Variant report

Variant	esv3413770
Chromosome Location	chr12:118808569-118812117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:619)
CpG islands
(count:916)
Chromatin interactive
region (count:21)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:118809182-118809184	K562	blood:	n/a	n/a
2	ARID3A	chr12:118810578-118811876	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:118808416-118809065	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:118810643-118811180	K562	blood:	n/a	n/a
5	ATF1	chr12:118810712-118811080	K562	blood:	n/a	n/a
6	ATF2	chr12:118810637-118811211	GM12878	blood:	n/a	n/a
7	ATF2	chr12:118810570-118811163	GM12878	blood:	n/a	n/a
8	BACH1	chr12:118810443-118810777	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr12:118810384-118811313	A549	lung:	n/a	chr12:118810673-118810686 chr12:118810676-118810689 chr12:118810679-118810692 chr12:118810678-118810687 chr12:118810672-118810685 chr12:118810694-118810703 chr12:118810643-118810656
10	BCLAF1	chr12:118810392-118811149	GM12878	blood:	n/a	chr12:118810673-118810686 chr12:118810676-118810689 chr12:118810679-118810692 chr12:118810678-118810687 chr12:118810672-118810685 chr12:118810694-118810703 chr12:118810643-118810656
11	BHLHE40	chr12:118810518-118811112	K562	blood:	n/a	chr12:118810679-118810695 chr12:118810673-118810689 chr12:118810676-118810692
12	BHLHE40	chr12:118810306-118811576	GM12878	blood:	n/a	chr12:118810679-118810695 chr12:118810673-118810689 chr12:118810676-118810692
13	BHLHE40	chr12:118810459-118811205	HepG2	liver:	n/a	chr12:118810679-118810695 chr12:118810673-118810689 chr12:118810676-118810692
14	BRCA1	chr12:118810470-118810648	HepG2	liver:	n/a	n/a
15	BRCA1	chr12:118810473-118811064	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr12:118810859-118810964	HepG2	liver:	n/a	n/a
17	CBX3	chr12:118810708-118811026	K562	blood:	n/a	n/a
18	CBX3	chr12:118810509-118811189	K562	blood:	n/a	n/a
19	CCNT2	chr12:118810272-118811175	K562	blood:	n/a	n/a
20	CCNT2	chr12:118809119-118809894	K562	blood:	n/a	n/a
21	CEBPB	chr12:118810824-118811122	HepG2	liver:	n/a	n/a
22	CEBPB	chr12:118810858-118811592	K562	blood:	n/a	chr12:118811352-118811363
23	CEBPB	chr12:118810635-118811211	Hela-S3	cervix:	n/a	n/a
24	CEBPD	chr12:118810769-118811140	HepG2	liver:	n/a	n/a
25	CEBPD	chr12:118810861-118811127	HepG2	liver:	n/a	n/a
26	CEBPD	chr12:118810474-118810735	HepG2	liver:	n/a	n/a
27	CHD1	chr12:118810935-118811268	GM12878	blood:	n/a	n/a
28	CHD1	chr12:118810495-118810671	GM12878	blood:	n/a	n/a
29	CHD2	chr12:118810482-118811297	GM12878	blood:	n/a	chr12:118810750-118810760
30	CHD2	chr12:118810597-118811035	HepG2	liver:	n/a	chr12:118810750-118810760
31	CHD2	chr12:118810905-118811098	K562	blood:	n/a	n/a
32	CHD2	chr12:118810442-118810694	K562	blood:	n/a	n/a
33	CHD2	chr12:118810430-118811173	Hela-S3	cervix:	n/a	chr12:118810750-118810760
34	CREB1	chr12:118810293-118811242	HepG2	liver:	n/a	n/a
35	CREB1	chr12:118810377-118811107	A549	lung:	n/a	n/a
36	CREB1	chr12:118810769-118811018	A549	lung:	n/a	n/a
37	CREB1	chr12:118810269-118811216	GM12878	blood:	n/a	n/a
38	CTCF	chr12:118810420-118810570	HMEC	breast:	n/a	chr12:118810458-118810466
39	CTCF	chr12:118810460-118810610	NHEK	skin:	n/a	n/a
40	CTCF	chr12:118809260-118809410	HCPEpiC	choroid plexus:	n/a	n/a
41	CTCF	chr12:118810822-118811137	Spleen_OC	spleen:	n/a	n/a
42	CTCF	chr12:118810440-118810590	Caco-2	colon:	n/a	chr12:118810458-118810466
43	CTCF	chr12:118810549-118811055	GM12878	blood:	n/a	chr12:118810776-118810789 chr12:118810707-118810720
44	CTCF	chr12:118810880-118811030	NHDF-neo	bronchial:	n/a	n/a
45	CTCF	chr12:118810637-118810764	Spleen_OC	spleen:	n/a	chr12:118810707-118810720
46	CTCF	chr12:118810567-118810986	K562	blood:	n/a	chr12:118810776-118810789 chr12:118810707-118810720
47	CTCF	chr12:118810815-118810958	Lung_OC	lung:	n/a	n/a
48	CTCF	chr12:118810400-118810550	AG04449	skin:	n/a	chr12:118810458-118810466
49	CUX1	chr12:118810566-118811231	K562	blood:	n/a	n/a
50	CUX1	chr12:118810575-118811179	GM12878	blood:	n/a	n/a

(count:916 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:118811074-118811124	T-47D	breast:	n/a
2	chr12:118811074-118811124	T-47D	breast:	n/a
3	chr12:118811074-118811124	NH-A	brain:	n/a
4	chr12:118810744-118810794	GM12891	blood:	n/a
