Variant report

Variant	esv3405622
Chromosome Location	chr12:51662910-51665458
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:724)
CpG islands
(count:671)
Chromatin interactive
region (count:18)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:724 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:51663313-51663492	K562	blood:	n/a	n/a
2	ATF2	chr12:51663156-51663670	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr12:51663218-51663655	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:51663253-51664196	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:51663412-51663421	K562	blood:	n/a	n/a
6	BCLAF1	chr12:51663833-51664191	GM12878	blood:	n/a	chr12:51664072-51664085
7	BHLHE40	chr12:51663848-51664184	GM12878	blood:	n/a	chr12:51664049-51664065
8	BHLHE40	chr12:51663941-51664073	K562	blood:	n/a	chr12:51664049-51664065
9	BHLHE40	chr12:51664681-51664733	K562	blood:	n/a	n/a
10	BHLHE40	chr12:51663320-51663728	K562	blood:	n/a	n/a
11	BRCA1	chr12:51663507-51663632	HepG2	liver:	n/a	n/a
12	BRCA1	chr12:51663283-51663572	H1-hESC	embryonic stem cell:	n/a	n/a
13	BRCA1	chr12:51663505-51663642	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr12:51663127-51663709	K562	blood:	n/a	n/a
15	CBX3	chr12:51664191-51664591	K562	blood:	n/a	n/a
16	CCNT2	chr12:51663405-51664163	K562	blood:	n/a	n/a
17	CEBPB	chr12:51663422-51663519	K562	blood:	n/a	n/a
18	CEBPB	chr12:51663348-51663639	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr12:51663293-51663549	H1-hESC	embryonic stem cell:	n/a	n/a
20	CEBPD	chr12:51663397-51663673	HepG2	liver:	n/a	n/a
21	CEBPD	chr12:51663816-51664141	HepG2	liver:	n/a	n/a
22	CHD1	chr12:51663303-51663762	H1-hESC	embryonic stem cell:	n/a	n/a
23	CHD1	chr12:51663383-51663511	GM12878	blood:	n/a	n/a
24	CHD1	chr12:51664581-51664584	GM12878	blood:	n/a	n/a
25	CHD2	chr12:51664455-51664535	GM12878	blood:	n/a	n/a
26	CHD2	chr12:51663326-51663668	Hela-S3	cervix:	n/a	n/a
27	CHD2	chr12:51663909-51665084	Hela-S3	cervix:	n/a	n/a
28	CHD2	chr12:51663910-51664151	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr12:51663878-51664122	GM12878	blood:	n/a	n/a
30	CHD2	chr12:51663308-51663607	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr12:51664087-51664135	HepG2	liver:	n/a	n/a
32	CHD2	chr12:51663992-51664046	K562	blood:	n/a	n/a
33	CHD2	chr12:51663276-51663496	K562	blood:	n/a	n/a
34	CREB1	chr12:51663292-51664222	H1-hESC	embryonic stem cell:	n/a	chr12:51663478-51663491
35	CREB1	chr12:51663237-51664855	HepG2	liver:	n/a	chr12:51663478-51663491
36	CREB1	chr12:51663908-51664737	A549	lung:	n/a	n/a
37	CREB1	chr12:51663533-51664320	K562	blood:	n/a	n/a
38	CREB1	chr12:51663802-51664299	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr12:51664240-51664390	GM12869	blood:	n/a	chr12:51664248-51664269 chr12:51664255-51664268 chr12:51664253-51664271
40	CTCF	chr12:51663860-51664010	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr12:51663380-51663530	HCPEpiC	choroid plexus:	n/a	chr12:51663487-51663505 chr12:51663489-51663510 chr12:51663490-51663499
42	CTCF	chr12:51663280-51663430	HFF-Myc	foreskin:	n/a	n/a
43	CTCF	chr12:51664224-51664345	MCF-7	breast:	n/a	chr12:51664248-51664269 chr12:51664255-51664268 chr12:51664253-51664271
44	CTCF	chr12:51664360-51664510	GM06990	blood:	n/a	n/a
45	CTCF	chr12:51664220-51664370	HCPEpiC	choroid plexus:	n/a	chr12:51664248-51664269 chr12:51664255-51664268 chr12:51664253-51664271
46	CTCF	chr12:51663180-51663330	GM12872	blood:	n/a	chr12:51663212-51663233
47	CTCF	chr12:51663320-51663470	HCM	heart:	n/a	n/a
48	CTCF	chr12:51663280-51663430	WI-38	lung:	n/a	n/a
49	CTCF	chr12:51664049-51664111	Lung_OC	lung:	n/a	n/a
50	CTCF	chr12:51664140-51664290	HepG2	liver:	n/a	chr12:51664248-51664269 chr12:51664255-51664268 chr12:51664253-51664271

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:51664551-51664601	AG09309	skin:	n/a
2	chr12:51663484-51663534	HEK293	kidney:	embryo
3	chr12:51664551-51664601	BJ	skin:	n/a
4	chr12:51664655-51664705	RPTEC	kidney:	n/a
5	chr12:51664642-51664692	Jurkat	blood:	n/a
6	chr12:51664394-51664444	NHBE	bronchial:	n/a
