Variant report

Variant	rs4946331
Chromosome Location	chr6:118565371-118565372
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12110516	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12110834	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12110841	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs12110924	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12111275	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12111354	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12111454	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4538743	1.00[CHB][hapmap]
rs4945619	1.00[ASN][1000 genomes]
rs4945620	1.00[ASN][1000 genomes]
rs61458307	0.90[AFR][1000 genomes]
rs73512505	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73512510	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73512511	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73512514	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73512519	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73514247	0.90[AFR][1000 genomes]
rs73525897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73527806	1.00[AFR][1000 genomes]
rs73527809	0.81[AFR][1000 genomes]
rs73527816	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530044	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530053	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530055	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73530061	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv428153	chr6:118430517-118586974	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1030089	chr6:118436482-118604516	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv538427	chr6:118436482-118604516	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv532051	chr6:118551027-119044197	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118562800-118566200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:118564400-118566000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118564800-118576400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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