Variant report

Variant	rs13423930
Chromosome Location	chr2:63401560-63401561
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10169292	0.91[YRI][hapmap]
rs10176805	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10180262	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10187907	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10199938	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10203623	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10203845	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11125951	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11675647	0.91[YRI][hapmap]
rs12713478	0.91[YRI][hapmap]
rs13402830	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13403570	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13419820	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13422328	0.82[YRI][hapmap]
rs13424984	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426053	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13431266	1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13431765	0.82[YRI][hapmap]
rs13432479	0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1517401	0.81[YRI][hapmap]
rs1517407	0.82[YRI][hapmap]
rs17027850	1.00[EUR][1000 genomes]
rs2030188	0.91[YRI][hapmap]
rs2176416	0.91[YRI][hapmap]
rs2176417	0.91[YRI][hapmap]
rs2421886	0.91[YRI][hapmap]
rs2699393	0.82[YRI][hapmap]
rs57002163	1.00[EUR][1000 genomes]
rs57127049	1.00[EUR][1000 genomes]
rs57320842	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58171425	1.00[EUR][1000 genomes]
rs58523998	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58718173	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59234039	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59718895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59973565	1.00[EUR][1000 genomes]
rs60215951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60935023	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61271282	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6709115	0.91[YRI][hapmap]
rs6713500	0.91[YRI][hapmap]
rs6717060	0.91[YRI][hapmap]
rs6718609	0.91[YRI][hapmap]
rs6728740	1.00[EUR][1000 genomes]
rs6754557	1.00[EUR][1000 genomes]
rs72890504	1.00[EUR][1000 genomes]
rs72890505	1.00[EUR][1000 genomes]
rs72890506	1.00[EUR][1000 genomes]
rs7599037	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv3340700	chr2:63127412-63534998	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1004678	chr2:63230722-63562484	Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv470468	chr2:63374063-63449512	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63397800-63406000	Weak transcription	Aorta	Aorta
2	chr2:63399200-63401600	Weak transcription	Small Intestine	intestine
3	chr2:63399400-63403000	Weak transcription	Brain Hippocampus Middle	brain
4	chr2:63399600-63401600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:63400000-63403400	Weak transcription	Adipose Nuclei	Adipose
6	chr2:63400000-63416000	Weak transcription	Left Ventricle	heart

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