7	chr12:51663310-51663360	HCF	heart:	n/a
8	chr12:51664575-51664625	HMEC	breast:	n/a
9	chr12:51664410-51664460	HPAEpiC	pulmonary alveolar:	n/a
10	chr12:51664394-51664444	PANC-1	pancreas:	n/a
11	chr12:51664655-51664705	HepG2	liver:	n/a
12	chr12:51664642-51664692	Hepatocyte	liver:	n/a
13	chr12:51664655-51664705	H1-hESC	embryonic stem cell:	embryo
14	chr12:51664256-51664306	AG04450	lung:	fetal
15	chr12:51664410-51664460	LNCaP	prostate:	n/a
16	chr12:51664394-51664444	SAEC	small airway:	n/a
17	chr12:51664256-51664306	A549	lung:	n/a
18	chr12:51664410-51664460	SK-N-SH_RA	brain:	n/a
19	chr12:51663484-51663534	HIPEpiC	eye:	n/a
20	chr12:51664394-51664444	GM12892	blood:	n/a
21	chr12:51664410-51664460	AG09309	skin:	n/a
22	chr12:51664410-51664460	NHBE	bronchial:	n/a
23	chr12:51664642-51664692	MCF10A-Er-Src	breast:	n/a
24	chr12:51664245-51664295	AG04450	lung:	fetal
25	chr12:51664642-51664692	IMR90	lung:	fetal
26	chr12:51664551-51664601	NT2-D1	testis:	n/a
27	chr12:51664642-51664692	ovcar-3	ovarian:	n/a
28	chr12:51664575-51664625	HRPEpiC	eye:	n/a
29	chr12:51664575-51664625	Caco-2	colon:	n/a
30	chr12:51664392-51664442	AG10803	skin:	n/a
31	chr12:51663484-51663534	AG09309	skin:	n/a
32	chr12:51664256-51664306	GM06990	blood:	n/a
33	chr12:51664551-51664601	SAEC	small airway:	n/a
34	chr12:51664392-51664442	LNCaP	prostate:	n/a
35	chr12:51664394-51664444	MCF10A-Er-Src	breast:	n/a
36	chr12:51664410-51664460	HAEpiC	amniotic membrane:	n/a
37	chr12:51664575-51664625	U87	brain:	n/a
38	chr12:51664642-51664692	BE2_C	brain:	n/a
39	chr12:51663310-51663360	Hepatocyte	liver:	n/a
40	chr12:51664394-51664444	MCF-7	breast:	n/a
41	chr12:51664642-51664692	Caco-2	colon:	n/a
42	chr12:51664642-51664692	HPAEpiC	pulmonary alveolar:	n/a
43	chr12:51664642-51664692	HL-60	blood:	n/a
44	chr12:51664245-51664295	MCF10A-Er-Src	breast:	n/a
45	chr12:51664575-51664625	NH-A	brain:	n/a
46	chr12:51664575-51664625	T-47D	breast:	n/a
47	chr12:51663484-51663534	HRPEpiC	eye:	n/a
48	chr12:51664392-51664442	AG09319	gingival:	n/a
49	chr12:51664551-51664601	HCT-116	colon:	n/a
50	chr12:51664551-51664601	GM12891	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:51664358..51665286-chr9:117349629..117350181,2	Hela-S3	cervix:
2	chr12:51440784..51442942-chr12:51664189..51666029,2	MCF-7	breast:
3	chr12:51474899..51477450-chr12:51661996..51663687,2	K562	blood:
4	chr12:51661913..51666807-chr12:51714627..51721165,8	MCF-7	breast:
5	chr12:51630916..51632969-chr12:51661911..51664202,4	MCF-7	breast:
6	chr12:51440322..51443098-chr12:51662230..51665433,4	K562	blood:
7	chr12:51661897..51665217-chr12:51739188..51742261,4	MCF-7	breast:
8	chr1:210547164..210547723-chr12:51663910..51664553,2	Hela-S3	cervix:
9	chr12:51397939..51400659-chr12:51662476..51664122,2	MCF-7	breast:
10	chr12:51416514..51419391-chr12:51663583..51665592,2	MCF-7	breast:
11	chr12:51663201..51663777-chr6:26158272..26158847,2	HCT-116	colon:
12	chr12:51476120..51478171-chr12:51663790..51665919,2	MCF-7	breast:
13	chr12:51662477..51664063-chr12:51717292..51718857,2	MCF-7	breast:
14	chr12:51631526..51635212-chr12:51662486..51664929,4	MCF-7	breast:
15	chr12:51475968..51477695-chr12:51663580..51665438,2	MCF-7	breast:
16	chr12:51565300..51568760-chr12:51661642..51664290,3	K562	blood:
17	chr12:51610247..51612632-chr12:51665194..51666759,2	K562	blood:
18	chr12:51664068..51664576-chr8:103876150..103876665,2	Hela-S3	cervix:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DAZAP2-4	chr12:51663735-51663780	NONHSAT028251
2	lnc-DAZAP2-4	chr12:51664502-51665081	NONHSAT028252
3	lnc-DAZAP2-4	chr12:51663873-51664187	NONHSAT028252
4	lnc-DAZAP2-4	chr12:51664502-51665144	NONHSAT028251

No data

Variant related genes	Relation type
SMAGP	TF binding region
SMAGP	CpG island
ENSG00000253320	chromatin interactions
ENSG00000139610	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000110911	chromatin interactions
ENSG00000155096	chromatin interactions
ENSG00000184271	chromatin interactions
ENSG00000135457	chromatin interactions
ENSG00000110934	chromatin interactions
