Variant report

Variant	esv3409586
Chromosome Location	chr12:49181735-49184833
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:233)
CpG islands
(count:673)
Chromatin interactive
region (count:14)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:233 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:49182913-49183022	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:49183368-49183584	HepG2	liver:	n/a	chr12:49183438-49183454
3	BACH1	chr12:49183398-49183432	H1-hESC	embryonic stem cell:	n/a	n/a
4	BHLHE40	chr12:49182530-49182730	GM12878	blood:	n/a	n/a
5	BRCA1	chr12:49183361-49183524	Hela-S3	cervix:	n/a	n/a
6	CCNT2	chr12:49182667-49182702	K562	blood:	n/a	n/a
7	CEBPB	chr12:49182949-49183057	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr12:49182631-49183132	HepG2	liver:	n/a	n/a
9	CHD2	chr12:49183312-49183501	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr12:49183384-49183446	GM12878	blood:	n/a	n/a
11	CHD2	chr12:49183261-49183594	HepG2	liver:	n/a	n/a
12	CHD2	chr12:49182327-49183683	Hela-S3	cervix:	n/a	n/a
13	CHD2	chr12:49182855-49183055	GM12878	blood:	n/a	n/a
14	CHD2	chr12:49182935-49183005	HepG2	liver:	n/a	n/a
15	CHD2	chr12:49182958-49183052	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr12:49182646-49183016	A549	lung:	n/a	n/a
17	CTBP2	chr12:49181988-49183226	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr12:49183240-49183490	BJ	skin:	n/a	chr12:49183413-49183426
19	CTCF	chr12:49183415-49183465	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr12:49182200-49182350	AG04449	skin:	n/a	n/a
21	CTCF	chr12:49183780-49183930	GM12872	blood:	n/a	n/a
22	CTCF	chr12:49182814-49182909	Kidney_OC	kidney:	n/a	n/a
23	CTCF	chr12:49183440-49183590	AG04449	skin:	n/a	n/a
24	CTCF	chr12:49183340-49183490	BJ	skin:	n/a	chr12:49183413-49183426
25	CTCF	chr12:49183380-49183481	MCF-7	breast:	n/a	chr12:49183413-49183426
26	CTCF	chr12:49183320-49183470	SAEC	small airway:	n/a	chr12:49183413-49183426
27	CTCF	chr12:49182220-49182370	SK-N-SH_RA	brain:	n/a	n/a
28	CTCF	chr12:49183360-49183510	MCF-7	breast:	n/a	chr12:49183413-49183426
29	CTCF	chr12:49183360-49183510	Hela-S3	cervix:	n/a	chr12:49183413-49183426
30	CTCF	chr12:49183371-49183497	NHEK	skin:	n/a	chr12:49183413-49183426
31	CTCF	chr12:49183620-49183770	SK-N-SH_RA	brain:	n/a	n/a
32	CTCF	chr12:49182240-49182510	SAEC	small airway:	n/a	n/a
33	CTCF	chr12:49183340-49183490	HMEC	breast:	n/a	chr12:49183413-49183426
34	CTCF	chr12:49182220-49182370	HEK293	kidney:	n/a	n/a
35	CTCF	chr12:49183395-49183462	LNCaP	prostate:	n/a	chr12:49183413-49183426
36	CTCF	chr12:49183358-49183496	MCF-7	breast:	n/a	chr12:49183413-49183426
37	CTCF	chr12:49183374-49183490	MCF-7	breast:	n/a	chr12:49183413-49183426
38	CTCF	chr12:49183360-49183510	HEEpiC	esophagus:	n/a	chr12:49183413-49183426
39	CTCF	chr12:49182860-49183010	AG04449	skin:	n/a	n/a
40	CTCF	chr12:49183340-49183490	Caco-2	colon:	n/a	chr12:49183413-49183426
41	CTCF	chr12:49182280-49182430	HBMEC	blood vessel:	n/a	n/a
42	E2F4	chr12:49183264-49183586	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F6	chr12:49183207-49183685	A549	lung:	n/a	chr12:49183592-49183602
44	EBF1	chr12:49183295-49183564	GM12878	blood:	n/a	n/a
45	EGR1	chr12:49182721-49183134	H1-hESC	embryonic stem cell:	n/a	chr12:49183053-49183063 chr12:49183052-49183065 chr12:49182954-49182967
46	EGR1	chr12:49182786-49182963	K562	blood:	n/a	n/a
47	EGR1	chr12:49182743-49183043	H1-hESC	embryonic stem cell:	n/a	chr12:49182954-49182967
48	EGR1	chr12:49182585-49182855	K562	blood:	n/a	n/a
49	EP300	chr12:49182770-49183082	H1-hESC	embryonic stem cell:	n/a	n/a
50	EP300	chr12:49183442-49183480	GM12878	blood:	n/a	n/a

