Variant report

Variant	rs2481075
Chromosome Location	chr1:160931093-160931094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2246152	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2255961	1.00[AMR][1000 genomes]
rs2256620	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2483150	1.00[AMR][1000 genomes]
rs2779802	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv548058	chr1:160925455-160989614	Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr1:160924600-160931200	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr1:160924800-160931200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr1:160927200-160932400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:160930600-160931600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:160930600-160931800	Enhancers	Liver	Liver
6	chr1:160930600-160932200	Enhancers	HepG2	liver
7	chr1:160930800-160931400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:160930800-160931600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:160930800-160934600	Weak transcription	Ovary	ovary
10	chr1:160931000-160931400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:160931000-160942000	Weak transcription	H9 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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