Variant report

Variant	rs58305091
Chromosome Location	chr1:215948906-215948907
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11120623	0.85[ASN][1000 genomes]
rs12077188	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17025393	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2255040	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs58310282	0.92[EUR][1000 genomes]
rs73088890	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73088892	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73088894	0.85[ASN][1000 genomes]
rs73088895	0.88[AFR][1000 genomes];1.00[ASN][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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215941200-215949800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:215945800-215950200	Weak transcription	HMEC	breast
3	chr1:215945800-215950600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:215946000-215949000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:215946000-215949400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr1:215948400-215950400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:215948600-215949600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:215948600-215952400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:215948800-215949200	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr1:215948800-215949200	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:215948800-215949800	Enhancers	iPS-18 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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