5	chr12:118810744-118810794	Hela-S3	cervix:	n/a
6	chr12:118810744-118810794	GM19239	blood:	n/a
7	chr12:118809325-118809375	NH-A	brain:	n/a
8	chr12:118810863-118810913	AG09319	gingival:	n/a
9	chr12:118809462-118809512	PrEC	prostate:	n/a
10	chr12:118810441-118810491	IMR90	lung:	fetal
11	chr12:118810958-118811008	LNCaP	prostate:	n/a
12	chr12:118811062-118811112	HCT-116	colon:	n/a
13	chr12:118810436-118810486	PANC-1	pancreas:	n/a
14	chr12:118810441-118810491	HCF	heart:	n/a
15	chr12:118810436-118810486	GM12891	blood:	n/a
16	chr12:118810441-118810491	LNCaP	prostate:	n/a
17	chr12:118809648-118809698	MCF10A-Er-Src	breast:	n/a
18	chr12:118810789-118810839	PFSK-1	brain:	n/a
19	chr12:118811020-118811070	HCT-116	colon:	n/a
20	chr12:118810958-118811008	HCM	heart:	n/a
21	chr12:118810441-118810491	AG04449	skin:	fetal
22	chr12:118809462-118809512	HMEC	breast:	n/a
23	chr12:118811062-118811112	ProgFib	skin:	n/a
24	chr12:118809325-118809375	Caco-2	colon:	n/a
25	chr12:118810863-118810913	BJ	skin:	n/a
26	chr12:118811074-118811124	NHDF-neo	bronchial:	n/a
27	chr12:118810773-118810823	PrEC	prostate:	n/a
28	chr12:118810441-118810491	MCF10A-Er-Src	breast:	n/a
29	chr12:118809462-118809512	SKMC	muscle:	n/a
30	chr12:118810763-118810813	SK-N-SH_RA	brain:	n/a
31	chr12:118811020-118811070	HCPEpiC	choroid plexus:	n/a
32	chr12:118810789-118810839	SK-N-MC	brain:	n/a
33	chr12:118809462-118809512	CMK	blood:	n/a
34	chr12:118810750-118810800	NT2-D1	testis:	n/a
35	chr12:118810441-118810491	GM12892	blood:	n/a
36	chr12:118810750-118810800	HCM	heart:	n/a
37	chr12:118809648-118809698	AG04450	lung:	fetal
38	chr12:118810744-118810794	SK-N-MC	brain:	n/a
39	chr12:118810773-118810823	A549	lung:	n/a
40	chr12:118810763-118810813	HCT-116	colon:	n/a
41	chr12:118811074-118811124	HAEpiC	amniotic membrane:	n/a
42	chr12:118809462-118809512	U87	brain:	n/a
43	chr12:118811062-118811112	MCF10A-Er-Src	breast:	n/a
44	chr12:118809462-118809512	HUVEC	blood vessel:	n/a
45	chr12:118809325-118809375	SKMC	muscle:	n/a
46	chr12:118810773-118810823	HCM	heart:	n/a
47	chr12:118810789-118810839	SKMC	muscle:	n/a
48	chr12:118810958-118811008	SKMC	muscle:	n/a
49	chr12:118810441-118810491	SK-N-SH	brain:	n/a
50	chr12:118810789-118810839	BJ	skin:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:118789693..118801109-chr12:118805205..118813455,21	K562	blood:
2	chr12:118751783..118754702-chr12:118810776..118812505,2	K562	blood:
3	chr12:118810564..118811520-chr17:37895768..37896672,2	Hela-S3	cervix:
4	chr12:118810213..118810955-chr16:2205143..2205838,2	NB4	blood:
5	chr12:118638724..118640594-chr12:118810784..118812979,2	K562	blood:
6	chr12:118601731..118605413-chr12:118811549..118815749,6	MCF-7	breast:
7	chr12:118612128..118614340-chr12:118811467..118813100,2	MCF-7	breast:
8	chr12:6862398..6862976-chr12:118810719..118811300,2	HCT-116	colon:
9	chr12:118558717..118560861-chr12:118811542..118813614,2	K562	blood:
10	chr12:118791019..118798938-chr12:118809011..118813946,9	MCF-7	breast:
11	chr12:118792933..118800473-chr12:118805927..118813309,24	K562	blood:
12	chr12:118810369..118811334-chr3:49058449..49058968,2	NB4	blood:
13	chr12:118602929..118605254-chr12:118810718..118812251,2	K562	blood:
14	chr12:118765311..118767097-chr12:118807777..118809983,2	K562	blood:
15	chr12:118810455..118810963-chr9:19049262..19049813,2	NB4	blood:
16	chr12:118577698..118580180-chr12:118811113..118813216,2	MCF-7	breast:
17	chr12:118674302..118676883-chr12:118810896..118813058,3	MCF-7	breast:
18	chr12:118573102..118576254-chr12:118808901..118815960,7	MCF-7	breast:
19	chr12:118604051..118606436-chr12:118810994..118813151,2	MCF-7	breast:
20	chr12:118666340..118669274-chr12:118811225..118812911,2	MCF-7	breast:
21	chr12:118670146..118671959-chr12:118810899..118813142,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VSIG10-4	chr12:118810453-118810698	NONHSAT031036

No data

Variant related genes	Relation type
SUDS3	TF binding region
TAOK3	TF binding region
SUDS3	CpG island
TAOK3	CpG island
ENSG00000089693	chromatin interactions
ENSG00000089220	chromatin interactions
ENSG00000155876	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000131653	chromatin interactions
