Variant report

Variant	rs6533505
Chromosome Location	chr4:111166848-111166849
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:111163585..111167335-chr4:111167729..111171611,4	K562	blood:
2	chr4:111165408..111167827-chr4:111197084..111199276,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12499996	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12508536	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13143689	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17041496	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2170552	0.91[EUR][1000 genomes]
rs34163192	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34304604	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34605697	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4541589	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4557340	0.83[CEU][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs4585374	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4698764	0.83[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs6533501	0.91[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs6533503	0.91[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7682889	0.83[EUR][1000 genomes]
rs7697518	0.90[EUR][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	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6533505	OSTC	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111166000-111167000	Enhancers	K562	blood
2	chr4:111166200-111167000	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr4:111166200-111167200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr4:111166200-111167200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:111166400-111167000	Enhancers	Hela-S3	cervix
6	chr4:111166400-111167200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr4:111166600-111167000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:111166600-111167000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr4:111166600-111167000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:111166600-111167000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr4:111166600-111167000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:111166600-111167000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr4:111166600-111167000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:111166600-111167000	Enhancers	Fetal Kidney	kidney
15	chr4:111166600-111167000	Enhancers	HSMM	muscle
16	chr4:111166600-111167000	Bivalent Enhancer	NHDF-Ad	bronchial
17	chr4:111166600-111167000	Flanking Active TSS	Osteobl	bone
18	chr4:111166600-111167200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:111166600-111167200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:111166600-111167200	Enhancers	NH-A	brain
21	chr4:111166800-111167000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr4:111166800-111167000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:111166800-111167200	Enhancers	HSMMtube	muscle

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