Variant report

Variant	esv3423249
Chromosome Location	chr9:101470556-101473104
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	BACH1	chr9:101471747-101472017	H1-hESC	embryonic stem cell:	n/a	n/a
2	CBX3	chr9:101472654-101472994	K562	blood:	n/a	n/a
3	CCNT2	chr9:101471103-101471297	K562	blood:	n/a	n/a
4	CEBPB	chr9:101472320-101472550	A549	lung:	n/a	n/a
5	CEBPB	chr9:101472340-101472637	K562	blood:	n/a	n/a
6	CEBPB	chr9:101472391-101472475	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr9:101472312-101472549	HepG2	liver:	n/a	n/a
8	CEBPB	chr9:101472349-101472812	IMR90	lung:	n/a	n/a
9	CTBP2	chr9:101471646-101472175	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr9:101471980-101472130	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
11	CTCF	chr9:101472040-101472190	GM12873	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059
12	CTCF	chr9:101472048-101472089	MCF-7	breast:	n/a	n/a
13	CTCF	chr9:101471960-101472110	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
14	CTCF	chr9:101472008-101472086	MCF-7	breast:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
15	CTCF	chr9:101472000-101472150	HMF	breast:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
16	CTCF	chr9:101471900-101472050	WERI-Rb-1	eye:	n/a	chr9:101471978-101471991
17	CTCF	chr9:101471880-101472030	HEK293	kidney:	n/a	chr9:101471978-101471991
18	CTCF	chr9:101471900-101472050	BE2_C	brain:	n/a	chr9:101471978-101471991
19	CTCF	chr9:101472800-101472950	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr9:101471880-101472030	HUVEC	blood vessel:	n/a	chr9:101471978-101471991
21	CTCF	chr9:101471980-101472130	HRE	kidney:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
22	CTCF	chr9:101471905-101472156	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
23	CTCF	chr9:101473100-101473250	GM12873	blood:	n/a	n/a
24	CTCF	chr9:101472040-101472190	HPAF	blood vessel:	n/a	chr9:101472044-101472062 chr9:101472046-101472059
25	CTCF	chr9:101471980-101472130	GM12871	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
26	CTCF	chr9:101471992-101472098	Medullo	brain:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
27	CTCF	chr9:101471893-101472229	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
28	CTCF	chr9:101471900-101472050	GM12874	blood:	n/a	chr9:101471978-101471991
29	CTCF	chr9:101472020-101472170	GM06990	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
30	CTCF	chr9:101471935-101472165	H1-hESC	embryonic stem cell:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
31	CTCF	chr9:101471940-101472090	WERI-Rb-1	eye:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
32	CTCF	chr9:101471920-101472070	GM12875	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
33	CTCF	chr9:101471881-101472173	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
34	CTCF	chr9:101471980-101472130	GM12874	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
35	CTCF	chr9:101471880-101472030	GM12873	blood:	n/a	chr9:101471978-101471991
36	CTCF	chr9:101471880-101472275	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
37	CTCF	chr9:101471980-101472130	HCFaa	heart:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
38	CTCF	chr9:101472041-101472074	GM12891	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059
39	CTCF	chr9:101471891-101472118	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
40	CTCF	chr9:101471960-101472110	HEK293	kidney:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
41	CTCF	chr9:101471980-101472107	Fibrobl	skin:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
42	CTCF	chr9:101471946-101472148	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
43	CTCF	chr9:101471956-101472148	K562	blood:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060 chr9:101471978-101471991
44	CTCF	chr9:101472000-101472150	HCM	heart:	n/a	chr9:101472044-101472062 chr9:101472046-101472059 chr9:101472039-101472060
45	E2F6	chr9:101471300-101471936	H1-hESC	embryonic stem cell:	n/a	chr9:101471705-101471715 chr9:101471712-101471721
46	E2F6	chr9:101471252-101471520	K562	blood:	n/a	chr9:101471255-101471264
47	EGR1	chr9:101471167-101471461	K562	blood:	n/a	n/a
48	EGR1	chr9:101471228-101471559	K562	blood:	n/a	chr9:101471520-101471533
49	ELF1	chr9:101471276-101471467	K562	blood:	n/a	n/a
50	EP300	chr9:101472828-101472910	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:101472149-101472199	HEK293	kidney:	embryo
2	chr9:101471986-101472036	Caco-2	colon:	n/a
3	chr9:101471921-101471971	GM12891	blood:	n/a
4	chr9:101470884-101470934	PrEC	prostate:	n/a
5	chr9:101470796-101470846	HCM	heart:	n/a
6	chr9:101470796-101470846	Hepatocyte	liver:	n/a
7	chr9:101470796-101470846	HUVEC	blood vessel:	n/a
8	chr9:101470884-101470934	SAEC	small airway:	n/a
9	chr9:101470796-101470846	ECC-1	luminal epithelium:	n/a
10	chr9:101471553-101471603	HNPCEpiC	eye:	n/a
11	chr9:101471553-101471603	U87	brain:	n/a
12	chr9:101472149-101472199	Caco-2	colon:	n/a
13	chr9:101471921-101471971	MCF-7	breast:	n/a
14	chr9:101471921-101471971	BE2_C	brain:	n/a
15	chr9:101471986-101472036	NHBE	bronchial:	n/a
16	chr9:101472149-101472199	Hepatocyte	liver:	n/a
17	chr9:101471986-101472036	LNCaP	prostate:	n/a
18	chr9:101471921-101471971	NHDF-neo	bronchial:	n/a