ENSG00000136888	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000110925	chromatin interactions
ENSG00000183283	chromatin interactions
ENSG00000200972	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576788018	chr12:51662932-51662933	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs535805859	chr12:51662972-51662973	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs377147341	chr12:51662980-51662981	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs555722597	chr12:51662983-51662984	Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs145893400	chr12:51663012-51663013	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs376770334	chr12:51663016-51663017	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs371385707	chr12:51663031-51663032	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs201025185	chr12:51663050-51663051	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs368790592	chr12:51663051-51663052	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs369345944	chr12:51663140-51663141	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs375883311	chr12:51663190-51663191	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
12	rs2114876	chr12:51663215-51663216	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs551462539	chr12:51663264-51663265	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs116403094	chr12:51663339-51663340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs147805362	chr12:51663384-51663385	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs563180664	chr12:51663401-51663402	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs375913628	chr12:51663418-51663419	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs529179953	chr12:51663458-51663459	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs549057063	chr12:51663467-51663468	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs75133818	chr12:51663472-51663473	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs527539124	chr12:51663485-51663486	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs528085352	chr12:51663513-51663514	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs542216511	chr12:51663552-51663553	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs551461550	chr12:51663565-51663566	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs369338735	chr12:51663571-51663572	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs560517346	chr12:51663572-51663573	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs537171188	chr12:51663581-51663582	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs76143369	chr12:51663590-51663591	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs549832239	chr12:51663611-51663612	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs35409123	chr12:51663644-51663645	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs570301943	chr12:51663645-51663646	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs376908377	chr12:51663655-51663656	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs117048666	chr12:51663699-51663700	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs572363708	chr12:51663713-51663714	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs201874911	chr12:51663715-51663716	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs534720290	chr12:51663731-51663732	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs557800172	chr12:51663736-51663737	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs577702860	chr12:51663794-51663795	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs543554531	chr12:51663817-51663818	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs556735731	chr12:51663834-51663835	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs573758664	chr12:51663839-51663840	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs542867146	chr12:51663850-51663851	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs375397631	chr12:51664015-51664016	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
44	rs148977360	chr12:51664019-51664020	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
