Variant report

Variant	rs401290
Chromosome Location	chr1:76636588-76636589
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs289684	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs289685	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2952434	0.85[AFR][1000 genomes]
rs3011988	0.85[AFR][1000 genomes]
rs371490	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs392194	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs425877	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs439624	1.00[EUR][1000 genomes]
rs453606	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs519835	1.00[EUR][1000 genomes]
rs549899	0.89[AMR][1000 genomes];1.00[EUR][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	nsv870621	chr1:76620313-76997071	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76619800-76646400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76635600-76637000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:76635800-76636600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:76635800-76636600	Enhancers	Brain Hippocampus Middle	brain
5	chr1:76635800-76636800	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr1:76636000-76636800	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr1:76636000-76636800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr1:76636000-76646600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:76636400-76636800	Enhancers	Brain Substantia Nigra	brain

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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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