Variant report

Variant	rs2554418
Chromosome Location	chr1:72401870-72401871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:72399874..72402263-chr1:72409207..72411359,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10157310	0.98[AFR][1000 genomes]
rs10158969	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10159137	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11805445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808697	1.00[YRI][hapmap]
rs11812000	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13313022	1.00[AMR][1000 genomes]
rs1574837	0.94[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17091687	1.00[AMR][1000 genomes]
rs17091782	1.00[AMR][1000 genomes]
rs2554405	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2554406	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2554407	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2554408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2554409	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2554410	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630403	1.00[AMR][1000 genomes]
rs2768382	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768383	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768385	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768386	0.98[AFR][1000 genomes]
rs2768387	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768389	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768391	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2768396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801329	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801330	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801332	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2801335	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2821240	1.00[AMR][1000 genomes]
rs2821242	1.00[AMR][1000 genomes]
rs28615945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3078155	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6681319	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935829	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935832	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72935834	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543109	1.00[YRI][hapmap]
rs967817	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs967818	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948821	chr1:72049987-72477221	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1003446	chr1:72060680-72419918	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv817447	chr1:72098815-72558020	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv916783	chr1:72196061-72707953	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1007910	chr1:72247302-72543998	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv999162	chr1:72319163-72477496	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv534995	chr1:72319163-72477496	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv428763	chr1:72353556-72499701	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:72389800-72409600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr1:72396800-72409200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:72399600-72402000	Weak transcription	Ovary	ovary
4	chr1:72400000-72403200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:72401000-72402800	Enhancers	Dnd41	blood

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