Variant report

Variant	rs58150137
Chromosome Location	chr2:58247250-58247251
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:58243274..58245439-chr2:58246837..58248682,2	K562	blood:
2	chr2:58247203..58248924-chr2:58262338..58265214,2	MCF-7	breast:
3	chr2:58247168..58251041-chr2:58272762..58276217,5	K562	blood:

Variant related genes	Relation type
ENSG00000028116	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17049332	1.00[AMR][1000 genomes]
rs17049336	1.00[AMR][1000 genomes]
rs17049352	1.00[AMR][1000 genomes]
rs57334221	1.00[AMR][1000 genomes]
rs58276647	1.00[AMR][1000 genomes]
rs58440082	1.00[AMR][1000 genomes]
rs59323329	1.00[AMR][1000 genomes]
rs59350619	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60949622	1.00[AMR][1000 genomes]
rs60987670	1.00[AMR][1000 genomes]
rs6708652	1.00[AMR][1000 genomes]
rs6709119	1.00[AMR][1000 genomes]
rs6709203	1.00[AMR][1000 genomes]
rs6711197	1.00[AMR][1000 genomes]
rs6733307	1.00[AMR][1000 genomes]
rs6742150	1.00[AMR][1000 genomes]
rs6744187	0.85[AFR][1000 genomes]
rs6753121	1.00[AMR][1000 genomes]
rs6761822	1.00[AMR][1000 genomes]
rs72948807	1.00[AMR][1000 genomes]
rs72948815	1.00[AMR][1000 genomes]
rs72948818	1.00[AMR][1000 genomes]
rs72948825	1.00[AMR][1000 genomes]
rs72948853	1.00[AMR][1000 genomes]
rs72948859	1.00[AMR][1000 genomes]
rs72948861	1.00[AMR][1000 genomes]
rs72948870	1.00[AMR][1000 genomes]
rs72948884	1.00[AMR][1000 genomes]
rs72948885	1.00[AMR][1000 genomes]
rs72948886	1.00[AMR][1000 genomes]
rs72948887	1.00[AMR][1000 genomes]
rs72949109	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949121	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949138	0.93[AFR][1000 genomes]
rs72949141	0.93[AFR][1000 genomes]
rs72949150	0.93[AFR][1000 genomes]
rs72949151	0.93[AFR][1000 genomes]
rs72949154	0.93[AFR][1000 genomes]
rs72949159	0.93[AFR][1000 genomes]
rs72951021	0.93[AFR][1000 genomes]
rs72951025	0.93[AFR][1000 genomes]
rs72951027	0.93[AFR][1000 genomes]
rs72951053	1.00[AMR][1000 genomes]
rs72951061	1.00[AMR][1000 genomes]
rs72951063	1.00[AMR][1000 genomes]
rs72951079	1.00[AMR][1000 genomes]
rs72951080	1.00[AMR][1000 genomes]
rs72951097	1.00[AMR][1000 genomes]
rs72953110	1.00[AMR][1000 genomes]
rs72953112	1.00[AMR][1000 genomes]
rs72953119	1.00[AMR][1000 genomes]
rs72953122	1.00[AMR][1000 genomes]
rs72953124	1.00[AMR][1000 genomes]
rs72953130	1.00[AMR][1000 genomes]
rs7579768	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7580070	1.00[AMR][1000 genomes]
rs7601969	0.93[AFR][1000 genomes]
rs7604864	1.00[AMR][1000 genomes]
rs7604987	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:2 , 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	chr2:58245800-58247400	Enhancers	GM12878-XiMat	blood

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