Variant report

Variant	esv3416227
Chromosome Location	chr11:64611426-64613274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:509)
CpG islands
(count:366)
Chromatin interactive
region (count:52)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:509 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64612570-64613035	K562	blood:	n/a	n/a
2	ARID3A	chr11:64611971-64612073	K562	blood:	n/a	n/a
3	ATF3	chr11:64611686-64611996	K562	blood:	n/a	chr11:64611848-64611857
4	BACH1	chr11:64611503-64611679	H1-hESC	embryonic stem cell:	n/a	n/a
5	BHLHE40	chr11:64612697-64612960	K562	blood:	n/a	n/a
6	BHLHE40	chr11:64611793-64611988	GM12878	blood:	n/a	n/a
7	BHLHE40	chr11:64611824-64612089	K562	blood:	n/a	n/a
8	CBX3	chr11:64611581-64612027	K562	blood:	n/a	n/a
9	CBX3	chr11:64612556-64612992	K562	blood:	n/a	n/a
10	CBX3	chr11:64612437-64613312	K562	blood:	n/a	n/a
11	CCNT2	chr11:64611740-64612565	K562	blood:	n/a	n/a
12	CEBPB	chr11:64612946-64613238	HepG2	liver:	n/a	chr11:64613105-64613116
13	CEBPB	chr11:64611885-64611983	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr11:64612937-64613231	IMR90	lung:	n/a	chr11:64613105-64613116
15	CEBPB	chr11:64612997-64613194	HepG2	liver:	n/a	chr11:64613105-64613116
16	CEBPB	chr11:64613013-64613232	H1-hESC	embryonic stem cell:	n/a	chr11:64613105-64613116
17	CEBPB	chr11:64612987-64613238	A549	lung:	n/a	chr11:64613105-64613116
18	CEBPB	chr11:64612890-64613305	K562	blood:	n/a	chr11:64613105-64613116
19	CEBPB	chr11:64612916-64613269	Hela-S3	cervix:	n/a	chr11:64613105-64613116
20	CEBPB	chr11:64613025-64613343	MCF-7	breast:	n/a	chr11:64613105-64613116
21	CEBPB	chr11:64612945-64613270	K562	blood:	n/a	chr11:64613105-64613116
22	CEBPD	chr11:64612998-64613167	HepG2	liver:	n/a	n/a
23	CHD1	chr11:64612059-64612093	GM12878	blood:	n/a	n/a
24	CHD2	chr11:64611797-64612126	Hela-S3	cervix:	n/a	n/a
25	CHD2	chr11:64612421-64612680	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr11:64611813-64612058	GM12878	blood:	n/a	n/a
27	CREB1	chr11:64612042-64612781	H1-hESC	embryonic stem cell:	n/a	n/a
28	CREB1	chr11:64611703-64612132	A549	lung:	n/a	n/a
29	CTCF	chr11:64611707-64611709	LNCaP	prostate:	n/a	n/a
30	CTCF	chr11:64611500-64611650	GM12865	blood:	n/a	n/a
31	CTCF	chr11:64611791-64612060	Fibrobl	skin:	n/a	n/a
32	CTCF	chr11:64611792-64612050	MCF-7	breast:	n/a	n/a
33	CTCF	chr11:64611843-64612014	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr11:64612061-64612064	Fibrobl	skin:	n/a	n/a
35	CTCF	chr11:64611660-64611810	A549	lung:	n/a	n/a
36	CTCF	chr11:64611795-64612062	K562	blood:	n/a	n/a
37	CTCF	chr11:64611560-64611710	RPTEC	kidney:	n/a	n/a
38	CTCF	chr11:64611840-64611990	HVMF	connective:	n/a	n/a
39	CTCF	chr11:64611820-64611970	HMF	breast:	n/a	n/a
40	CTCF	chr11:64611860-64612010	BE2_C	brain:	n/a	n/a
41	CTCF	chr11:64611540-64611690	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr11:64612166-64612339	Spleen_OC	spleen:	n/a	n/a
43	CTCF	chr11:64611600-64611750	HMF	breast:	n/a	n/a
44	CTCF	chr11:64611840-64611990	GM12866	blood:	n/a	n/a
45	CTCF	chr11:64611520-64611670	AG10803	skin:	n/a	n/a
46	CTCF	chr11:64611840-64611990	GM12875	blood:	n/a	n/a
47	CTCF	chr11:64611820-64611970	MCF-7	breast:	n/a	n/a
48	CTCF	chr11:64611785-64612131	A549	lung:	n/a	n/a
49	CTCF	chr11:64611711-64612130	GM12878	blood:	n/a	n/a
50	CTCF	chr11:64611840-64611990	GM12864	blood:	n/a	n/a

