Variant report

Variant	esv3341963
Chromosome Location	chr2:11051501-11053499
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	chr2:11051644-11052076	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr2:11051636-11052221	A549	lung:	n/a	chr2:11051929-11051942 chr2:11052159-11052172 chr2:11052183-11052192 chr2:11051938-11051951
3	BHLHE40	chr2:11051905-11052116	A549	lung:	n/a	chr2:11051932-11051948 chr2:11051982-11051998
4	CEBPB	chr2:11051871-11052064	A549	lung:	n/a	chr2:11051993-11052010
5	CHD1	chr2:11052102-11052105	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr2:11051582-11051992	H1-hESC	embryonic stem cell:	n/a	n/a
7	CREB1	chr2:11051707-11052236	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr2:11051746-11052236	A549	lung:	n/a	n/a
9	CREB1	chr2:11051852-11052156	A549	lung:	n/a	n/a
10	CTBP2	chr2:11051456-11052843	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr2:11051920-11052070	BE2_C	brain:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
12	CTCF	chr2:11051920-11052070	HCPEpiC	choroid plexus:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
13	CTCF	chr2:11051759-11051830	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr2:11051960-11052110	AG04449	skin:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
15	CTCF	chr2:11051680-11051830	AG10803	skin:	n/a	n/a
16	CTCF	chr2:11051960-11052110	HBMEC	blood vessel:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
17	CTCF	chr2:11051960-11052110	HUVEC	blood vessel:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
18	CTCF	chr2:11051765-11051834	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:11051720-11051870	HRPEpiC	eye:	n/a	n/a
20	CTCF	chr2:11051960-11052110	AG04450	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
21	CTCF	chr2:11051766-11052113	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
22	CTCF	chr2:11051960-11052110	SK-N-SH_RA	brain:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
23	CTCF	chr2:11051880-11052030	Hela-S3	cervix:	n/a	chr2:11052009-11052027
24	CTCF	chr2:11051900-11052050	HFF-Myc	foreskin:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
25	CTCF	chr2:11051480-11051630	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr2:11051940-11052090	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
27	CTCF	chr2:11051980-11052130	HVMF	connective:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
28	CTCF	chr2:11051515-11052351	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052225-11052238 chr2:11052011-11052032
29	CTCF	chr2:11051720-11051870	HA-sp	spinal cord:	n/a	n/a
30	CTCF	chr2:11051500-11051650	HEK293	kidney:	n/a	n/a
31	CTCF	chr2:11051940-11052090	HVMF	connective:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
32	CTCF	chr2:11051660-11051810	HRE	kidney:	n/a	n/a
33	CTCF	chr2:11051980-11052130	HUVEC	blood vessel:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
34	CTCF	chr2:11051920-11052070	AG04450	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
35	CTCF	chr2:11051740-11051890	HRPEpiC	eye:	n/a	n/a
36	CTCF	chr2:11051940-11052090	HepG2	liver:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
37	CTCF	chr2:11051929-11052081	Hela-S3	cervix:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
38	CTCF	chr2:11051920-11052070	Hela-S3	cervix:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
39	CTCF	chr2:11051980-11052130	RPTEC	kidney:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
40	CTCF	chr2:11051656-11052186	MCF-7	breast:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
41	CTCF	chr2:11051960-11052110	A549	lung:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
42	CTCF	chr2:11051780-11051839	Kidney_OC	kidney:	n/a	n/a
43	CTCF	chr2:11051940-11052090	HCM	heart:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
44	CTCF	chr2:11051920-11052070	AoAF	blood vessel:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
45	CTCF	chr2:11051969-11051985	Kidney_OC	kidney:	n/a	n/a
46	CTCF	chr2:11051680-11051830	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr2:11051940-11052090	HEEpiC	esophagus:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
48	CTCF	chr2:11051960-11052110	HFF-Myc	foreskin:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
49	CTCF	chr2:11051993-11052041	Kidney_OC	kidney:	n/a	chr2:11052009-11052027 chr2:11052011-11052032
50	CTCF	chr2:11051706-11052044	H1-hESC	embryonic stem cell:	n/a	chr2:11052009-11052027 chr2:11052011-11052032

