Variant report

Variant	rs6592172
Chromosome Location	chr11:83923465-83923466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10792739	0.93[EUR][1000 genomes]
rs1584853	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1584854	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1598073	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1670683	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1670685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1793032	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1793034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72951862	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72951864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72951873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs72951874	1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs993719	1.00[AMR][1000 genomes];0.80[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	nsv1039924	chr11:83662904-83993497	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv541102	chr11:83662904-83993497	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv898029	chr11:83717887-83939591	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv948410	chr11:83918339-84812001	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:83923000-83923600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr11:83923000-83924000	Active TSS	Brain Angular Gyrus	brain
3	chr11:83923000-83924000	Active TSS	Brain Substantia Nigra	brain
4	chr11:83923000-83924200	Active TSS	Brain Cingulate Gyrus	brain
5	chr11:83923000-83924400	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr11:83923200-83924200	Active TSS	Brain Hippocampus Middle	brain
7	chr11:83923200-83924400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:83923200-83924400	Active TSS	GM12878-XiMat	blood
9	chr11:83923400-83923600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:83923400-83923800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:83923400-83924000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:83923400-83924200	Active TSS	HepG2	liver
13	chr11:83923400-83924400	Active TSS	Brain Anterior Caudate	brain
14	chr11:83923400-83924600	Active TSS	Hela-S3	cervix

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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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