(count:366 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64612395-64612445	SK-N-MC	brain:	n/a
2	chr11:64612633-64612683	HEEpiC	esophagus:	n/a
3	chr11:64611972-64612022	AG09309	skin:	n/a
4	chr11:64612105-64612155	GM12878	blood:	n/a
5	chr11:64612847-64612897	HRCEpiC	kidney:	n/a
6	chr11:64612105-64612155	SK-N-MC	brain:	n/a
7	chr11:64611804-64611854	BE2_C	brain:	n/a
8	chr11:64612395-64612445	HepG2	liver:	n/a
9	chr11:64612105-64612155	AG09309	skin:	n/a
10	chr11:64611804-64611854	SKMC	muscle:	n/a
11	chr11:64611972-64612022	HMEC	breast:	n/a
12	chr11:64611972-64612022	BJ	skin:	n/a
13	chr11:64612395-64612445	ovcar-3	ovarian:	n/a
14	chr11:64612633-64612683	NHBE	bronchial:	n/a
15	chr11:64612633-64612683	AoSMC	blood vessel:	n/a
16	chr11:64612633-64612683	HAEpiC	amniotic membrane:	n/a
17	chr11:64612395-64612445	NH-A	brain:	n/a
18	chr11:64612105-64612155	RPTEC	kidney:	n/a
19	chr11:64611972-64612022	SK-N-SH	brain:	n/a
20	chr11:64612105-64612155	HPAEpiC	pulmonary alveolar:	n/a
21	chr11:64611804-64611854	MCF10A-Er-Src	breast:	n/a
22	chr11:64611972-64612022	Hepatocyte	liver:	n/a
23	chr11:64612633-64612683	MCF10A-Er-Src	breast:	n/a
24	chr11:64612395-64612445	HCF	heart:	n/a
25	chr11:64612395-64612445	AG04449	skin:	fetal
26	chr11:64611804-64611854	AG09319	gingival:	n/a
27	chr11:64612395-64612445	GM12878	blood:	n/a
28	chr11:64612395-64612445	AG04450	lung:	fetal
29	chr11:64611972-64612022	SAEC	small airway:	n/a
30	chr11:64612105-64612155	HRE	kidney:	n/a
31	chr11:64612395-64612445	MCF-7	breast:	n/a
32	chr11:64612633-64612683	HepG2	liver:	n/a
33	chr11:64612633-64612683	CMK	blood:	n/a
34	chr11:64612847-64612897	PANC-1	pancreas:	n/a
35	chr11:64612105-64612155	HCPEpiC	choroid plexus:	n/a
36	chr11:64612105-64612155	MCF-7	breast:	n/a
37	chr11:64612847-64612897	PFSK-1	brain:	n/a
38	chr11:64612395-64612445	GM12892	blood:	n/a
39	chr11:64612633-64612683	SK-N-MC	brain:	n/a
40	chr11:64612847-64612897	IMR90	lung:	fetal
41	chr11:64612395-64612445	PrEC	prostate:	n/a
42	chr11:64612105-64612155	AG09319	gingival:	n/a
43	chr11:64611804-64611854	HEEpiC	esophagus:	n/a
44	chr11:64611804-64611854	PrEC	prostate:	n/a
45	chr11:64611804-64611854	HPAEpiC	pulmonary alveolar:	n/a
46	chr11:64612633-64612683	RPTEC	kidney:	n/a
47	chr11:64612847-64612897	HIPEpiC	eye:	n/a
48	chr11:64612847-64612897	HUVEC	blood vessel:	n/a
49	chr11:64612633-64612683	GM12878	blood:	n/a
50	chr11:64612105-64612155	HMEC	breast:	n/a

