Variant report

Variant	rs2180044
Chromosome Location	chr6:164257494-164257495
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]
rs10484519	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10945920	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12192892	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12196115	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12198385	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12201999	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12526720	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12528228	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs12528265	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs17441835	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17538655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35444270	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6914507	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs6916412	0.84[AMR][1000 genomes]
rs7772799	1.00[AMR][1000 genomes];0.94[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1026707	chr6:164188210-164749206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv538527	chr6:164188210-164749206	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr6:164250000-164258200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164255800-164258800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:164256000-164258400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:164256800-164258000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:164256800-164258200	Enhancers	Brain Germinal Matrix	brain
6	chr6:164256800-164260600	Enhancers	Fetal Heart	heart
7	chr6:164257000-164258200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr6:164257000-164258800	Weak transcription	Right Ventricle	heart
9	chr6:164257400-164258400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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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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