Variant report

Variant	esv3493374
Chromosome Location	chr12:124458433-124496012
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:781)
CpG islands
(count:427)
Chromatin interactive
region (count:57)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:781 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124463371-124463455	K562	blood:	n/a	n/a
2	ARID3A	chr12:124468469-124468621	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124490607-124490829	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:124468487-124468879	K562	blood:	n/a	n/a
5	ARID3A	chr12:124458587-124458704	K562	blood:	n/a	n/a
6	ARID3A	chr12:124482365-124483916	K562	blood:	n/a	n/a
7	ATF1	chr12:124476031-124476477	K562	blood:	n/a	n/a
8	ATF1	chr12:124482494-124483845	K562	blood:	n/a	n/a
9	ATF1	chr12:124482020-124482272	K562	blood:	n/a	n/a
10	BACH1	chr12:124492535-124492551	H1-hESC	embryonic stem cell:	n/a	n/a
11	BACH1	chr12:124458481-124458670	H1-hESC	embryonic stem cell:	n/a	n/a
12	BATF	chr12:124492793-124493083	GM12878	blood:	n/a	n/a
13	BATF	chr12:124492783-124493095	GM12878	blood:	n/a	n/a
14	BHLHE40	chr12:124492758-124493088	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:124468457-124468600	K562	blood:	n/a	n/a
16	BHLHE40	chr12:124458549-124458726	K562	blood:	n/a	chr12:124458574-124458590
17	BHLHE40	chr12:124483021-124483708	K562	blood:	n/a	n/a
18	BHLHE40	chr12:124492774-124493036	K562	blood:	n/a	n/a
19	BHLHE40	chr12:124491473-124491628	K562	blood:	n/a	n/a
20	BRCA1	chr12:124475696-124476289	Hela-S3	cervix:	n/a	n/a
21	CCNT2	chr12:124482888-124483133	K562	blood:	n/a	chr12:124482963-124482983
22	CCNT2	chr12:124456410-124458750	K562	blood:	n/a	chr12:124457953-124457962 chr12:124457619-124457628
23	CEBPB	chr12:124475843-124476359	HCT-116	colon:	n/a	n/a
24	CEBPB	chr12:124475153-124475394	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:124474571-124474908	HepG2	liver:	n/a	chr12:124474747-124474758
26	CEBPB	chr12:124475853-124476151	IMR90	lung:	n/a	n/a
27	CEBPB	chr12:124475139-124475451	IMR90	lung:	n/a	n/a
28	CEBPB	chr12:124468415-124468654	HepG2	liver:	n/a	n/a
29	CEBPB	chr12:124475662-124476299	HCT-116	colon:	n/a	n/a
30	CEBPB	chr12:124483380-124483844	K562	blood:	n/a	n/a
31	CEBPB	chr12:124475913-124476165	A549	lung:	n/a	n/a
32	CEBPB	chr12:124475823-124476152	K562	blood:	n/a	n/a
33	CEBPB	chr12:124475808-124476416	Hela-S3	cervix:	n/a	n/a
34	CEBPB	chr12:124474649-124474804	A549	lung:	n/a	chr12:124474747-124474758
35	CEBPB	chr12:124479557-124479982	IMR90	lung:	n/a	n/a
36	CEBPB	chr12:124492626-124492975	K562	blood:	n/a	n/a
37	CEBPB	chr12:124483490-124483869	IMR90	lung:	n/a	n/a
38	CEBPB	chr12:124475857-124476113	HepG2	liver:	n/a	n/a
39	CEBPB	chr12:124492431-124493030	IMR90	lung:	n/a	n/a
40	CHD1	chr12:124458249-124458876	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr12:124491202-124491266	GM12878	blood:	n/a	n/a
42	CHD2	chr12:124458489-124458750	Hela-S3	cervix:	n/a	n/a
43	CHD2	chr12:124468486-124468652	HepG2	liver:	n/a	n/a
44	CHD2	chr12:124458429-124458582	GM12878	blood:	n/a	n/a
45	CHD2	chr12:124482869-124482880	K562	blood:	n/a	n/a
46	CTCF	chr12:124468820-124468970	GM12867	blood:	n/a	n/a
47	CTCF	chr12:124487800-124487950	NHEK	skin:	n/a	n/a
48	CTCF	chr12:124468480-124468630	GM12878	blood:	n/a	chr12:124468584-124468597 chr12:124468577-124468598 chr12:124468582-124468600 chr12:124468583-124468599
49	CTCF	chr12:124468371-124468752	K562	blood:	n/a	chr12:124468584-124468597 chr12:124468577-124468598 chr12:124468582-124468600 chr12:124468659-124468669 chr12:124468583-124468599
50	CTCF	chr12:124487776-124487914	A549	lung:	n/a	n/a

(count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124491432-124491482	SAEC	small airway:	n/a
2	chr12:124461296-124461346	ECC-1	luminal epithelium:	n/a
3	chr12:124492549-124492599	HAEpiC	amniotic membrane:	n/a
4	chr12:124458442-124458492	LNCaP	prostate:	n/a
5	chr12:124459490-124459540	HCF	heart:	n/a
6	chr12:124491432-124491482	PrEC	prostate:	n/a
7	chr12:124491432-124491482	AG09319	gingival:	n/a
8	chr12:124481981-124482031	A549	lung:	n/a
9	chr12:124458442-124458492	K562	blood:	n/a
10	chr12:124461296-124461346	SK-N-MC	brain:	n/a
11	chr12:124461296-124461346	HRCEpiC	kidney:	n/a
12	chr12:124491432-124491482	SKMC	muscle:	n/a
13	chr12:124458442-124458492	HNPCEpiC	eye:	n/a
14	chr12:124481981-124482031	GM12892	blood:	n/a
15	chr12:124481981-124482031	HL-60	blood:	n/a
16	chr12:124458574-124458624	HEK293	kidney:	embryo
17	chr12:124458442-124458492	IMR90	lung:	fetal
18	chr12:124481981-124482031	HEK293	kidney:	embryo
19	chr12:124492549-124492599	Jurkat	blood:	n/a
20	chr12:124459490-124459540	HCM	heart:	n/a
21	chr12:124458442-124458492	NHBE	bronchial:	n/a
