Variant report

Variant	rs6548626
Chromosome Location	chr3:79566453-79566454
allele	C/T
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:16)

rs_ID	r²[population]
rs13080611	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4263255	0.81[EUR][1000 genomes]
rs4361245	0.83[EUR][1000 genomes]
rs6548622	0.82[EUR][1000 genomes]
rs6548623	0.82[EUR][1000 genomes]
rs6548625	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6548627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6777529	0.81[EUR][1000 genomes]
rs7614913	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615149	0.81[EUR][1000 genomes]
rs7617476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7623809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7626242	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9848224	0.83[EUR][1000 genomes]
rs9871445	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834747	chr3:79441211-79591923	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
2	esv3394288	chr3:79545122-79715746	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
3	nsv877021	chr3:79560604-79892470	Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 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	chr3:79564600-79569200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr3:79564800-79570200	Weak transcription	Fetal Lung	lung
3	chr3:79565000-79570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:79565000-79570600	Weak transcription	Fetal Brain Male	brain
5	chr3:79565800-79570600	Weak transcription	Brain Germinal Matrix	brain
6	chr3:79566000-79566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr3:79566000-79566600	Enhancers	HUVEC	blood vessel
8	chr3:79566000-79568400	Enhancers	Fetal Heart	heart
9	chr3:79566400-79566600	Enhancers	Cortex derived primary cultured neurospheres	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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