Variant report

Variant	rs6447553
Chromosome Location	chr4:47472416-47472417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:47472104..47474705-chr4:47476405..47478497,2	K562	blood:
2	chr4:47468877..47471001-chr4:47471871..47473913,2	K562	blood:
3	chr4:47465829..47468286-chr4:47470252..47472768,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10938485	0.87[EUR][1000 genomes]
rs10938486	0.94[EUR][1000 genomes]
rs11729677	0.96[EUR][1000 genomes]
rs12645143	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103660	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13115740	0.96[EUR][1000 genomes]
rs13129226	0.95[EUR][1000 genomes]
rs13140559	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28409227	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28436205	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572263	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588386	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589873	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34022241	0.81[EUR][1000 genomes]
rs34096542	0.81[EUR][1000 genomes]
rs35143328	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35197130	0.95[EUR][1000 genomes]
rs35293354	0.82[EUR][1000 genomes]
rs35796318	0.81[EUR][1000 genomes]
rs4070	0.95[EUR][1000 genomes]
rs4235149	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4235150	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4349580	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4435723	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4510445	0.92[EUR][1000 genomes]
rs4532215	0.96[EUR][1000 genomes]
rs4585276	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4694849	0.96[EUR][1000 genomes]
rs4695233	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695234	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59268722	0.96[EUR][1000 genomes]
rs6447554	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843791	0.85[EUR][1000 genomes]
rs71611998	0.96[EUR][1000 genomes]
rs9993271	0.96[EUR][1000 genomes]
rs9998984	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv879005	chr4:47408838-47548254	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv829923	chr4:47436139-47678443	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47466000-47473200	Weak transcription	Placenta	Placenta
2	chr4:47466000-47475400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:47466200-47473400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:47467800-47474000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr4:47470400-47473400	Enhancers	Osteobl	bone
6	chr4:47470800-47472800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr4:47470800-47472800	Enhancers	NH-A	brain
8	chr4:47471000-47472800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:47471200-47473000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:47471200-47487000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:47471600-47472800	Enhancers	Muscle Satellite Cultured Cells	--
12	chr4:47471600-47472800	Weak transcription	Fetal Heart	heart
13	chr4:47471600-47472800	Enhancers	NHLF	lung
14	chr4:47471800-47472800	Enhancers	NHDF-Ad	bronchial
15	chr4:47471800-47473400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:47471800-47473400	Enhancers	NHEK	skin
17	chr4:47472000-47472800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:47472000-47473400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:47472000-47473400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:47472200-47472800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:47472200-47472800	Enhancers	HMEC	breast

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