Variant report

Variant	rs62148088
Chromosome Location	chr2:100845666-100845667
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	chr2:100839805..100842512-chr2:100845176..100847981,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17023659	1.00[ASN][1000 genomes]
rs17023710	1.00[ASN][1000 genomes]
rs17023791	0.87[ASN][1000 genomes]
rs17023801	1.00[ASN][1000 genomes]
rs17023820	0.87[ASN][1000 genomes]
rs17023833	0.87[ASN][1000 genomes]
rs62148077	1.00[ASN][1000 genomes]
rs62148078	1.00[ASN][1000 genomes]
rs62148079	1.00[ASN][1000 genomes]
rs62148080	1.00[ASN][1000 genomes]
rs62148082	1.00[ASN][1000 genomes]
rs62148083	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148084	1.00[ASN][1000 genomes]
rs62148085	1.00[ASN][1000 genomes]
rs62148086	1.00[ASN][1000 genomes]
rs62148087	1.00[ASN][1000 genomes]
rs62148089	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148090	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62148092	1.00[ASN][1000 genomes]
rs62148093	1.00[ASN][1000 genomes]
rs62148094	1.00[ASN][1000 genomes]
rs62148095	1.00[ASN][1000 genomes]
rs62150291	1.00[ASN][1000 genomes]
rs6735369	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100840400-100847200	Weak transcription	Lung	lung
2	chr2:100843000-100847200	Weak transcription	Fetal Lung	lung
3	chr2:100844200-100851400	Weak transcription	Primary hematopoietic stem cells	blood

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