(count:52 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:64575754..64580490-chr11:64608432..64614008,12	MCF-7	breast:
2	chr11:64609572..64613469-chr11:64883335..64886835,8	MCF-7	breast:
3	chr11:64613019..64614762-chr11:64839804..64841989,2	K562	blood:
4	chr11:64609540..64611839-chr11:64683362..64686250,3	MCF-7	breast:
5	chr11:64569062..64575536-chr11:64608720..64614805,15	MCF-7	breast:
6	chr11:64543744..64547403-chr11:64610118..64615032,5	K562	blood:
7	chr11:64582111..64584260-chr11:64609423..64611448,3	MCF-7	breast:
8	chr11:64550295..64559770-chr11:64606799..64612778,15	MCF-7	breast:
9	chr11:64571014..64575800-chr11:64609684..64614421,7	K562	blood:
10	chr11:64577579..64578185-chr11:64611685..64612354,2	MCF-7	breast:
11	chr11:64586935..64588442-chr11:64610471..64611985,2	K562	blood:
12	chr11:64544026..64547354-chr11:64610476..64614597,11	MCF-7	breast:
13	chr11:64568984..64570797-chr11:64610874..64612678,2	K562	blood:
14	chr11:64610442..64614915-chr11:64882306..64888577,8	K562	blood:
15	chr11:64612078..64613725-chr11:64876395..64879277,2	K562	blood:
16	chr11:64609880..64612266-chr11:64899287..64901632,2	MCF-7	breast:
17	chr11:64610201..64612402-chr11:64690717..64693183,2	MCF-7	breast:
18	chr11:64590245..64591969-chr11:64610109..64611646,2	MCF-7	breast:
19	chr11:64607780..64614825-chr11:64861884..64865172,9	MCF-7	breast:
20	chr11:64609203..64612039-chr11:64947854..64950170,2	MCF-7	breast:
21	chr11:64606648..64614730-chr11:64876453..64886748,20	MCF-7	breast:
22	chr11:64544644..64548990-chr11:64609868..64612302,3	K562	blood:
23	chr11:64563415..64565112-chr11:64609607..64611580,2	MCF-7	breast:
24	chr11:64613204..64616194-chr11:64878218..64881658,6	MCF-7	breast:
25	chr11:64570497..64571059-chr11:64611390..64611946,2	MCF-7	breast:
26	chr11:64612077..64613649-chr11:64793534..64795041,2	K562	blood:
27	chr11:64551984..64554191-chr11:64609308..64612002,2	K562	blood:
28	chr11:64611277..64614890-chr11:65264545..65267684,3	K562	blood:
29	chr11:64566105..64568273-chr11:64610113..64612842,2	MCF-7	breast:
30	chr11:64611858..64613691-chr11:64937445..64939310,2	K562	blood:
31	chr11:64543433..64548261-chr11:64608025..64614805,12	MCF-7	breast:
32	chr11:64568489..64574764-chr11:64609155..64613913,19	MCF-7	breast:
33	chr11:64610072..64612012-chr19:13952319..13954435,2	MCF-7	breast:
34	chr11:64607104..64613028-chr11:64878466..64882720,9	MCF-7	breast:
35	chr11:64609248..64611957-chr11:64839752..64841484,2	K562	blood:
36	chr11:64611788..64615884-chr11:64889092..64892306,4	K562	blood:
37	chr11:64565332..64568899-chr11:64608144..64611972,4	MCF-7	breast:
38	chr11:64597285..64598795-chr11:64609731..64611712,2	MCF-7	breast:
39	chr11:64609575..64612155-chr11:64889675..64891357,2	MCF-7	breast:
40	chr11:64609234..64611979-chr11:64863640..64866328,2	MCF-7	breast:
41	chr11:64592789..64597400-chr11:64608018..64611956,5	K562	blood:
42	chr11:64613057..64614829-chr11:64806850..64808969,2	K562	blood:
43	chr11:64562357..64564495-chr11:64608221..64612051,3	MCF-7	breast:
44	chr11:64611161..64616461-chr11:64883590..64887057,5	K562	blood:
45	chr11:64601267..64604477-chr11:64610068..64613369,3	K562	blood:
46	chr11:64609760..64612747-chr11:64851502..64854675,3	MCF-7	breast:
47	chr11:64610680..64612429-chr11:64793664..64796204,2	MCF-7	breast:
48	chr11:64612131..64614344-chr11:64949273..64950792,2	K562	blood:
49	chr11:64574843..64581404-chr11:64607394..64613763,11	MCF-7	breast:
50	chr11:64612059..64614738-chr11:64932959..64934868,2	K562	blood:

No data

Variant related genes	Relation type
CDC42BPG	TF binding region
CDC42BPG	CpG island
ENSG00000110046	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000110025	chromatin interactions
ENSG00000068971	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000254614	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000269038	chromatin interactions
ENSG00000146670	chromatin interactions
ENSG00000133895	chromatin interactions
ENSG00000204710	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000168066	chromatin interactions
ENSG00000270775	chromatin interactions
ENSG00000171219	chromatin interactions
ENSG00000269290	chromatin interactions
ENSG00000255173	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000168067	chromatin interactions