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:11052081-11052131	AG04449	skin:	fetal
2	chr2:11051991-11052041	GM12892	blood:	n/a
3	chr2:11051728-11051778	HepG2	liver:	n/a
4	chr2:11052885-11052935	LNCaP	prostate:	n/a
5	chr2:11052081-11052131	Hela-S3	cervix:	n/a
6	chr2:11052558-11052608	PANC-1	pancreas:	n/a
7	chr2:11052081-11052131	HEEpiC	esophagus:	n/a
8	chr2:11052102-11052152	HEEpiC	esophagus:	n/a
9	chr2:11051991-11052041	LNCaP	prostate:	n/a
10	chr2:11051953-11052003	AG04449	skin:	fetal
11	chr2:11051973-11052023	AoSMC	blood vessel:	n/a
12	chr2:11051728-11051778	AG04450	lung:	fetal
13	chr2:11051973-11052023	Caco-2	colon:	n/a
14	chr2:11051728-11051778	HUVEC	blood vessel:	n/a
15	chr2:11052102-11052152	SAEC	small airway:	n/a
16	chr2:11052081-11052131	HMEC	breast:	n/a
17	chr2:11052558-11052608	K562	blood:	n/a
18	chr2:11052102-11052152	HPAEpiC	pulmonary alveolar:	n/a
19	chr2:11051973-11052023	MCF-7	breast:	n/a
20	chr2:11051973-11052023	NHBE	bronchial:	n/a
21	chr2:11052081-11052131	NHDF-neo	bronchial:	n/a
22	chr2:11051973-11052023	ECC-1	luminal epithelium:	n/a
23	chr2:11051953-11052003	HCT-116	colon:	n/a
24	chr2:11051973-11052023	HRE	kidney:	n/a
25	chr2:11051991-11052041	GM06990	blood:	n/a
26	chr2:11051973-11052023	PrEC	prostate:	n/a
27	chr2:11052558-11052608	ovcar-3	ovarian:	n/a
28	chr2:11051991-11052041	AG09319	gingival:	n/a
29	chr2:11051953-11052003	IMR90	lung:	fetal
30	chr2:11052558-11052608	MCF10A-Er-Src	breast:	n/a
31	chr2:11051953-11052003	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:11051953-11052003	HCPEpiC	choroid plexus:	n/a
33	chr2:11051973-11052023	HRPEpiC	eye:	n/a
34	chr2:11051953-11052003	ECC-1	luminal epithelium:	n/a
35	chr2:11052885-11052935	Hela-S3	cervix:	n/a
36	chr2:11051802-11051852	NHBE	bronchial:	n/a
37	chr2:11051802-11051852	CMK	blood:	n/a
38	chr2:11052081-11052131	U87	brain:	n/a
39	chr2:11052081-11052131	CMK	blood:	n/a
40	chr2:11051953-11052003	MCF-7	breast:	n/a
41	chr2:11052102-11052152	GM12878	blood:	n/a
42	chr2:11052102-11052152	U87	brain:	n/a
43	chr2:11052102-11052152	AG04449	skin:	fetal
44	chr2:11051973-11052023	NHDF-neo	bronchial:	n/a
45	chr2:11052081-11052131	AoSMC	blood vessel:	n/a
46	chr2:11051953-11052003	ProgFib	skin:	n/a
47	chr2:11051728-11051778	HCT-116	colon:	n/a
48	chr2:11052558-11052608	HEEpiC	esophagus:	n/a
49	chr2:11052081-11052131	PrEC	prostate:	n/a
50	chr2:11052885-11052935	GM19239	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11040441..11043101-chr2:11053459..11055088,2	MCF-7	breast:
2	chr2:11049134..11051684-chr2:11064717..11067313,2	K562	blood:
3	chr2:11045162..11047241-chr2:11052527..11054468,2	K562	blood:
4	chr2:10977377..10978983-chr2:11051588..11054422,2	MCF-7	breast:
5	chr2:11049420..11051539-chr2:11073823..11076217,2	MCF-7	breast:
6	chr2:11052090..11054765-chr2:11077274..11080049,2	K562	blood:

Variant related genes	Relation type
KCNF1	TF binding region
KCNF1	CpG island
ENSG00000143870	chromatin interactions

