Variant report

Variant	rs513631
Chromosome Location	chr6:70906402-70906403
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1200561	0.85[AMR][1000 genomes]
rs1200567	0.83[AFR][1000 genomes]
rs1200574	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs1711709	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs476026	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs476740	0.95[YRI][hapmap];0.88[AFR][1000 genomes]
rs477680	0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs487928	0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs531627	0.94[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs540654	0.90[YRI][hapmap];0.82[AFR][1000 genomes]
rs549356	0.85[AMR][1000 genomes]
rs558856	0.88[AFR][1000 genomes]
rs559027	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs577010	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs607716	0.90[YRI][hapmap];0.89[AFR][1000 genomes]
rs628028	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs637054	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs652776	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs661521	0.95[YRI][hapmap];0.87[AFR][1000 genomes]
rs692799	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs802179	0.85[AMR][1000 genomes]
rs802181	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs802183	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs810561	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026151	chr6:70621616-70946967	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv933674	chr6:70663616-70973112	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv932111	chr6:70736835-71633094	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv886142	chr6:70741209-71251421	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv830683	chr6:70743422-70941190	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1015807	chr6:70874416-70913489	Strong transcription Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:70875600-70919800	Weak transcription	GM12878-XiMat	blood
2	chr6:70905600-70906800	Strong transcription	Primary B cells from peripheral blood	blood
3	chr6:70905800-70908600	Weak transcription	Primary B cells from cord blood	blood

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