Variant report

Variant	rs531014859
Chromosome Location	chr1:152747520-152747521
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:152747480-152747630	WERI-Rb-1	eye:	n/a	chr1:152747561-152747574
2	CTCF	chr1:152747460-152747610	GM12875	blood:	n/a	chr1:152747561-152747574
3	CTCF	chr1:152747431-152747659	NHEK	skin:	n/a	chr1:152747561-152747574
4	CTCF	chr1:152747462-152747627	A549	lung:	n/a	chr1:152747561-152747574
5	CTCF	chr1:152747420-152747570	GM12865	blood:	n/a	n/a
6	CTCF	chr1:152747500-152747607	K562	blood:	n/a	chr1:152747561-152747574
7	CTCF	chr1:152747460-152747610	MCF-7	breast:	n/a	chr1:152747561-152747574
8	CTCF	chr1:152747520-152747670	HMEC	breast:	n/a	chr1:152747561-152747574
9	CTCF	chr1:152747482-152747647	Fibrobl	skin:	n/a	chr1:152747561-152747574
10	CTCF	chr1:152747444-152747652	MCF-7	breast:	n/a	chr1:152747561-152747574
11	CTCF	chr1:152747460-152747610	HepG2	liver:	n/a	chr1:152747561-152747574
12	CTCF	chr1:152747460-152747610	Caco-2	colon:	n/a	chr1:152747561-152747574
13	CTCF	chr1:152747440-152747590	A549	lung:	n/a	chr1:152747561-152747574
14	CTCF	chr1:152747420-152747570	GM12878	blood:	n/a	n/a
15	CTCF	chr1:152747520-152747670	GM12865	blood:	n/a	chr1:152747561-152747574
16	CTCF	chr1:152747480-152747630	GM12869	blood:	n/a	chr1:152747561-152747574
17	CTCF	chr1:152747480-152747630	GM12871	blood:	n/a	chr1:152747561-152747574
18	CTCF	chr1:152747500-152747650	GM12874	blood:	n/a	chr1:152747561-152747574
19	CTCF	chr1:152747420-152747570	K562	blood:	n/a	n/a
20	CTCF	chr1:152747500-152747650	HEK293	kidney:	n/a	chr1:152747561-152747574
21	CTCF	chr1:152747440-152747590	GM06990	blood:	n/a	chr1:152747561-152747574
22	CTCF	chr1:152747480-152747630	NB4	blood:	n/a	chr1:152747561-152747574
23	CTCF	chr1:152747460-152747610	WERI-Rb-1	eye:	n/a	chr1:152747561-152747574
24	CTCF	chr1:152747420-152747570	NHEK	skin:	n/a	n/a
25	CTCF	chr1:152747512-152747593	GM12878	blood:	n/a	chr1:152747561-152747574
26	FOS	chr1:152747454-152747630	MCF10A-Er-Src	breast:	n/a	n/a
27	CTCF	chr1:152747431-152747678	MCF-7	breast:	n/a	chr1:152747561-152747574
28	CTCF	chr1:152747520-152747670	HEEpiC	esophagus:	n/a	chr1:152747561-152747574
29	CTCF	chr1:152747460-152747610	HMEC	breast:	n/a	chr1:152747561-152747574
30	CTCF	chr1:152747400-152747550	GM12872	blood:	n/a	n/a
31	CTCF	chr1:152747480-152747630	A549	lung:	n/a	chr1:152747561-152747574
32	CTCF	chr1:152747460-152747610	HEEpiC	esophagus:	n/a	chr1:152747561-152747574
33	CTCF	chr1:152747499-152747596	HepG2	liver:	n/a	chr1:152747561-152747574
34	CTCF	chr1:152747520-152747670	GM06990	blood:	n/a	chr1:152747561-152747574
35	CTCF	chr1:152747474-152747603	GM12878	blood:	n/a	chr1:152747561-152747574
36	CTCF	chr1:152747500-152747650	Hela-S3	cervix:	n/a	chr1:152747561-152747574
37	CTCF	chr1:152747440-152747590	GM12865	blood:	n/a	chr1:152747561-152747574
38	CTCF	chr1:152747520-152747670	GM12873	blood:	n/a	chr1:152747561-152747574
39	CTCF	chr1:152747452-152747633	MCF-7	breast:	n/a	chr1:152747561-152747574
40	CTCF	chr1:152747460-152747610	GM12866	blood:	n/a	chr1:152747561-152747574
41	CTCF	chr1:152747500-152747650	Caco-2	colon:	n/a	chr1:152747561-152747574
42	CTCF	chr1:152747500-152747650	HCT-116	colon:	n/a	chr1:152747561-152747574
43	CTCF	chr1:152747480-152747630	HCT-116	colon:	n/a	chr1:152747561-152747574
44	CTCF	chr1:152747520-152747670	GM12872	blood:	n/a	chr1:152747561-152747574
45	CTCF	chr1:152747480-152747630	SAEC	small airway:	n/a	chr1:152747561-152747574
46	CTCF	chr1:152747453-152747635	MCF-7	breast:	n/a	chr1:152747561-152747574
47	CTCF	chr1:152747480-152747630	NHEK	skin:	n/a	chr1:152747561-152747574
48	CTCF	chr1:152747440-152747654	MCF-7	breast:	n/a	chr1:152747561-152747574
49	CTCF	chr1:152747440-152747590	GM12874	blood:	n/a	chr1:152747561-152747574
50	CTCF	chr1:152747420-152747570	GM12873	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:152747501-152747551	Jurkat	blood:	n/a
2	chr1:152747501-152747551	HL-60	blood:	n/a
3	chr1:152747472-152747522	AG04449	skin:	fetal
4	chr1:152747501-152747551	NB4	blood:	n/a
5	chr1:152747501-152747551	AG09309	skin:	n/a
6	chr1:152747472-152747522	HCM	heart:	n/a
7	chr1:152747472-152747522	K562	blood:	n/a
8	chr1:152747472-152747522	GM12892	blood:	n/a
9	chr1:152747501-152747551	ovcar-3	ovarian:	n/a
10	chr1:152747501-152747551	BJ	skin:	n/a