19	chr9:101472149-101472199	NHBE	bronchial:	n/a
20	chr9:101470796-101470846	SK-N-SH_RA	brain:	n/a
21	chr9:101471921-101471971	HRE	kidney:	n/a
22	chr9:101471553-101471603	SK-N-MC	brain:	n/a
23	chr9:101470884-101470934	AG04449	skin:	fetal
24	chr9:101471553-101471603	GM12891	blood:	n/a
25	chr9:101471553-101471603	SK-N-SH_RA	brain:	n/a
26	chr9:101470796-101470846	RPTEC	kidney:	n/a
27	chr9:101471921-101471971	HepG2	liver:	n/a
28	chr9:101471921-101471971	LNCaP	prostate:	n/a
29	chr9:101471553-101471603	HL-60	blood:	n/a
30	chr9:101471986-101472036	HUVEC	blood vessel:	n/a
31	chr9:101472149-101472199	AG04450	lung:	fetal
32	chr9:101471921-101471971	ProgFib	skin:	n/a
33	chr9:101470884-101470934	BJ	skin:	n/a
34	chr9:101470796-101470846	U87	brain:	n/a
35	chr9:101471921-101471971	NT2-D1	testis:	n/a
36	chr9:101470796-101470846	MCF10A-Er-Src	breast:	n/a
37	chr9:101472149-101472199	HPAEpiC	pulmonary alveolar:	n/a
38	chr9:101470796-101470846	T-47D	breast:	n/a
39	chr9:101471986-101472036	AG04450	lung:	fetal
40	chr9:101470796-101470846	CMK	blood:	n/a
41	chr9:101471553-101471603	PFSK-1	brain:	n/a
42	chr9:101472149-101472199	HRE	kidney:	n/a
43	chr9:101470796-101470846	SAEC	small airway:	n/a
44	chr9:101471553-101471603	HMEC	breast:	n/a
45	chr9:101471986-101472036	RPTEC	kidney:	n/a
46	chr9:101470884-101470934	NHDF-neo	bronchial:	n/a
47	chr9:101471553-101471603	NB4	blood:	n/a
48	chr9:101471986-101472036	NB4	blood:	n/a
49	chr9:101471921-101471971	NB4	blood:	n/a
50	chr9:101471921-101471971	U87	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101455554..101459399-chr9:101467510..101471263,4	MCF-7	breast:
2	chr9:101390132..101392094-chr9:101471584..101473721,2	MCF-7	breast:
3	chr9:101462868..101464769-chr9:101469228..101471376,2	MCF-7	breast:
4	chr9:101242548..101244258-chr9:101471901..101474101,2	MCF-7	breast:

Variant related genes	Relation type
GABBR2	TF binding region
GABBR2	CpG island

Extended variants
information (count: 81 )
Associated
traits (count: 76 )

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	rs546007743	chr9:101470558-101470559	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs112410216	chr9:101470576-101470577	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs528370562	chr9:101470624-101470625	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186943372	chr9:101470641-101470642	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs77213774	chr9:101470648-101470649	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530784180	chr9:101470659-101470660	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376755745	chr9:101470661-101470662	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570817139	chr9:101470675-101470676	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs539837952	chr9:101470683-101470684	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533615750	chr9:101470688-101470689	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs55767437	chr9:101470711-101470712	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs34485761	chr9:101470723-101470724	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370768849	chr9:101470751-101470752	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546788423	chr9:101470818-101470819	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145012175	chr9:101470819-101470820	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs371009733	chr9:101470830-101470831	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs374226063	chr9:101470845-101470846	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs562624664	chr9:101470951-101470952	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs13290380	chr9:101471003-101471004	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs35400353	chr9:101471178-101471179	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs397893196	chr9:101471180-101471181	Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535733522	chr9:101471314-101471315	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113682402	chr9:101471366-101471367	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs4080540	chr9:101471379-101471380	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568072198	chr9:101471446-101471447	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs536599060	chr9:101471455-101471456	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs556278468	chr9:101471456-101471457	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs111517151	chr9:101471470-101471471	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs576859190	chr9:101471505-101471506	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs539670307	chr9:101471532-101471533	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs553187375	chr9:101471588-101471589	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
