Variant report

Variant	rs55639236
Chromosome Location	chr1:85932800-85932801
allele	A/G
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	EP300	chr1:85932708-85933633	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr1:85932580-85933962	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr1:85932605-85933292	HUVEC	blood vessel:	n/a	n/a

Variant related genes	Relation type
ENSG00000273264	TF binding region
DDAH1	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11582061	0.83[EUR][1000 genomes]
rs12564550	0.80[EUR][1000 genomes]
rs12568675	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17127199	0.80[EUR][1000 genomes]
rs2935	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56154783	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56215900	0.80[EUR][1000 genomes]
rs56216312	0.88[EUR][1000 genomes]
rs6658151	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67644506	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72724632	0.80[EUR][1000 genomes]
rs7540169	0.92[EUR][1000 genomes]
rs7547650	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs975880	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats 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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85931200-85941600	Weak transcription	Aorta	Aorta
2	chr1:85931200-85942200	Weak transcription	Esophagus	oesophagus
3	chr1:85931800-85933600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:85931800-85938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:85931800-85938800	Weak transcription	HSMMtube	muscle
6	chr1:85931800-85942400	Weak transcription	NHLF	lung
7	chr1:85931800-85956000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:85931800-85960000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:85932000-85933000	Enhancers	Osteobl	bone
10	chr1:85932000-85933400	Weak transcription	NHDF-Ad	bronchial
11	chr1:85932000-85933600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:85932000-85936400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:85932000-85936400	Weak transcription	NH-A	brain
14	chr1:85932000-85937400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:85932000-85939400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr1:85932000-85961400	Weak transcription	Fetal Stomach	stomach
17	chr1:85932200-85932800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:85932200-85934000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr1:85932200-85945400	Weak transcription	HUVEC	blood vessel
20	chr1:85932400-85933000	Weak transcription	HSMM	muscle
21	chr1:85932400-85936800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:85932800-85933000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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