Extended variants
information (count: 67 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:67 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534723150	chr11:64611469-64611470	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
2	rs144155013	chr11:64611477-64611478	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
3	rs146043110	chr11:64611486-64611487	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
4	rs11231890	chr11:64611543-64611544	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs367990630	chr11:64611551-64611552	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
6	rs563279499	chr11:64611566-64611567	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
7	rs577092749	chr11:64611576-64611577	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
8	rs546050949	chr11:64611579-64611580	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
9	rs559300679	chr11:64611613-64611614	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
10	rs1633463	chr11:64611639-64611640	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
11	rs185943037	chr11:64611645-64611646	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
12	rs373727148	chr11:64611656-64611657	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
13	rs561094428	chr11:64611685-64611686	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
14	rs530127152	chr11:64611690-64611691	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
15	rs549796361	chr11:64611713-64611714	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
16	rs570009239	chr11:64611759-64611760	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
17	rs532713820	chr11:64611848-64611849	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
18	rs374233179	chr11:64611869-64611870	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
19	rs113649590	chr11:64612010-64612011	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
20	rs552800505	chr11:64612085-64612086	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
21	rs566151572	chr11:64612130-64612131	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	Overlapped CNVs	n/a
22	rs535176906	chr11:64612230-64612231	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
23	rs566457831	chr11:64612247-64612248	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
24	rs555197728	chr11:64612293-64612294	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs756671	chr11:64612322-64612323	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs11231891	chr11:64612344-64612345	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
27	rs71539701	chr11:64612349-64612350	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs2957160	chr11:64612369-64612370	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545790465	chr11:64612377-64612378	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
30	rs375400535	chr11:64612496-64612497	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs568682335	chr11:64612499-64612500	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs553188250	chr11:64612524-64612525	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs368753047	chr11:64612535-64612536	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs368518049	chr11:64612547-64612548	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs556215270	chr11:64612562-64612563	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs541665879	chr11:64612565-64612566	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs561528458	chr11:64612579-64612580	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs371933167	chr11:64612587-64612588	Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
39	rs182466996	chr11:64612627-64612628	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
40	rs543867117	chr11:64612628-64612629	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
41	rs563545623	chr11:64612638-64612639	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
42	rs571812751	chr11:64612722-64612723	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
43	rs532496203	chr11:64612790-64612791	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
44	rs375108247	chr11:64612861-64612862	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
45	rs478817	chr11:64612904-64612905	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
46	rs143199073	chr11:64612905-64612906	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
47	rs61886082	chr11:64612939-64612940	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
48	rs552598756	chr11:64612955-64612956	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
49	rs566421887	chr11:64612958-64612959	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
50	rs2957242	chr11:64612970-64612971	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:445 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64591200-64611600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:64596000-64611600	Weak transcription	Right Atrium	heart
3	chr11:64608000-64612000	Weak transcription	Ovary	ovary
4	chr11:64609400-64611600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:64609400-64611800	Flanking Active TSS	HMEC	breast
6	chr11:64609400-64612000	Flanking Active TSS	Hela-S3	cervix
7	chr11:64609600-64611600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:64609600-64611600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr11:64609800-64611800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:64609800-64611800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:64609800-64611800	Flanking Active TSS	K562	blood
12	chr11:64609800-64611800	Flanking Active TSS	NHEK	skin
13	chr11:64610000-64611800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:64610200-64612600	Active TSS	Esophagus	oesophagus
15	chr11:64610200-64612600	Enhancers	NH-A	brain
16	chr11:64610400-64611600	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr11:64610400-64611800	Flanking Active TSS	Placenta	Placenta
18	chr11:64610400-64611800	Enhancers	HSMM	muscle
19	chr11:64610600-64611800	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr11:64610600-64611800	Flanking Active TSS	A549	lung
21	chr11:64610600-64612600	Active TSS	Gastric	stomach
22	chr11:64610600-64612600	Active TSS	Rectal Smooth Muscle	rectum
23	chr11:64610600-64612600	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr11:64610800-64611600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:64610800-64611600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr11:64610800-64611600	Enhancers	Primary T cells fromperipheralblood	blood
27	chr11:64610800-64611800	Active TSS	Stomach Mucosa	stomach
28	chr11:64610800-64612000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr11:64610800-64612200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:64610800-64612600	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr11:64611000-64611600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:64611000-64611600	Enhancers	Primary B cells from cord blood	blood
33	chr11:64611000-64611600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:64611000-64611600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:64611000-64611600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:64611000-64611600	Bivalent/Poised TSS	Fetal Stomach	stomach
37	chr11:64611000-64611600	Enhancers	Thymus	Thymus
38	chr11:64611000-64611800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:64611000-64611800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
40	chr11:64611000-64612200	Enhancers	Fetal Muscle Trunk	muscle
41	chr11:64611000-64612600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:64611000-64612600	Active TSS	Pancreas	Pancrea
43	chr11:64611000-64612800	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:64611000-64613000	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr11:64611200-64611600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr11:64611200-64611600	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr11:64611200-64611600	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr11:64611200-64611600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:64611200-64611600	Enhancers	Fetal Muscle Leg	muscle
50	chr11:64611200-64611600	Weak transcription	HSMMtube	muscle

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