32	rs573039452	chr9:101471608-101471609	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs542166643	chr9:101471624-101471625	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs114019022	chr9:101471683-101471684	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs575603807	chr9:101471707-101471708	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544271330	chr9:101471713-101471714	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs377420406	chr9:101471871-101471872	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs570200928	chr9:101471877-101471878	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs117118366	chr9:101471914-101471915	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576856215	chr9:101471930-101471931	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
41	rs544003902	chr9:101471959-101471960	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
42	rs546827065	chr9:101471969-101471970	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
43	rs376951153	chr9:101472017-101472018	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
44	rs560332256	chr9:101472024-101472025	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
45	rs529421195	chr9:101472047-101472048	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs549656830	chr9:101472082-101472083	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs188752931	chr9:101472086-101472087	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148073296	chr9:101472096-101472097	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs550282303	chr9:101472133-101472134	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570559987	chr9:101472145-101472146	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Esophageal cancer	21851588	CNVD
Melanoma	17363583	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:228 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101469000-101470600	Flanking Active TSS	HUVEC	blood vessel
2	chr9:101469000-101470800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr9:101469000-101471000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr9:101469000-101471000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr9:101469000-101471800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr9:101469200-101470800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr9:101469200-101470800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
8	chr9:101469200-101470800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
9	chr9:101469200-101470800	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr9:101469200-101470800	Bivalent Enhancer	Placenta	Placenta
11	chr9:101469200-101470800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
12	chr9:101469200-101471000	Bivalent Enhancer	HMEC	breast
13	chr9:101469200-101471800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
14	chr9:101469200-101471800	Enhancers	Liver	Liver
15	chr9:101469200-101472000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
16	chr9:101469200-101472000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
17	chr9:101469200-101472000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr9:101469200-101472000	Active TSS	Brain Angular Gyrus	brain
19	chr9:101469200-101472200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
20	chr9:101469400-101470600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr9:101469400-101470800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr9:101469400-101470800	Weak transcription	Right Atrium	heart
23	chr9:101469400-101471200	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr9:101469400-101472000	Active TSS	Brain Anterior Caudate	brain
25	chr9:101469600-101470600	Weak transcription	Gastric	stomach
26	chr9:101469600-101470800	Bivalent Enhancer	Fetal Brain Male	brain
27	chr9:101469600-101472000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr9:101469600-101472000	Bivalent/Poised TSS	A549	lung
29	chr9:101469800-101470800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr9:101469800-101471000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr9:101469800-101471200	Enhancers	Pancreas	Pancrea
32	chr9:101470000-101470600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:101470000-101470600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr9:101470000-101470600	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr9:101470000-101470600	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr9:101470000-101470600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr9:101470000-101470800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr9:101470000-101470800	Bivalent Enhancer	Fetal Stomach	stomach
39	chr9:101470000-101471000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
40	chr9:101470000-101471200	Enhancers	Primary hematopoietic stem cells	blood
41	chr9:101470000-101471600	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr9:101470000-101472200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
43	chr9:101470200-101470600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr9:101470200-101470600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr9:101470200-101470600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr9:101470200-101470600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr9:101470200-101470800	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:101470200-101470800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:101470200-101470800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:101470200-101470800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links