45	rs528060798	chr12:51664024-51664025	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
46	rs544998739	chr12:51664055-51664056	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
47	rs564907954	chr12:51664080-51664081	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
48	rs530611920	chr12:51664088-51664089	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
49	rs73307788	chr12:51664108-51664109	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
50	rs188070189	chr12:51664120-51664121	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21509527	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	20409316	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51641600-51663000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr12:51642200-51663000	Weak transcription	Lung	lung
3	chr12:51653400-51663400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:51659400-51663000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:51659600-51663000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:51659600-51663000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr12:51659600-51663200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:51661000-51665000	Active TSS	Colonic Mucosa	Colon
9	chr12:51661200-51663000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:51661400-51664800	Active TSS	Esophagus	oesophagus
11	chr12:51661600-51663200	Active TSS	Rectal Smooth Muscle	rectum
12	chr12:51661600-51664600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:51661800-51664400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr12:51662200-51663000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:51662200-51663000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:51662200-51663000	Enhancers	HepG2	liver
17	chr12:51662400-51663000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:51662400-51663000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:51662600-51663000	Enhancers	Primary B cells from peripheral blood	blood
20	chr12:51662600-51663000	Enhancers	Primary hematopoietic stem cells	blood
21	chr12:51662600-51663000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:51662600-51663200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:51662600-51663200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr12:51662600-51663400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr12:51662600-51663400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:51662600-51663400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr12:51662600-51663400	Flanking Active TSS	NHEK	skin
28	chr12:51662600-51663600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:51662600-51663600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr12:51662600-51663600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:51662600-51663600	Flanking Active TSS	K562	blood
32	chr12:51662600-51663600	Flanking Active TSS	NH-A	brain
33	chr12:51662600-51664600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr12:51662800-51663000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
37	chr12:51662800-51663000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:51662800-51663000	Active TSS	Primary B cells from cord blood	blood
39	chr12:51662800-51663000	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr12:51662800-51663000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr12:51662800-51663000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr12:51662800-51663000	Flanking Active TSS	Adipose Nuclei	Adipose
43	chr12:51662800-51663000	Enhancers	Liver	Liver
44	chr12:51662800-51663000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:51662800-51663000	Active TSS	Fetal Intestine Large	intestine
46	chr12:51662800-51663000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
47	chr12:51662800-51663000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
48	chr12:51662800-51663000	Active TSS	A549	lung
49	chr12:51662800-51663000	Transcr. at gene 5' and 3'	HSMM	muscle
50	chr12:51662800-51663000	Active TSS	NHDF-Ad	bronchial

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