Variant report

Variant	rs28450156
Chromosome Location	chr7:5217434-5217435
allele	A/C
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	chr7:5217407-5217442	K562	blood:	n/a	n/a
2	JUND	chr7:5216465-5217730	SK-N-SH	brain:	n/a	chr7:5216863-5216872
3	CTCF	chr7:5217381-5217474	K562	blood:	n/a	n/a
4	CTCF	chr7:5217380-5217530	K562	blood:	n/a	n/a
5	TEAD4	chr7:5217349-5217721	K562	blood:	n/a	n/a
6	CTCF	chr7:5217406-5217476	GM12878	blood:	n/a	n/a
7	CTCF	chr7:5217352-5217508	HepG2	liver:	n/a	n/a
8	CTCF	chr7:5217364-5217483	HepG2	liver:	n/a	n/a
9	CTCF	chr7:5217390-5217530	GM12878	blood:	n/a	n/a
10	CTCF	chr7:5217380-5217530	HepG2	liver:	n/a	n/a
11	CTCF	chr7:5217300-5217450	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:5216983..5218598-chr7:5222861..5224783,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-215P	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10225429	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10225919	1.00[AMR][1000 genomes]
rs10242373	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243571	1.00[AMR][1000 genomes]
rs10245417	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10249285	1.00[AMR][1000 genomes]
rs10252983	1.00[AMR][1000 genomes]
rs10253380	1.00[AMR][1000 genomes]
rs10270945	1.00[AMR][1000 genomes]
rs10273014	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10279924	1.00[AMR][1000 genomes]
rs28411908	1.00[AMR][1000 genomes]
rs28447119	1.00[AMR][1000 genomes]
rs28461705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545115	1.00[AMR][1000 genomes]
rs57623288	1.00[AMR][1000 genomes]
rs6979367	1.00[AMR][1000 genomes]
rs73316646	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530968	chr7:4572250-5418004	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1031697	chr7:4677463-5241790	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv538704	chr7:4677463-5241790	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
5	nsv1029430	chr7:5053887-5223583	Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
7	nsv1031007	chr7:5101766-5262695	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv916396	chr7:5128917-5370805	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv605982	chr7:5133219-5222956	Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
11	nsv1015639	chr7:5209510-5255399	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5214200-5222800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:5216400-5218600	Enhancers	Liver	Liver
3	chr7:5216600-5217600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr7:5216600-5217600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:5216600-5217600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:5216600-5217600	Enhancers	Placenta	Placenta
7	chr7:5216600-5217600	Enhancers	NH-A	brain
8	chr7:5216600-5217600	Enhancers	NHLF	lung
9	chr7:5217000-5217600	Enhancers	Adipose Nuclei	Adipose
10	chr7:5217000-5217600	Enhancers	Brain Substantia Nigra	brain
11	chr7:5217000-5217600	Enhancers	Fetal Muscle Leg	muscle
12	chr7:5217000-5217600	Enhancers	K562	blood
13	chr7:5217000-5217800	Enhancers	Hela-S3	cervix
14	chr7:5217000-5218400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr7:5217000-5219400	Weak transcription	Fetal Brain Male	brain
16	chr7:5217200-5217600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:5217200-5217800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:5217200-5218400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:5217200-5218600	Enhancers	Osteobl	bone
20	chr7:5217200-5220800	Enhancers	HepG2	liver

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