11	chr1:152747472-152747522	T-47D	breast:	n/a
12	chr1:152747501-152747551	HEEpiC	esophagus:	n/a
13	chr1:152747472-152747522	ovcar-3	ovarian:	n/a
14	chr1:152747472-152747522	HRPEpiC	eye:	n/a
15	chr1:152747501-152747551	GM19239	blood:	n/a
16	chr1:152747472-152747522	HL-60	blood:	n/a
17	chr1:152747501-152747551	AG10803	skin:	n/a
18	chr1:152747501-152747551	ECC-1	luminal epithelium:	n/a
19	chr1:152747472-152747522	HRE	kidney:	n/a
20	chr1:152747501-152747551	Hela-S3	cervix:	n/a
21	chr1:152747501-152747551	LNCaP	prostate:	n/a
22	chr1:152747472-152747522	NH-A	brain:	n/a
23	chr1:152747472-152747522	RPTEC	kidney:	n/a
24	chr1:152747472-152747522	Hepatocyte	liver:	n/a
25	chr1:152747501-152747551	HPAEpiC	pulmonary alveolar:	n/a
26	chr1:152747472-152747522	A549	lung:	n/a
27	chr1:152747472-152747522	HIPEpiC	eye:	n/a
28	chr1:152747501-152747551	ProgFib	skin:	n/a
29	chr1:152747472-152747522	HNPCEpiC	eye:	n/a
30	chr1:152747501-152747551	AG04450	lung:	fetal
31	chr1:152747472-152747522	AG09319	gingival:	n/a
32	chr1:152747472-152747522	U87	brain:	n/a
33	chr1:152747472-152747522	SK-N-MC	brain:	n/a
34	chr1:152747501-152747551	PANC-1	pancreas:	n/a
35	chr1:152747472-152747522	GM06990	blood:	n/a
36	chr1:152747472-152747522	MCF10A-Er-Src	breast:	n/a
37	chr1:152747501-152747551	Caco-2	colon:	n/a
38	chr1:152747501-152747551	SK-N-SH	brain:	n/a
39	chr1:152747501-152747551	HCPEpiC	choroid plexus:	n/a
40	chr1:152747501-152747551	SAEC	small airway:	n/a
41	chr1:152747501-152747551	HAEpiC	amniotic membrane:	n/a
42	chr1:152747501-152747551	T-47D	breast:	n/a
43	chr1:152747501-152747551	MCF10A-Er-Src	breast:	n/a
44	chr1:152747472-152747522	BE2_C	brain:	n/a
45	chr1:152747501-152747551	NHBE	bronchial:	n/a
46	chr1:152747472-152747522	Caco-2	colon:	n/a
47	chr1:152747472-152747522	HPAEpiC	pulmonary alveolar:	n/a
48	chr1:152747501-152747551	HRPEpiC	eye:	n/a
49	chr1:152747501-152747551	NH-A	brain:	n/a
50	chr1:152747501-152747551	GM12878	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:152745990..152747904-chr1:152750482..152752734,2	MCF-7	breast:

Variant related genes	Relation type
LCE1F	TF binding region
LCE1F	CpG island

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757755	chr1:152472839-152898153	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv2758970	chr1:152472839-152898153	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv33483	chr1:152550269-152775526	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv547891	chr1:152556085-152770446	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv427786	chr1:152572990-152898153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv1013433	chr1:152619305-153262215	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
7	nsv535170	chr1:152619305-153262215	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
8	nsv1001834	chr1:152648853-153279143	Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv428521	chr1:152663153-152831578	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv947325	chr1:152670204-152793272	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	esv34854	chr1:152671913-152756806	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv547899	chr1:152672005-153245082	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
13	esv2763813	chr1:152687058-152780522	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv508615	chr1:152724155-152787503	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
15	nsv1004884	chr1:152724514-152780522	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
16	nsv1005867	chr1:152744949-152768688	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	nsv1010895	chr1:152744949-152776743	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	nsv79	chr1:152746435-152773598	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv2910	chr1:152746435-152774414	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
20	nsv1014190	chr1:152747126-152778861	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152747000-152747800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:152747200-152747600	Enhancers	NHEK	skin
3	chr1:152747200-152747800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:152747200-152747800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:152747200-152747800	Enhancers	HMEC	breast

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