Variant report

Variant	rs533828223
Chromosome Location	chr1:79788516-79788517
allele	C/T
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	FOS	chr1:79788486-79789625	MCF10A-Er-Src	breast:	n/a	chr1:79789179-79789190 chr1:79789178-79789187 chr1:79789178-79789185
2	CTCF	chr1:79788380-79788530	HRPEpiC	eye:	n/a	n/a
3	GATA3	chr1:79788219-79789429	SK-N-SH	brain:	n/a	chr1:79789366-79789373 chr1:79789366-79789373 chr1:79789365-79789375 chr1:79789179-79789188 chr1:79789366-79789373 chr1:79789363-79789373 chr1:79788389-79788406 chr1:79789366-79789375 chr1:79789359-79789380 chr1:79789367-79789384
4	CTCF	chr1:79788380-79788530	AG04450	lung:	n/a	n/a
5	CTCF	chr1:79788420-79788570	HRE	kidney:	n/a	n/a
6	CTCF	chr1:79788440-79788590	GM12872	blood:	n/a	n/a
7	CTCF	chr1:79788400-79788550	HMF	breast:	n/a	n/a
8	CTCF	chr1:79788380-79788530	HPAF	blood vessel:	n/a	n/a
9	CTCF	chr1:79788380-79788530	HMF	breast:	n/a	n/a
10	CTCF	chr1:79788400-79788550	AG09319	gingival:	n/a	n/a
11	CTCF	chr1:79788420-79788570	HEK293	kidney:	n/a	n/a
12	GATA3	chr1:79788203-79789523	SK-N-SH	brain:	n/a	chr1:79789366-79789373 chr1:79789366-79789373 chr1:79789365-79789375 chr1:79789179-79789188 chr1:79789366-79789373 chr1:79789363-79789373 chr1:79788389-79788406 chr1:79789366-79789375 chr1:79789359-79789380 chr1:79789367-79789384
13	CTCF	chr1:79788360-79788570	HAc	cerebellar:	n/a	n/a
14	CTCF	chr1:79788440-79788590	GM12868	blood:	n/a	n/a
15	CTCF	chr1:79788420-79788570	NHLF	lung:	n/a	n/a
16	CTCF	chr1:79788440-79788590	GM12866	blood:	n/a	n/a
17	CTCF	chr1:79788480-79788630	HPF	lung:	n/a	n/a
18	CTCF	chr1:79788400-79788550	GM12874	blood:	n/a	n/a
19	CTCF	chr1:79788420-79788570	GM12875	blood:	n/a	n/a
20	CTCF	chr1:79788480-79788630	NHDF-neo	bronchial:	n/a	n/a
21	CTCF	chr1:79788400-79788550	AG04449	skin:	n/a	n/a
22	CTCF	chr1:79788460-79788610	HBMEC	blood vessel:	n/a	n/a
23	CTCF	chr1:79788380-79788530	BJ	skin:	n/a	n/a
24	CTCF	chr1:79788303-79788669	IMR90	lung:	n/a	n/a
25	CTCF	chr1:79788440-79788590	HVMF	connective:	n/a	n/a
26	CTCF	chr1:79788480-79788630	HCM	heart:	n/a	n/a
27	CTCF	chr1:79788374-79788528	Gliobla	brain:	n/a	n/a
28	CTCF	chr1:79788440-79788590	AG04450	lung:	n/a	n/a
29	CTCF	chr1:79788440-79788590	HFF-Myc	foreskin:	n/a	n/a
30	CTCF	chr1:79788460-79788610	HCPEpiC	choroid plexus:	n/a	n/a
31	CEBPB	chr1:79788426-79789597	IMR90	lung:	n/a	chr1:79789162-79789173
32	CTCF	chr1:79788500-79788650	HFF	foreskin:	n/a	n/a

Variant related genes	Relation type
ENSG00000235011	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv871182	chr1:79614989-79822735	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv870962	chr1:79755185-79835066	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv3364783	chr1:79786074-79815088	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv3384616	chr1:79788134-79814492	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79788000-79788600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr1:79788000-79789800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:79788000-79789800	Enhancers	NHDF-Ad	bronchial
4	chr1:79788200-79788600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:79788200-79789600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:79788200-79789600	Enhancers	Hela-S3	cervix
7	chr1:79788200-79790000	Enhancers	NHLF	lung
8	chr1:79788400-79788600	Enhancers	NH-A	brain
9	chr1:79788400-79788800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:79788400-79789600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:79788400-79789600	Enhancers	Osteobl	bone
12	chr1:79788400-79789800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr1:79788400-79789800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:79788400-79789800	Enhancers	HMEC	breast

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