Variant report

Variant	rs17039592
Chromosome Location	chr2:50196155-50196156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10495988	0.85[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs11125278	0.80[AMR][1000 genomes]
rs11885824	0.82[JPT][hapmap]
rs12617277	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs12618646	0.81[AMR][1000 genomes]
rs12995774	0.90[AMR][1000 genomes]
rs12998798	0.90[JPT][hapmap];0.88[AMR][1000 genomes]
rs13000689	0.84[AMR][1000 genomes]
rs13007882	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs13016321	0.81[AMR][1000 genomes]
rs13022108	0.81[AMR][1000 genomes]
rs13023203	0.88[AMR][1000 genomes]
rs13023905	0.84[AMR][1000 genomes]
rs13025974	0.85[AMR][1000 genomes]
rs1345562	0.81[AMR][1000 genomes]
rs17039412	0.85[AMR][1000 genomes]
rs17039430	0.85[AMR][1000 genomes]
rs17039452	0.91[JPT][hapmap];0.90[AMR][1000 genomes]
rs17039454	0.91[JPT][hapmap];0.89[AMR][1000 genomes]
rs17039484	0.82[JPT][hapmap];0.85[AMR][1000 genomes]
rs17039508	0.85[AMR][1000 genomes]
rs17039581	1.00[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17491776	0.82[JPT][hapmap]
rs2241750	0.81[JPT][hapmap];0.81[AMR][1000 genomes]
rs2241752	0.87[AMR][1000 genomes]
rs34533417	0.90[AMR][1000 genomes]
rs34918442	0.94[AMR][1000 genomes]
rs35371642	0.89[AMR][1000 genomes]
rs35373906	0.81[AMR][1000 genomes]
rs4143112	0.81[JPT][hapmap];0.89[AMR][1000 genomes]
rs57936567	0.85[AMR][1000 genomes]
rs62132439	0.82[AMR][1000 genomes]
rs62132441	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62132445	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6745765	0.81[AMR][1000 genomes]
rs6753652	0.82[AMR][1000 genomes]
rs6758043	0.82[JPT][hapmap];0.89[AMR][1000 genomes]
rs6758276	0.81[AMR][1000 genomes]
rs7598993	0.81[AMR][1000 genomes]
rs920033	0.82[JPT][hapmap];0.87[AMR][1000 genomes]
rs920034	0.89[AMR][1000 genomes]
rs920035	0.82[JPT][hapmap];0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932839	chr2:50181785-50225697	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50187600-50199800	Weak transcription	Fetal Brain Female	brain
2	chr2:50188000-50198200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:50188600-50199400	Weak transcription	Fetal Brain Male	brain
4	chr2:50188600-50199600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:50193400-50200600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:50193600-50199400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:50195000-50199400	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:50195000-50199600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr2:50195000-50200000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:50195200-50196600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr2:50195200-50199200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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