22	chr12:124458442-124458492	ECC-1	luminal epithelium:	n/a
23	chr12:124459490-124459540	HEEpiC	esophagus:	n/a
24	chr12:124481981-124482031	AG04449	skin:	fetal
25	chr12:124461296-124461346	SKMC	muscle:	n/a
26	chr12:124458442-124458492	GM19239	blood:	n/a
27	chr12:124492549-124492599	GM12891	blood:	n/a
28	chr12:124492549-124492599	SKMC	muscle:	n/a
29	chr12:124459490-124459540	Hela-S3	cervix:	n/a
30	chr12:124491432-124491482	HNPCEpiC	eye:	n/a
31	chr12:124458574-124458624	AG09309	skin:	n/a
32	chr12:124481981-124482031	BJ	skin:	n/a
33	chr12:124492549-124492599	PrEC	prostate:	n/a
34	chr12:124461296-124461346	HEK293	kidney:	embryo
35	chr12:124492549-124492599	AG09319	gingival:	n/a
36	chr12:124491432-124491482	Caco-2	colon:	n/a
37	chr12:124459490-124459540	AG04450	lung:	fetal
38	chr12:124459490-124459540	HRCEpiC	kidney:	n/a
39	chr12:124458574-124458624	U87	brain:	n/a
40	chr12:124458574-124458624	RPTEC	kidney:	n/a
41	chr12:124459490-124459540	HEK293	kidney:	embryo
42	chr12:124459490-124459540	NB4	blood:	n/a
43	chr12:124458574-124458624	LNCaP	prostate:	n/a
44	chr12:124458442-124458492	PrEC	prostate:	n/a
45	chr12:124492549-124492599	ECC-1	luminal epithelium:	n/a
46	chr12:124492549-124492599	PFSK-1	brain:	n/a
47	chr12:124491432-124491482	HCM	heart:	n/a
48	chr12:124458574-124458624	PFSK-1	brain:	n/a
49	chr12:124459490-124459540	HCT-116	colon:	n/a
50	chr12:124481981-124482031	HUVEC	blood vessel:	n/a

(count:57 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:124455649..124457478-chr12:124476003..124477748,2	K562	blood:
2	chr12:124349873..124352616-chr12:124471983..124473527,2	MCF-7	breast:
3	chr12:124461201..124463907-chr12:124466692..124470119,3	MCF-7	breast:
4	chr12:124284685..124287409-chr12:124473083..124475024,2	MCF-7	breast:
5	chr12:124457604..124459142-chr12:124475055..124476708,2	MCF-7	breast:
6	chr12:124493164..124494909-chr12:124500524..124502478,2	MCF-7	breast:
7	chr12:124492436..124495836-chr12:124497804..124500865,3	K562	blood:
8	chr12:124450202..124452446-chr12:124462735..124464792,2	K562	blood:
9	chr12:124461323..124463164-chr12:124465157..124466786,2	K562	blood:
10	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
11	chr12:124450274..124453930-chr12:124454051..124458606,8	K562	blood:
12	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:
13	chr12:124485640..124488869-chr12:124491698..124495418,5	K562	blood:
14	chr12:124440660..124443329-chr12:124494503..124496915,2	K562	blood:
15	chr12:124476601..124479063-chr12:124485956..124487625,2	K562	blood:
16	chr12:124474945..124477651-chr12:124481965..124484404,2	K562	blood:
17	chr12:124442245..124448648-chr12:124455013..124459797,7	K562	blood:
18	chr12:124479682..124481544-chr16:49621973..49623955,2	MCF-7	breast:
19	chr12:124462440..124465412-chr12:124468868..124471701,4	K562	blood:
20	chr12:124292496..124294102-chr12:124468172..124469036,5	MCF-7	breast:
21	chr12:124469541..124471956-chr12:124474758..124478951,5	K562	blood:
22	chr12:124484342..124486800-chr12:124487577..124490631,4	K562	blood:
23	chr12:124490934..124492514-chr12:124492515..124494381,2	K562	blood:
24	chr12:124490934..124492514-chr12:124492515..124494381,2	K562	blood:
25	chr12:124491034..124493507-chr12:124494589..124496940,2	MCF-7	breast:
26	chr12:124285046..124286656-chr12:124466634..124468650,2	MCF-7	breast:
27	chr12:124478987..124480536-chr12:124482316..124484096,2	K562	blood:
28	chr12:124433267..124435422-chr12:124476091..124477918,2	K562	blood:
29	chr12:124462440..124465412-chr12:124468868..124471701,4	K562	blood:
30	chr12:124471751..124473354-chr12:124481862..124484429,2	K562	blood:
31	chr12:124450327..124455412-chr12:124455418..124460730,10	K562	blood:
32	chr12:124461201..124463907-chr12:124466692..124470119,3	MCF-7	breast:
33	chr12:124449321..124452195-chr12:124463375..124466375,3	MCF-7	breast:
34	chr12:124137852..124140530-chr12:124458317..124460698,2	K562	blood:
35	chr12:124466662..124469603-chr12:124471217..124474094,3	K562	blood:
36	chr12:124464712..124466327-chr12:124492500..124494762,2	K562	blood:
37	chr12:124466117..124470076-chr12:124471050..124474861,6	MCF-7	breast:
38	chr12:124476601..124479063-chr12:124485956..124487625,2	K562	blood:
39	chr12:124461323..124463164-chr12:124465157..124466786,2	K562	blood:
40	chr12:124443831..124448109-chr12:124456314..124459797,5	K562	blood:
41	chr12:124464712..124466327-chr12:124492500..124494762,2	K562	blood:
42	chr12:124468378..124471325-chr12:124481728..124484579,2	K562	blood:
43	chr12:124476672..124479275-chr12:124482107..124484649,2	MCF-7	breast:
44	chr12:124466662..124469603-chr12:124471217..124474094,3	K562	blood:
