Variant report

Variant	rs2613953
Chromosome Location	chr3:112827513-112827514
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs11916824	1.00[EUR][1000 genomes]
rs13315100	1.00[EUR][1000 genomes]
rs13316462	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1381062	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1563932	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797613	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1797618	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2045689	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613918	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613924	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613927	0.88[AFR][1000 genomes]
rs2613930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613955	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613965	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2613969	0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2650095	1.00[EUR][1000 genomes]
rs2700195	0.92[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700196	0.81[LWK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap]
rs2700197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700211	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700213	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2700228	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2926810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2951457	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3101348	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs57228683	1.00[EUR][1000 genomes]
rs57766030	1.00[EUR][1000 genomes]
rs57995695	0.81[AFR][1000 genomes];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]
rs6795832	1.00[TSI][hapmap]
rs6798990	1.00[EUR][1000 genomes]
rs712528	1.00[EUR][1000 genomes]
rs72950401	1.00[EUR][1000 genomes]
rs7623507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9784314	1.00[TSI][hapmap]
rs9826018	1.00[EUR][1000 genomes]
rs9864636	1.00[EUR][1000 genomes]
rs9873004	1.00[EUR][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	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
3	nsv877345	chr3:112826253-112848851	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112808800-112832400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:112819400-112830400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr3:112822200-112829400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:112823400-112827600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr3:112823400-112827600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:112824200-112828000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:112824200-112828800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr3:112824200-112829800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:112824400-112828000	Weak transcription	Fetal Muscle Leg	muscle
10	chr3:112824400-112829400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:112824600-112829200	Weak transcription	Colon Smooth Muscle	Colon
12	chr3:112825000-112828000	Weak transcription	Ovary	ovary
13	chr3:112825000-112829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:112825000-112829600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:112825000-112829800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:112825200-112829800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:112825600-112829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr3:112825800-112828200	Weak transcription	Fetal Stomach	stomach
19	chr3:112825800-112829400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr3:112826000-112832200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr3:112826200-112829800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:112826600-112827600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:112827000-112828600	Enhancers	Breast Myoepithelial Primary Cells	Breast

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