034299	CMK	blood:	n/a
20	chr11:67034249-67034299	HAEpiC	amniotic membrane:	n/a
21	chr11:67033801-67033851	HRE	kidney:	n/a
22	chr11:67034249-67034299	HRCEpiC	kidney:	n/a
23	chr11:67034249-67034299	BE2_C	brain:	n/a
24	chr11:67034251-67034301	HL-60	blood:	n/a
25	chr11:67033801-67033851	HAEpiC	amniotic membrane:	n/a
26	chr11:67035965-67036015	H1-hESC	embryonic stem cell:	embryo
27	chr11:67032472-67032522	PANC-1	pancreas:	n/a
28	chr11:67033676-67033726	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:67033801-67033851	U87	brain:	n/a
30	chr11:67033799-67033849	LNCaP	prostate:	n/a
31	chr11:67033704-67033754	NHDF-neo	bronchial:	n/a
32	chr11:67034249-67034299	AG09319	gingival:	n/a
33	chr11:67034249-67034299	HMEC	breast:	n/a
34	chr11:67034540-67034590	T-47D	breast:	n/a
35	chr11:67033594-67033644	HRPEpiC	eye:	n/a
36	chr11:67035965-67036015	SAEC	small airway:	n/a
37	chr11:67034540-67034590	Caco-2	colon:	n/a
38	chr11:67034249-67034299	HEK293	kidney:	embryo
39	chr11:67033704-67033754	HEEpiC	esophagus:	n/a
40	chr11:67032472-67032522	HL-60	blood:	n/a
41	chr11:67034249-67034299	A549	lung:	n/a
42	chr11:67032472-67032522	ovcar-3	ovarian:	n/a
43	chr11:67033676-67033726	PANC-1	pancreas:	n/a
44	chr11:67033676-67033726	GM06990	blood:	n/a
45	chr11:67033799-67033849	SK-N-SH	brain:	n/a
46	chr11:67033801-67033851	AG10803	skin:	n/a
47	chr11:67032472-67032522	HIPEpiC	eye:	n/a
48	chr11:67033801-67033851	T-47D	breast:	n/a
49	chr11:67033801-67033851	GM19239	blood:	n/a
50	chr11:67035965-67036015	SK-N-SH	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:67033435..67034183-chr11:67056208..67056959,2	K562	blood:
2	chr11:67035911..67036506-chr16:70557376..70558236,2	NB4	blood:
3	chr11:67032700..67034613-chr11:67124238..67125805,2	K562	blood:
4	chr11:67033933..67038277-chr11:67140224..67143646,5	MCF-7	breast:
5	chr11:67034204..67036832-chr11:67149310..67150898,2	MCF-7	breast:
6	chr11:67029982..67035321-chr11:67120482..67125805,6	K562	blood:
7	chr11:67033990..67034733-chr11:67084414..67085207,2	Hela-S3	cervix:
8	chr11:66820570..66825355-chr11:67030338..67035766,7	MCF-7	breast:
9	chr11:67032309..67036659-chr11:67119174..67122793,5	MCF-7	breast:
10	chr11:66833065..66835047-chr11:67034731..67036548,2	MCF-7	breast:
11	chr11:67034337..67035118-chr11:67055575..67056376,2	NB4	blood:
12	chr11:67031846..67035344-chr11:67139453..67142374,3	K562	blood:
13	chr11:66885158..66886682-chr11:67030764..67032501,2	K562	blood:
14	chr11:67030856..67037366-chr11:67138319..67144892,13	MCF-7	breast:
15	chr11:67030751..67032989-chr11:67210893..67212752,2	K562	blood:
16	chr11:67030115..67032131-chr11:67117040..67120376,3	K562	blood:
17	chr11:67031980..67036845-chr11:67115804..67121447,10	MCF-7	breast:
18	chr11:67033658..67035636-chr11:67159466..67162456,3	MCF-7	breast:
19	chr11:67035184..67037391-chr11:67122258..67124075,2	MCF-7	breast:
20	chr11:62608653..62609624-chr11:67035797..67036475,2	NB4	blood:
21	chr11:67033837..67034854-chr11:67056054..67056870,3	MCF-7	breast:

Variant related genes	Relation type
ADRBK1	TF binding region
ADRBK1	CpG island
ENSG00000189091	chromatin interactions
ENSG00000133316	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000175482	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000172725	chromatin interactions
ENSG00000103051	chromatin interactions
ENSG00000256514	chromatin interactions
ENSG00000175505	chromatin interactions
ENSG00000172613	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572788108	chr11:67031978-67031979	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs61758493	chr11:67031985-67031986	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs564639244	chr11:67032029-67032030	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs568067176	chr11:67032042-67032043	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs61758494	chr11:67032048-67032049	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs544016747	chr11:67032068-67032069	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs562611716	chr11:67032074-67032075	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs61758495	chr11:67032083-67032084	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs529978607	chr11:67032132-67032133	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs541793330	chr11:67032184-67032185	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs560530025	chr11:67032232-67032233	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs117141363	chr11:67032241-67032242	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs552658136	chr11:67032269-67032270	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs58064412	chr11:67032353-67032354	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs576874940	chr11:67032385-67032386	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs531908981	chr11:67032386-67032387	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs550374094	chr11:67032413-67032414	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs556999385	chr11:67032472-67032473	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs568591182	chr11:67032481-67032482	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs188238664	chr11:67032603-67032604	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs554212111	chr11:67032633-67032634	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs376444329	chr11:67032668-67032669	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs566414357	chr11:67032701-67032702	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs533550554	chr11:67032708-67032709	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs558195293	chr11:67032719-67032720	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs569236890	chr11:67032817-67032818	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs368287518	