Variant report

Variant	rs72949131
Chromosome Location	chr2:58246862-58246863
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	chr2:58243274..58245439-chr2:58246837..58248682,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10164499	0.85[AMR][1000 genomes]
rs10165760	0.82[AFR][1000 genomes]
rs10174202	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10176681	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10178025	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10187411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10191766	0.87[AMR][1000 genomes]
rs10201793	0.87[AMR][1000 genomes]
rs10203014	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs10518852	0.87[AMR][1000 genomes]
rs11883874	0.82[AFR][1000 genomes]
rs11892302	0.84[AFR][1000 genomes]
rs13382369	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13394820	0.84[AFR][1000 genomes]
rs13400997	0.87[AMR][1000 genomes]
rs13405281	0.82[AFR][1000 genomes]
rs13410500	0.82[AFR][1000 genomes]
rs13419989	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs13431271	0.87[AMR][1000 genomes]
rs2165100	0.82[AFR][1000 genomes]
rs28521626	0.84[AFR][1000 genomes]
rs4459722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57112138	0.85[AFR][1000 genomes]
rs57597086	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58470176	0.82[AFR][1000 genomes]
rs6718190	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs72949137	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949158	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951048	0.82[AFR][1000 genomes]
rs72951056	0.82[AFR][1000 genomes]
rs7563225	0.87[AMR][1000 genomes]
rs7563312	0.89[AFR][1000 genomes]
rs7569731	0.90[AFR][1000 genomes]
rs7574578	0.87[AMR][1000 genomes]
rs7574694	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7600213	0.85[AFR][1000 genomes];1.00[AMR][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	nsv834159	chr2:58101262-58283655	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv525988	chr2:58161520-58427786	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874200	chr2:58163178-58262016	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv999591	chr2:58214871-58316147	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:58244800-58250600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:58245800-58247200	Enhancers	A549	lung
3	chr2:58245800-58247400	Enhancers	GM12878-XiMat	blood
4	chr2:58246200-58247200	Enhancers	Hela-S3	cervix
5	chr2:58246400-58247000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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