ENSG00000260260	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000221280	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000141738	chromatin interactions
ENSG00000135090	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	rs548119864	chr12:118808575-118808576	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs192622424	chr12:118808662-118808663	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs488169	chr12:118808681-118808682	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs368686885	chr12:118808707-118808708	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs541491459	chr12:118808718-118808719	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142263955	chr12:118808761-118808762	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs150871259	chr12:118808763-118808764	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs519480	chr12:118808766-118808767	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs552634447	chr12:118808810-118808811	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs540584031	chr12:118808835-118808836	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566315719	chr12:118808911-118808912	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs569160318	chr12:118808982-118808983	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs555326793	chr12:118809013-118809014	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs79638503	chr12:118809036-118809037	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs537718903	chr12:118809109-118809110	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs368209164	chr12:118809112-118809113	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs55929628	chr12:118809137-118809138	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs576727902	chr12:118809193-118809194	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs545627066	chr12:118809197-118809198	Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs559016359	chr12:118809211-118809212	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs532599220	chr12:118809226-118809227	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs546422349	chr12:118809227-118809228	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs55851127	chr12:118809278-118809279	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs531722554	chr12:118809290-118809291	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs514826	chr12:118809303-118809304	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs55747748	chr12:118809336-118809337	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371931486	chr12:118809341-118809342	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs78708868	chr12:118809342-118809343	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs561510449	chr12:118809353-118809354	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs182881704	chr12:118809409-118809410	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs35647879	chr12:118809472-118809473	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs372043392	chr12:118809485-118809486	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs76842574	chr12:118809594-118809595	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs555163285	chr12:118809611-118809612	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs188821101	chr12:118809802-118809803	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs552422499	chr12:118809828-118809829	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs56324376	chr12:118809939-118809940	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs535095860	chr12:118809998-118809999	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs548819476	chr12:118810027-118810028	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs568631823	chr12:118810062-118810063	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs537349719	chr12:118810095-118810096	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs557631750	chr12:118810106-118810107	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs576806819	chr12:118810172-118810173	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs539404341	chr12:118810216-118810217	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs552679537	chr12:118810244-118810245	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs572618039	chr12:118810391-118810392	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs149622910	chr12:118810476-118810477	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