Extended variants
information (count: 63 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs57969636	chr2:11051528-11051529	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs571226821	chr2:11051638-11051639	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs186100629	chr2:11051648-11051649	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs556642875	chr2:11051659-11051660	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs573047331	chr2:11051757-11051758	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs529609698	chr2:11051772-11051773	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568836570	chr2:11051773-11051774	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs143645947	chr2:11051810-11051811	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs369997133	chr2:11051835-11051836	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs554429193	chr2:11051893-11051894	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs572830333	chr2:11051922-11051923	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs111661864	chr2:11051938-11051939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs557798494	chr2:11051984-11051985	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs558735091	chr2:11051988-11051989	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs112462228	chr2:11052038-11052039	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs577230482	chr2:11052119-11052120	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs373451952	chr2:11052130-11052131	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs544697493	chr2:11052137-11052138	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs562888983	chr2:11052142-11052143	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530095017	chr2:11052183-11052184	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs542276479	chr2:11052207-11052208	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs12617163	chr2:11052221-11052222	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs528014082	chr2:11052388-11052389	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs552768809	chr2:11052405-11052406	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs564710821	chr2:11052499-11052500	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs544531420	chr2:11052533-11052534	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs550642036	chr2:11052589-11052590	Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs147760531	chr2:11052630-11052631	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs201712383	chr2:11052639-11052640	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs199875738	chr2:11052656-11052657	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs146949759	chr2:11052660-11052661	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs532816858	chr2:11052693-11052694	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs545635060	chr2:11052701-11052702	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141961283	chr2:11052703-11052704	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs566398442	chr2:11052711-11052712	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs370503620	chr2:11052724-11052725	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199646402	chr2:11052741-11052742	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs375600263	chr2:11052768-11052769	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs193920977	chr2:11052800-11052801	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs138975329	chr2:11052852-11052853	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs199752745	chr2:11052867-11052868	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs151111224	chr2:11052924-11052925	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs201047040	chr2:11052941-11052942	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs146303502	chr2:11052942-11052943	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs142872443	chr2:11053006-11053007	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs368995113	chr2:11053008-11053009	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs373432598	chr2:11053011-11053012	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs3732104	chr2:11053020-11053021	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531489171	chr2:11053080-11053081	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs537683504	chr2:11053097-11053098	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Mental retardation	17847001	CNVD
Glioblastoma multiforme	21080181	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Cancer	20164920	CNVD
Neuroblastoma	21508638	CNVD
Breast cancer	17603634	CNVD
Cancer	16751803	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Ependymoma	16718352	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Glioma	17123091	CNVD
Breast cancer	20409316	CNVD
Multiple myeloma	16616336	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD

Chromatin state (count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11049800-11051600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr2:11050800-11051600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
3	chr2:11050800-11051600	Enhancers	Spleen	Spleen
4	chr2:11050800-11051600	Bivalent Enhancer	HSMMtube	muscle
5	chr2:11051000-11051600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11051000-11051800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:11051200-11051600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
8	chr2:11051200-11051600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:11051200-11051600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:11051200-11051600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr2:11051200-11051600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr2:11051200-11051600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:11051200-11051800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr2:11051200-11052800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
15	chr2:11051200-11054000	Bivalent/Poised TSS	Brain Anterior Caudate	brain
16	chr2:11051200-11054600	Bivalent Enhancer	Placenta	Placenta
17	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
20	chr2:11051400-11051600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr2:11051400-11051600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr2:11051400-11051600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:11051400-11051600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr2:11051400-11051600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
27	chr2:11051400-11051600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
28	chr2:11051400-11051800	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:11051400-11051800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
30	chr2:11051400-11051800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:11051400-11051800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:11051400-11051800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:11051400-11051800	Enhancers	Pancreas	Pancrea
34	chr2:11051400-11051800	Flanking Active TSS	Right Ventricle	heart
35	chr2:11051400-11052000	Bivalent Enhancer	Liver	Liver
36	chr2:11051400-11052000	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
37	chr2:11051400-11052000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
38	chr2:11051400-11052000	Flanking Active TSS	A549	lung
39	chr2:11051400-11052200	Flanking Bivalent TSS/Enh	HepG2	liver
40	chr2:11051400-11052600	Bivalent Enhancer	Fetal Thymus	thymus
41	chr2:11051400-11052800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
42	chr2:11051400-11052800	Bivalent/Poised TSS	Fetal Brain Female	brain
43	chr2:11051400-11053000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
44	chr2:11051400-11053000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:11051400-11053000	Bivalent Enhancer	Fetal Lung	lung
46	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
47	chr2:11051600-11051800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr2:11051600-11051800	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr2:11051600-11051800	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell

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