Variant report

Variant	rs72970614
Chromosome Location	chr2:100848002-100848003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11885939	1.00[AMR][1000 genomes]
rs11903467	1.00[AMR][1000 genomes]
rs55977934	1.00[AMR][1000 genomes]
rs56014037	1.00[AMR][1000 genomes]
rs57214256	1.00[AMR][1000 genomes]
rs58873938	1.00[AMR][1000 genomes]
rs59438692	1.00[AMR][1000 genomes]
rs59956756	1.00[AMR][1000 genomes]
rs6708846	1.00[AMR][1000 genomes]
rs6711900	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72970605	1.00[AMR][1000 genomes]
rs7564817	1.00[AMR][1000 genomes]
rs7571711	1.00[AMR][1000 genomes]
rs7583493	1.00[AMR][1000 genomes]
rs7608701	1.00[AMR][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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100844200-100851400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr2:100847400-100851600	Weak transcription	Lung	lung
3	chr2:100847600-100849200	Weak transcription	Fetal Heart	heart
4	chr2:100847600-100850600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:100847800-100848200	Weak transcription	Fetal Lung	lung
6	chr2:100848000-100848200	Enhancers	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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