48	rs116554134	chr12:118810541-118810542	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
49	rs575391653	chr12:118810615-118810616	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a
50	rs544219314	chr12:118810647-118810648	Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	10 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Autism	22495311	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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118794800-118809000	Weak transcription	Lung	lung
2	chr12:118794800-118809000	Weak transcription	Pancreas	Pancrea
3	chr12:118794800-118809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:118794800-118809200	Weak transcription	Esophagus	oesophagus
5	chr12:118795600-118808600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:118797600-118808600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:118797600-118808600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:118798800-118808600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr12:118799200-118808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:118799200-118808600	Weak transcription	NH-A	brain
11	chr12:118799200-118809000	Weak transcription	HSMM	muscle
12	chr12:118801800-118809000	Weak transcription	Gastric	stomach
13	chr12:118801800-118809000	Weak transcription	Left Ventricle	heart
14	chr12:118802400-118808600	Weak transcription	Brain Angular Gyrus	brain
15	chr12:118803000-118808800	Weak transcription	Right Ventricle	heart
16	chr12:118803200-118808600	Weak transcription	HUVEC	blood vessel
17	chr12:118804800-118809000	Weak transcription	Spleen	Spleen
18	chr12:118806000-118808600	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr12:118806200-118809000	Weak transcription	Psoas Muscle	Psoas
20	chr12:118806600-118809000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:118806800-118809000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
22	chr12:118807000-118809200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:118807200-118808600	Enhancers	Brain Hippocampus Middle	brain
24	chr12:118807200-118809400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr12:118807200-118811400	Active TSS	NHDF-Ad	bronchial
26	chr12:118807400-118808600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr12:118807600-118808800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:118807800-118808800	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:118808000-118808600	Enhancers	Liver	Liver
30	chr12:118808000-118808800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
31	chr12:118808000-118808800	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr12:118808000-118808800	Flanking Active TSS	GM12878-XiMat	blood
33	chr12:118808000-118809000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr12:118808000-118809000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr12:118808000-118809200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:118808000-118809400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr12:118808000-118811400	Active TSS	NHLF	lung
38	chr12:118808200-118808600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr12:118808200-118808600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:118808200-118808600	Enhancers	Rectal Smooth Muscle	rectum
41	chr12:118808200-118808800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr12:118808200-118808800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:118808200-118808800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr12:118808200-118808800	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr12:118808200-118809000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr12:118808200-118809200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr12:118808200-118809600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:118808200-118810000	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr12:118808400-118808600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
50	chr12:118808400-118808600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell

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