Variant report

Variant	rs4926858
Chromosome Location	chr1:47875627-47875628
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	MXI1	chr1:47874469-47876385	IMR90	lung:	n/a	n/a
2	CEBPB	chr1:47874941-47875742	IMR90	lung:	n/a	chr1:47875590-47875603
3	RCOR1	chr1:47874608-47875740	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47874710..47877626-chr1:47877641..47879603,2	MCF-7	breast:
2	chr1:47873301..47878358-chr1:47879948..47882876,5	K562	blood:

Variant related genes	Relation type
ENSG00000225762	TF binding region
ENSG00000186790	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10789508	0.89[AMR][1000 genomes]
rs12031011	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12035995	0.92[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.94[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12036198	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12046016	0.86[AMR][1000 genomes]
rs12404237	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17103251	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17103253	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3814005	1.00[CEU][hapmap];0.85[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4600090	0.83[GIH][hapmap]
rs4926865	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4926870	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4926871	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs533894	0.82[AMR][1000 genomes]
rs6665045	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6666370	1.00[CEU][hapmap];0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap]
rs6673789	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6674100	0.93[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6689636	0.89[AMR][1000 genomes]
rs6690084	0.83[GIH][hapmap]
rs6697911	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72902514	0.89[AMR][1000 genomes]
rs870357	0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871961	chr1:47875627-47912628	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47872400-47877800	Enhancers	Osteobl	bone
2	chr1:47872800-47877800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:47873000-47876600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:47873400-47877800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr1:47873600-47877200	Enhancers	Fetal Heart	heart
6	chr1:47873800-47879200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:47874000-47876200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:47874000-47876600	Enhancers	Fetal Lung	lung
9	chr1:47874400-47878400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:47874600-47876000	Enhancers	NH-A	brain
11	chr1:47874600-47876200	Bivalent Enhancer	Fetal Stomach	stomach
12	chr1:47874600-47877400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:47874800-47875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:47874800-47876200	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr1:47874800-47876200	Enhancers	Placenta	Placenta
16	chr1:47875000-47875800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr1:47875000-47876200	Enhancers	Adipose Nuclei	Adipose
18	chr1:47875000-47876200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:47875000-47877800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:47875200-47876400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:47875400-47877800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr1:47875400-47877800	Enhancers	HMEC	breast
23	chr1:47875600-47877600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:47875600-47877800	Enhancers	HSMMtube	muscle
25	chr1:47875600-47878000	Enhancers	HSMM	muscle
26	chr1:47875600-47878200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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