Variant report

Variant	rs28663255
Chromosome Location	chr4:47214768-47214769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10009164	0.90[ASN][1000 genomes]
rs10010157	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10016815	0.90[ASN][1000 genomes]
rs10016894	0.90[ASN][1000 genomes]
rs10017326	0.82[AFR][1000 genomes]
rs10018597	0.94[EUR][1000 genomes]
rs11931599	0.90[ASN][1000 genomes]
rs1372497	0.90[ASN][1000 genomes]
rs1372498	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1372499	0.89[ASN][1000 genomes]
rs1442108	0.90[ASN][1000 genomes]
rs1470208	0.90[ASN][1000 genomes]
rs1530302	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1583952	0.89[ASN][1000 genomes]
rs16860067	0.90[ASN][1000 genomes]
rs16860071	0.90[ASN][1000 genomes]
rs16860083	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860087	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17600169	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28482891	0.90[ASN][1000 genomes]
rs28498348	0.90[ASN][1000 genomes]
rs28587597	0.89[ASN][1000 genomes]
rs28605268	0.94[EUR][1000 genomes]
rs3098797	0.89[ASN][1000 genomes]
rs34457317	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4481218	0.90[ASN][1000 genomes]
rs4695200	0.87[ASN][1000 genomes]
rs4695201	0.87[ASN][1000 genomes]
rs55807683	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447541	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666487	0.90[ASN][1000 genomes]
rs7671741	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829922	chr4:47093785-47261181	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv879003	chr4:47102993-47215939	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1009766	chr4:47155845-47277391	Enhancers Flanking Active TSS Weak transcription Active TSS	lncRNA	n/a	inside rSNPs	diseases
4	nsv998919	chr4:47207023-47476876	Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47209200-47215600	Weak transcription	Fetal Heart	heart
2	chr4:47211600-47217400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:47211800-47216200	Weak transcription	NHLF	lung
4	chr4:47212000-47216200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:47212000-47216200	Weak transcription	HSMMtube	muscle
6	chr4:47212600-47215400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:47212600-47215800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr4:47213000-47214800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:47213200-47215200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:47213200-47216200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:47213200-47216200	Weak transcription	HMEC	breast
12	chr4:47213200-47216400	Weak transcription	HSMM	muscle
13	chr4:47213400-47215000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:47213400-47215000	Weak transcription	Osteobl	bone
15	chr4:47213600-47215000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr4:47213800-47215000	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:47214200-47215200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr4:47214200-47218400	Enhancers	NH-A	brain
19	chr4:47214400-47216200	Enhancers	Placenta Amnion	Placenta Amnion
20	chr4:47214600-47215400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:47214600-47216000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr4:47214600-47226600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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