45	chr12:124455666..124458954-chr12:124482967..124486459,4	MCF-7	breast:
46	chr12:124456565..124458963-chr17:72427263..72429561,2	MCF-7	breast:
47	chr12:124457163..124461079-chr12:124477207..124479204,3	MCF-7	breast:
48	chr12:124484342..124486800-chr12:124487577..124490631,4	K562	blood:
49	chr12:124469825..124474593-chr12:124481346..124484429,4	K562	blood:
50	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAM101A-2	chr12:124482944-124483300	NONHSAT031635
2	lnc-FAM101A-2	chr12:124482325-124482392	NONHSAT031635
3	lnc-CCDC92-2	chr12:124490418-124490772	NONHSAT031636

No data

Variant related genes	Relation type
ZNF664	TF binding region
ENSG00000270095	TF binding region
CCDC92	TF binding region
ENSG00000256827	TF binding region
ENSG00000270061	TF binding region
ZNF664	CpG island
ENSG00000270095	CpG island
CCDC92	CpG island
ENSG00000256827	CpG island
ENSG00000270061	CpG island
ENSG00000270130	chromatin interactions
ENSG00000269938	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000270048	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000269997	chromatin interactions
ENSG00000170412	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000111361	chromatin interactions

Extended variants
information (count: 1319 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1319 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113545800	chr12:124458448-124458449	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
2	rs190386781	chr12:124458468-124458469	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
3	rs374021374	chr12:124458479-124458480	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
4	rs539774082	chr12:124458501-124458502	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs571735552	chr12:124458518-124458519	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs540911656	chr12:124458529-124458530	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs564444404	chr12:124458552-124458553	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs114888463	chr12:124458554-124458555	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs570766987	chr12:124458697-124458698	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs538122946	chr12:124458698-124458699	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs78766068	chr12:124458700-124458701	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs535560028	chr12:124458708-124458709	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs543614316	chr12:124458726-124458727	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs180753014	chr12:124458751-124458752	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs531864338	chr12:124458779-124458780	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs568930438	chr12:124458790-124458791	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs186009382	chr12:124458813-124458814	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs545826863	chr12:124458817-124458818	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs557457877	chr12:124458835-124458836	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs576705515	chr12:124458876-124458877	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
21	rs34300208	chr12:124458891-124458892	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
22	rs564133791	chr12:124458909-124458910	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs148652378	chr12:124458917-124458918	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
24	rs111505435	chr12:124458923-124458924	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
25	rs527729553	chr12:124458939-124458940	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
26	rs374477802	chr12:124458977-124458978	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs546807111	chr12:124458988-124458989	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs372605393	chr12:124459039-124459040	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs189775151	chr12:124459053-124459054	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs541132750	chr12:124459061-124459062	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs181433266	chr12:124459104-124459105	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs533258775	chr12:124459153-124459154	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs77881581	chr12:124459195-124459196	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs571125678	chr12:124459196-124459197	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs569929185	chr12:124459225-124459226	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs531659323	chr12:124459238-124459239	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs116015829	