Variant report

Variant	rs7516680
Chromosome Location	chr1:76806409-76806410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10493590	0.92[CEU][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10493591	0.92[CEU][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10782615	0.83[EUR][1000 genomes]
rs11162123	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11585239	0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12069012	0.82[EUR][1000 genomes]
rs12145584	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12145585	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17098734	0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17098736	0.97[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs17098793	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4408196	0.92[CEU][hapmap]
rs58590540	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs752819	0.92[CEU][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539896	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
2	nsv534168	chr1:76718950-77039352	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1006776	chr1:76777323-76899975	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1014231	chr1:76781140-76880630	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76780200-76813800	Weak transcription	Primary B cells from cord blood	blood
2	chr1:76780600-76817200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:76803600-76817400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:76803600-76817400	Weak transcription	Brain Anterior Caudate	brain
5	chr1:76803800-76817600	Weak transcription	Brain Substantia Nigra	brain
6	chr1:76804000-76809800	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr1:76804400-76808600	Weak transcription	Fetal Heart	heart
8	chr1:76805800-76807000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:76805800-76808800	Weak transcription	Primary T cells from cord blood	blood
10	chr1:76806200-76813800	Weak transcription	Adipose Nuclei	Adipose

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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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