Variant report

Variant	rs2646319
Chromosome Location	chr4:55703681-55703682
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1123272	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1497476	0.88[CEU][hapmap]
rs1497477	0.96[CEU][hapmap];0.91[CHB][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1497491	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1497492	0.93[ASN][1000 genomes]
rs17695485	0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1948607	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2055222	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2132879	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2132880	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2173228	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646314	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2646316	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2646317	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2646318	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2646320	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646351	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2646355	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646364	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646365	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2646368	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2646369	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726610	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726612	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726613	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726619	0.81[AFR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726620	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726621	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2726623	0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2726626	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726627	0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726628	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2726629	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2726630	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2726631	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2726632	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28628137	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4280801	0.93[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4345236	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs716919	0.92[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7668976	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7692346	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7697169	0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs871692	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs871693	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs871694	0.93[CEU][hapmap];0.96[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][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	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1836939	chr4:55701134-55716601	Weak transcription Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr4:55698200-55703800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:55702000-55704200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:55702200-55704000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:55703400-55703800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:55703400-55703800	Enhancers	Brain Anterior Caudate	brain
6	chr4:55703400-55704200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:55703400-55704200	Enhancers	Brain Hippocampus Middle	brain
8	chr4:55703600-55704200	Enhancers	Fetal Lung	lung
9	chr4:55703600-55704400	Enhancers	Brain Germinal Matrix	brain

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