Variant report

Variant	rs2700228
Chromosome Location	chr3:112853323-112853324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11717082	1.00[EUR][1000 genomes]
rs11916824	1.00[EUR][1000 genomes]
rs13315100	1.00[EUR][1000 genomes]
rs13316462	1.00[EUR][1000 genomes]
rs1381062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563932	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797613	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797618	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045689	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613918	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613924	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613930	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613953	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613955	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613965	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613966	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613969	0.86[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650095	1.00[EUR][1000 genomes]
rs2700195	0.86[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700196	0.93[YRI][hapmap]
rs2700197	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700211	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700213	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2926810	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2951457	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101348	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57228683	1.00[EUR][1000 genomes]
rs57766030	1.00[EUR][1000 genomes]
rs57995695	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58100446	1.00[EUR][1000 genomes]
rs58310808	1.00[EUR][1000 genomes]
rs59069330	1.00[EUR][1000 genomes]
rs59171219	1.00[EUR][1000 genomes]
rs59534035	1.00[EUR][1000 genomes]
rs59923952	1.00[EUR][1000 genomes]
rs6787825	1.00[EUR][1000 genomes]
rs6798990	1.00[EUR][1000 genomes]
rs712528	1.00[EUR][1000 genomes]
rs7623507	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs799828	1.00[EUR][1000 genomes]
rs9826018	1.00[EUR][1000 genomes]
rs9864636	1.00[EUR][1000 genomes]
rs9873004	1.00[EUR][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	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
2	nsv877344	chr3:112789865-112854339	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112847800-112866800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:112849400-112865200	Weak transcription	Fetal Stomach	stomach
3	chr3:112849800-112854800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr3:112851800-112854800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:112852200-112854200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr3:112852200-112854800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:112852400-112854200	Weak transcription	Colon Smooth Muscle	Colon
8	chr3:112852800-112854400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr3:112852800-112866800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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