(count:673 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:49182586-49182636	PFSK-1	brain:	n/a
2	chr12:49182479-49182529	PFSK-1	brain:	n/a
3	chr12:49182586-49182636	PFSK-1	brain:	n/a
4	chr12:49182479-49182529	PFSK-1	brain:	n/a
5	chr12:49183131-49183181	SK-N-MC	brain:	n/a
6	chr12:49183468-49183518	HNPCEpiC	eye:	n/a
7	chr12:49183212-49183262	HEK293	kidney:	embryo
8	chr12:49182847-49182897	HepG2	liver:	n/a
9	chr12:49183018-49183068	HNPCEpiC	eye:	n/a
10	chr12:49182847-49182897	AG09319	gingival:	n/a
11	chr12:49182847-49182897	H1-hESC	embryonic stem cell:	embryo
12	chr12:49182479-49182529	AG04450	lung:	fetal
13	chr12:49182566-49182616	Hela-S3	cervix:	n/a
14	chr12:49182847-49182897	ECC-1	luminal epithelium:	n/a
15	chr12:49183018-49183068	AG09309	skin:	n/a
16	chr12:49183133-49183183	HRCEpiC	kidney:	n/a
17	chr12:49183468-49183518	H1-hESC	embryonic stem cell:	embryo
18	chr12:49183018-49183068	LNCaP	prostate:	n/a
19	chr12:49182908-49182958	PrEC	prostate:	n/a
20	chr12:49183018-49183068	HRCEpiC	kidney:	n/a
21	chr12:49182847-49182897	PFSK-1	brain:	n/a
22	chr12:49183131-49183181	HRPEpiC	eye:	n/a
23	chr12:49182586-49182636	HMEC	breast:	n/a
24	chr12:49183133-49183183	SAEC	small airway:	n/a
25	chr12:49183212-49183262	BE2_C	brain:	n/a
26	chr12:49182908-49182958	SK-N-SH_RA	brain:	n/a
27	chr12:49182908-49182958	HEEpiC	esophagus:	n/a
28	chr12:49182908-49182958	AG09319	gingival:	n/a
29	chr12:49183212-49183262	A549	lung:	n/a
30	chr12:49182566-49182616	ovcar-3	ovarian:	n/a
31	chr12:49182479-49182529	AoSMC	blood vessel:	n/a
32	chr12:49182847-49182897	PrEC	prostate:	n/a
33	chr12:49183133-49183183	T-47D	breast:	n/a
34	chr12:49183212-49183262	K562	blood:	n/a
35	chr12:49182837-49182887	A549	lung:	n/a
36	chr12:49182566-49182616	Caco-2	colon:	n/a
37	chr12:49182847-49182897	NH-A	brain:	n/a
38	chr12:49183133-49183183	HUVEC	blood vessel:	n/a
39	chr12:49182566-49182616	HRCEpiC	kidney:	n/a
40	chr12:49183018-49183068	HRE	kidney:	n/a
41	chr12:49183131-49183181	BE2_C	brain:	n/a
42	chr12:49182479-49182529	HL-60	blood:	n/a
43	chr12:49182586-49182636	AG09319	gingival:	n/a
44	chr12:49182586-49182636	BJ	skin:	n/a
45	chr12:49183212-49183262	Jurkat	blood:	n/a
46	chr12:49183018-49183068	BJ	skin:	n/a
47	chr12:49183468-49183518	HCF	heart:	n/a
48	chr12:49182479-49182529	PrEC	prostate:	n/a
49	chr12:49182566-49182616	HRE	kidney:	n/a
50	chr12:49182837-49182887	HRE	kidney:	n/a

