Variant report

Variant	rs2716693
Chromosome Location	chr2:39895556-39895557
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	chr2:39893666..39896624-chr2:39898263..39900295,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10170462	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10177801	0.87[EUR][1000 genomes]
rs10186346	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10208929	0.87[EUR][1000 genomes]
rs11124689	0.87[EUR][1000 genomes]
rs12613210	0.85[EUR][1000 genomes]
rs12712652	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12989245	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13384364	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13405084	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13409487	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1548870	0.87[EUR][1000 genomes]
rs1548871	0.87[EUR][1000 genomes]
rs1861244	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2041736	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2058618	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2215956	0.87[EUR][1000 genomes]
rs2540200	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2540247	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2540248	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2540249	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2540250	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2540251	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2540252	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2540255	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2716682	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2716683	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716684	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716686	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2716687	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716688	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2716690	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2716691	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2716692	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2716694	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2716719	0.87[EUR][1000 genomes]
rs2716720	0.87[EUR][1000 genomes]
rs2716732	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2716737	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2716738	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35791480	0.85[EUR][1000 genomes]
rs4670952	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4670954	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6707177	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6711206	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6736442	0.87[EUR][1000 genomes]
rs6748628	0.87[EUR][1000 genomes]
rs917964	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs949812	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949813	0.82[AMR][1000 genomes];0.97[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	nsv873889	chr2:39830183-39950482	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv833870	chr2:39837022-40026024	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39894000-39895600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:39894400-39895600	Flanking Active TSS	Fetal Heart	heart
3	chr2:39894400-39895800	Active TSS	Brain Anterior Caudate	brain
4	chr2:39894400-39896400	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
5	chr2:39894400-39897800	Active TSS	Fetal Brain Female	brain
6	chr2:39894400-39907000	Weak transcription	Left Ventricle	heart
7	chr2:39894800-39895600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:39894800-39895600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
9	chr2:39894800-39895800	Enhancers	Fetal Brain Male	brain
10	chr2:39895000-39896000	Weak transcription	Right Ventricle	heart
11	chr2:39895200-39896600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:39895400-39895600	Active TSS	Fetal Kidney	kidney
13	chr2:39895400-39895800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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