Variant report

Variant	rs820555
Chromosome Location	chr3:112469820-112469821
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:112465788..112467955-chr3:112468785..112471247,2	K562	blood:
2	chr3:112461762..112464702-chr3:112469113..112471587,3	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1387020	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6800139	0.82[EUR][1000 genomes]
rs712527	0.95[CHB][hapmap];0.92[CHD][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs751108	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs820547	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs820552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs820553	0.89[MEX][hapmap]
rs865363	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	esv3329419	chr3:112236688-112620544	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv432477	chr3:112390310-112603310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3431441	chr3:112453467-113213252	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112459000-112470600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr3:112464400-112470800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr3:112465800-112470800	Weak transcription	NHDF-Ad	bronchial
4	chr3:112466200-112470400	Weak transcription	NH-A	brain
5	chr3:112466200-112470400	Weak transcription	Osteobl	bone
6	chr3:112467000-112470800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr3:112468000-112470600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:112468000-112472000	Enhancers	A549	lung
9	chr3:112468000-112478200	Weak transcription	K562	blood
10	chr3:112468000-112488200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:112468200-112471600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:112468600-112470600	Weak transcription	Stomach Mucosa	stomach
13	chr3:112469000-112472000	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr3:112469200-112470000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr3:112469200-112470000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr3:112469200-112470000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr3:112469200-112471800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:112469400-112470200	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr3:112469400-112470400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr3:112469600-112470000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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