chr11:67032839-67032840	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs576550938	chr11:67032847-67032848	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs543930072	chr11:67032883-67032884	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs556306921	chr11:67032893-67032894	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs574586402	chr11:67032895-67032896	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs372495456	chr11:67032940-67032941	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs149608729	chr11:67032950-67032951	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs61758496	chr11:67032962-67032963	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs61758497	chr11:67032984-67032985	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs35164461	chr11:67033014-67033015	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs61758498	chr11:67033019-67033020	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs12286610	chr11:67033024-67033025	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs61758499	chr11:67033025-67033026	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs546237516	chr11:67033026-67033027	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs61758500	chr11:67033029-67033030	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs10791901	chr11:67033033-67033034	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs569550429	chr11:67033039-67033040	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs61758501	chr11:67033040-67033041	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs61758502	chr11:67033041-67033042	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs61758503	chr11:67033057-67033058	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11605263	chr11:67033076-67033077	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs180672683	chr11:67033117-67033118	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs12286664	chr11:67033149-67033150	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs368540104	chr11:67033169-67033170	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Schizophrenia	21346763	CNVD
lymphocytic leukemia	21291569	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:696 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67024400-67034000	Weak transcription	Small Intestine	intestine
2	chr11:67028600-67032200	Enhancers	Primary hematopoietic stem cells	blood
3	chr11:67028600-67033600	Enhancers	HMEC	breast
4	chr11:67028800-67034000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr11:67028800-67034000	Enhancers	Esophagus	oesophagus
6	chr11:67029200-67033600	Weak transcription	Aorta	Aorta
7	chr11:67029200-67033600	Weak transcription	Psoas Muscle	Psoas
8	chr11:67029400-67033400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:67029400-67033400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:67029600-67033200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr11:67029800-67033600	Enhancers	Fetal Thymus	thymus
12	chr11:67029800-67034000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr11:67030200-67032200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:67030200-67033200	Weak transcription	Ovary	ovary
15	chr11:67030400-67033200	Weak transcription	Fetal Brain Female	brain
16	chr11:67030400-67033400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr11:67030600-67032800	Weak transcription	Fetal Brain Male	brain
18	chr11:67030600-67033200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr11:67030600-67033400	Weak transcription	Brain Germinal Matrix	brain
20	chr11:67030600-67033400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:67030600-67033400	Weak transcription	Fetal Kidney	kidney
22	chr11:67030600-67033600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:67030600-67034000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:67030800-67033000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:67030800-67033200	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr11:67030800-67033200	Weak transcription	Brain Anterior Caudate	brain
27	chr11:67030800-67033200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:67030800-67033200	Weak transcription	Fetal Heart	heart
29	chr11:67030800-67033200	Weak transcription	Fetal Intestine Large	intestine
30	chr11:67030800-67033200	Weak transcription	Fetal Lung	lung
31	chr11:67030800-67033200	Weak transcription	Fetal Stomach	stomach
32	chr11:67030800-67033200	Weak transcription	Right Ventricle	heart
33	chr11:67030800-67033200	Weak transcription	Stomach Mucosa	stomach
34	chr11:67030800-67033400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:67030800-67033400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:67030800-67033400	Weak transcription	A549	lung
37	chr11:67030800-67033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:67030800-67033600	Weak transcription	Right Atrium	heart
39	chr11:67030800-67034000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:67031000-67032200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr11:67031000-67032800	Weak transcription	HepG2	liver
42	chr11:67031000-67033200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:67031000-67033200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:67031000-67033200	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:67031000-67033200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:67031000-67033200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr11:67031000-67033200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:67031000-67033200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr11:67031000-67033200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:67031000-67033200	Weak transcription	Brain Hippocampus Middle	brain

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