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:49179602..49181773-chr12:49197914..49199450,2	K562	blood:
2	chr12:49183065..49183767-chr12:49208148..49208948,2	MCF-7	breast:
3	chr12:49074245..49078609-chr12:49180778..49182867,4	MCF-7	breast:
4	chr12:49108937..49110842-chr12:49180917..49183089,2	MCF-7	breast:
5	chr12:49175402..49178124-chr12:49180679..49183666,2	K562	blood:
6	chr12:49158067..49160355-chr12:49182073..49184026,2	MCF-7	breast:
7	chr12:49183691..49185359-chr12:49187187..49189450,2	K562	blood:
8	chr12:49110036..49111681-chr12:49181615..49184278,2	MCF-7	breast:
9	chr12:49165064..49172292-chr12:49177951..49185171,13	MCF-7	breast:
10	chr12:49180246..49182305-chr12:49186657..49190531,5	MCF-7	breast:
11	chr12:49182132..49185770-chr12:49202933..49205906,3	MCF-7	breast:
12	chr12:49178102..49185044-chr12:49204782..49211867,14	MCF-7	breast:
13	chr12:49180478..49186692-chr12:49206898..49214052,14	MCF-7	breast:
14	chr12:49074389..49076545-chr12:49180456..49183753,3	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNB3-1	chr12:49183768-49183902	ENSG00000257660
2	lnc-CACNB3-1	chr12:49182930-49183010	ENSG00000257660
3	lnc-CACNB3-1	chr12:49184096-49184307	NONHSAT028028
4	lnc-CACNB3-1	chr12:49183768-49183902	ENSG00000257660
5	lnc-CACNB3-1	chr12:49183785-49183902	XLOC_009738
6	lnc-CACNB3-1	chr12:49183359-49183473	ENSG00000257660
7	lnc-CACNB3-1	chr12:49184096-49184350	XLOC_009738
8	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660
9	lnc-CACNB3-1	chr12:49184096-49184318	ENSG00000257660
10	lnc-CACNB3-1	chr12:49183649-49183902	NONHSAT028028
11	lnc-DDX23-2	chr12:49181492-49181864	NONHSAT028025

No data

Variant related genes	Relation type
ADCY6	TF binding region
ENSG00000257660	TF binding region
ADCY6	CpG island
ENSG00000257660	CpG island
ENSG00000174233	chromatin interactions
ENSG00000129315	chromatin interactions
ENSG00000139620	chromatin interactions
ENSG00000207467	chromatin interactions
ENSG00000257653	chromatin interactions
ENSG00000264201	chromatin interactions
ENSG00000167535	chromatin interactions
RRM2	miRNA target sites
SLC30A9	miRNA target sites

