Variant report

Variant	rs3980839
Chromosome Location	chr1:170485719-170485720
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170478955..170481819-chr1:170484206..170486530,2	K562	blood:
2	chr1:170483969..170486161-chr1:170489073..170491047,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10157476	0.82[AFR][1000 genomes]
rs10733056	0.92[AFR][1000 genomes]
rs10753814	0.95[AFR][1000 genomes]
rs10753815	0.93[AFR][1000 genomes]
rs10800527	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919425	0.92[AFR][1000 genomes]
rs10919429	1.00[AMR][1000 genomes]
rs12068399	1.00[AMR][1000 genomes]
rs12116909	0.94[AFR][1000 genomes]
rs1333133	0.94[AFR][1000 genomes]
rs1333150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333152	0.82[AFR][1000 genomes]
rs1333155	0.92[AFR][1000 genomes]
rs1333156	0.92[AFR][1000 genomes]
rs1412892	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1412894	0.82[AFR][1000 genomes]
rs1412895	0.92[AFR][1000 genomes]
rs1537397	0.95[AFR][1000 genomes]
rs1576979	0.91[AFR][1000 genomes]
rs1576980	0.90[AFR][1000 genomes]
rs16863435	1.00[AMR][1000 genomes]
rs1855221	0.92[AFR][1000 genomes]
rs1930632	0.82[AFR][1000 genomes]
rs2104918	0.89[AFR][1000 genomes]
rs2150029	0.93[AFR][1000 genomes]
rs2225322	0.95[AFR][1000 genomes]
rs2421325	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2901401	0.92[AFR][1000 genomes]
rs4233350	0.84[AFR][1000 genomes]
rs4325194	0.96[AFR][1000 genomes]
rs4402174	0.92[AFR][1000 genomes]
rs4415629	0.98[AFR][1000 genomes]
rs4656769	0.87[AFR][1000 genomes]
rs4656775	0.94[AFR][1000 genomes]
rs4656777	0.94[AFR][1000 genomes]
rs4656779	0.92[AFR][1000 genomes]
rs4656783	0.93[AFR][1000 genomes]
rs6427248	0.81[AFR][1000 genomes]
rs6427249	0.81[AFR][1000 genomes]
rs6427260	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6427261	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6657164	0.92[AFR][1000 genomes]
rs6660575	0.91[AFR][1000 genomes]
rs6664037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6667304	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669308	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6670724	0.90[AFR][1000 genomes]
rs6671312	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6676081	0.91[AFR][1000 genomes]
rs6693763	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6699057	0.87[AFR][1000 genomes]
rs6701218	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6703801	0.84[AFR][1000 genomes]
rs7523665	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531125	0.93[AFR][1000 genomes]
rs7538125	0.92[AFR][1000 genomes]
rs7548443	0.94[AFR][1000 genomes]
rs7553254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872543	chr1:170171083-170674903	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv533915	chr1:170258766-170725296	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170482600-170490600	Weak transcription	Psoas Muscle	Psoas
2	chr1:170485000-170488000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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