chr12:124459260-124459261	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs142171502	chr12:124459275-124459276	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs186069531	chr12:124459284-124459285	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs553679333	chr12:124459305-124459306	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs567936921	chr12:124459327-124459328	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs565804929	chr12:124459354-124459355	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs111617192	chr12:124459391-124459392	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs61151021	chr12:124459417-124459418	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs545344432	chr12:124459438-124459439	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs76856465	chr12:124459469-124459470	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
47	rs576849197	chr12:124459526-124459527	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
48	rs74346709	chr12:124459537-124459538	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
49	rs543718789	chr12:124459541-124459542	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
50	rs145647119	chr12:124459571-124459572	Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2282 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124454600-124459800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr12:124455000-124458600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:124455200-124459000	Active TSS	NHDF-Ad	bronchial
4	chr12:124455600-124458600	Active TSS	Osteobl	bone
5	chr12:124455600-124458800	Active TSS	HMEC	breast
6	chr12:124455600-124459000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:124455600-124459400	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr12:124455600-124459400	Active TSS	Fetal Intestine Large	intestine
9	chr12:124455800-124458600	Active TSS	Brain Anterior Caudate	brain
10	chr12:124455800-124458600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr12:124455800-124458600	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:124455800-124458600	Active TSS	Stomach Smooth Muscle	stomach
13	chr12:124455800-124458800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:124455800-124458800	Active TSS	Brain Angular Gyrus	brain
15	chr12:124455800-124458800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:124455800-124459000	Active TSS	Fetal Intestine Small	intestine
17	chr12:124456000-124458600	Active TSS	Brain Substantia Nigra	brain
18	chr12:124456000-124458600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr12:124456000-124458600	Active TSS	Psoas Muscle	Psoas
20	chr12:124456000-124458600	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:124456000-124458600	Active TSS	Thymus	Thymus
22	chr12:124456000-124458800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:124456000-124458800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:124456000-124458800	Active TSS	Aorta	Aorta
25	chr12:124456000-124458800	Active TSS	A549	lung
26	chr12:124456000-124458800	Active TSS	GM12878-XiMat	blood
27	chr12:124456000-124458800	Active TSS	HSMM	muscle
28	chr12:124456000-124458800	Active TSS	NH-A	brain
29	chr12:124456000-124459000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:124456000-124459000	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr12:124456000-124459000	Active TSS	Left Ventricle	heart
32	chr12:124456000-124459000	Active TSS	Right Ventricle	heart
33	chr12:124456000-124459200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr12:124456000-124459200	Active TSS	Brain Cingulate Gyrus	brain
35	chr12:124456000-124459200	Active TSS	Duodenum Mucosa	Duodenum
36	chr12:124456000-124459400	Active TSS	NHLF	lung
37	chr12:124456200-124458600	Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:124456200-124458600	Active TSS	Colon Smooth Muscle	Colon
39	chr12:124456200-124458800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:124456200-124458800	Active TSS	Small Intestine	intestine
41	chr12:124456200-124459000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:124456200-124459000	Active TSS	Esophagus	oesophagus
43	chr12:124456200-124459000	Active TSS	Gastric	stomach
44	chr12:124456200-124459000	Active TSS	Lung	lung
45	chr12:124456200-124459000	Active TSS	Ovary	ovary
46	chr12:124456200-124459000	Active TSS	Pancreas	Pancrea
47	chr12:124456200-124459000	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr12:124456200-124459200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:124456400-124458600	Active TSS	H9 Cell Line	embryonic stem cell
50	chr12:124456400-124458600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links