Variant report

Variant	rs59312430
Chromosome Location	chr1:70312010-70312011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1417442	1.00[AMR][1000 genomes]
rs1417445	1.00[AMR][1000 genomes]
rs17131056	1.00[AMR][1000 genomes]
rs74087763	1.00[AMR][1000 genomes]
rs74087768	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7521495	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7532489	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428466	chr1:70306638-70455357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr1:70298000-70312200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:70303200-70313200	Weak transcription	Fetal Brain Female	brain
3	chr1:70311400-70312400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr1:70311400-70312400	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:70311400-70312400	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:70311400-70313800	Enhancers	Brain Angular Gyrus	brain
7	chr1:70311600-70312600	Enhancers	Brain Inferior Temporal Lobe	brain
8	chr1:70311800-70312400	Flanking Active TSS	Brain Anterior Caudate	brain
9	chr1:70312000-70312200	Flanking Active TSS	Brain Cingulate Gyrus	brain
10	chr1:70312000-70312200	Enhancers	HUVEC	blood vessel
11	chr1:70312000-70312400	Enhancers	ES-UCSF4 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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