Variant report

Variant	rs7591494
Chromosome Location	chr2:212278940-212278941
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11900036	0.82[CHB][hapmap];0.80[JPT][hapmap];0.80[EUR][1000 genomes]
rs13431425	0.83[CEU][hapmap];0.81[EUR][1000 genomes]
rs16825005	0.80[CHB][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs16825008	1.00[YRI][hapmap];0.82[AMR][1000 genomes]
rs16846100	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16846127	0.95[CHB][hapmap];0.91[JPT][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16846128	0.80[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16846133	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16846136	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16846140	1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs1836716	0.89[ASN][1000 genomes]
rs1836717	1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1836718	0.82[CHB][hapmap]
rs2033647	0.95[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs3791696	1.00[YRI][hapmap]
rs3791700	0.91[YRI][hapmap]
rs3791701	0.81[EUR][1000 genomes]
rs3791702	1.00[CHB][hapmap];0.96[JPT][hapmap];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791704	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3791706	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791707	0.95[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3791708	0.95[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3791709	0.91[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3791710	1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs4673616	0.95[CHB][hapmap];0.96[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4673617	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55901919	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59043430	0.82[EUR][1000 genomes]
rs62178762	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6435622	1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73985439	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[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	nsv834523	chr2:212163236-212331393	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv584314	chr2:212238982-212292521	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases
3	nsv1000722	chr2:212272622-212465143	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv875777	chr2:212274937-212295875	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:212278200-212283200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:212278600-212279000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:212278800-212281400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:212278800-212283800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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