Extended variants
information (count: 92 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142599679	chr12:49181745-49181746	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
2	rs563598859	chr12:49181760-49181761	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
3	rs77849957	chr12:49181800-49181801	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
4	rs528856946	chr12:49181822-49181823	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
5	rs144510422	chr12:49181823-49181824	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	7 gene(s)	Overlapped CNVs	n/a
6	rs113964166	chr12:49181871-49181872	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs534132684	chr12:49181882-49181883	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs61943201	chr12:49181883-49181884	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs146387617	chr12:49181905-49181906	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs570004882	chr12:49181914-49181915	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs546188383	chr12:49181923-49181924	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs537559847	chr12:49181927-49181928	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs562896003	chr12:49181946-49181947	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs552050674	chr12:49181949-49181950	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs575597767	chr12:49181956-49181957	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs544538025	chr12:49181991-49181992	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs570680303	chr12:49182023-49182024	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs534841213	chr12:49182024-49182025	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs529851978	chr12:49182040-49182041	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs369153214	chr12:49182074-49182075	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
21	rs373616743	chr12:49182098-49182099	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
22	rs553287918	chr12:49182145-49182146	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs574826427	chr12:49182178-49182179	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs532098788	chr12:49182193-49182194	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs527727500	chr12:49182194-49182195	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs568553200	chr12:49182245-49182246	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs142975307	chr12:49182310-49182311	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs548816231	chr12:49182377-49182378	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs367989621	chr12:49182499-49182500	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
30	rs568668404	chr12:49182518-49182519	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs181861837	chr12:49182559-49182560	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs554091361	chr12:49182571-49182572	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs68003719	chr12:49182576-49182577	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs539971588	chr12:49182618-49182619	Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs556589929	chr12:49182826-49182827	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs576553707	chr12:49182857-49182858	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs552601907	chr12:49182933-49182934	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
38	rs554810231	chr12:49182955-49182956	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
39	rs574659502	chr12:49183087-49183088	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
40	rs111784849	chr12:49183136-49183137	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
41	rs77559288	chr12:49183200-49183201	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
42	rs559945426	chr12:49183212-49183213	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
43	rs146110163	chr12:49183228-49183229	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
44	rs545539533	chr12:49183307-49183308	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
45	rs148430455	chr12:49183343-49183344	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
46	rs531168501	chr12:49183360-49183361	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
47	rs10711161	chr12:49183367-49183368	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
48	rs368203782	chr12:49183520-49183521	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs547890174	chr12:49183556-49183557	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs568706174	chr12:49183610-49183611	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
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
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
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	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
Cancer	17160897	CNVD

Chromatin state (count:491 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:49180200-49181800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr12:49180400-49182000	Enhancers	Spleen	Spleen
3	chr12:49180400-49182200	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr12:49180400-49182400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr12:49180600-49181800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:49180600-49182200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:49180600-49182200	Flanking Active TSS	Duodenum Mucosa	Duodenum
8	chr12:49180800-49181800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:49180800-49181800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:49180800-49181800	Flanking Active TSS	Esophagus	oesophagus
11	chr12:49180800-49181800	Flanking Active TSS	Fetal Intestine Large	intestine
12	chr12:49180800-49182000	Flanking Active TSS	Osteobl	bone
13	chr12:49180800-49182200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:49180800-49182200	Flanking Active TSS	Brain Cingulate Gyrus	brain
15	chr12:49180800-49182200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr12:49180800-49182200	Flanking Active TSS	Hela-S3	cervix
17	chr12:49180800-49182400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
18	chr12:49180800-49182600	Flanking Active TSS	Fetal Muscle Leg	muscle
19	chr12:49181000-49181800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:49181000-49181800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr12:49181000-49181800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:49181000-49181800	Flanking Active TSS	Brain Angular Gyrus	brain
23	chr12:49181000-49181800	Flanking Active TSS	Colon Smooth Muscle	Colon
24	chr12:49181000-49181800	Flanking Active TSS	Left Ventricle	heart
25	chr12:49181000-49181800	Flanking Active TSS	Ovary	ovary
26	chr12:49181000-49181800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr12:49181000-49181800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:49181000-49181800	Flanking Active TSS	Right Ventricle	heart
29	chr12:49181000-49181800	Flanking Active TSS	NHLF	lung
30	chr12:49181000-49182000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:49181000-49182000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr12:49181000-49182000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:49181000-49182000	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr12:49181000-49182000	Flanking Active TSS	Colonic Mucosa	Colon
35	chr12:49181000-49182000	Flanking Active TSS	Pancreas	Pancrea
36	chr12:49181000-49182000	Flanking Active TSS	HepG2	liver
37	chr12:49181000-49182200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:49181000-49182200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr12:49181000-49182200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr12:49181000-49182200	Flanking Active TSS	Fetal Brain Female	brain
41	chr12:49181000-49182200	Flanking Active TSS	Fetal Stomach	stomach
42	chr12:49181000-49182200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr12:49181000-49182400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr12:49181200-49181800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr12:49181200-49181800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:49181200-49181800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:49181200-49181800	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr12:49181200-49181800	Flanking Active TSS	A549	lung
49	chr12:49181200-49181800	Flanking Active TSS	HMEC	breast
50	chr12:49181200-49182000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links