Variant report

Variant	rs12111218
Chromosome Location	chr6:64030482-64030483
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12111052	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs12111159	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs12111488	1.00[ASW][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs12111559	0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs1711917	0.82[MKK][hapmap]
rs1723522	0.82[MKK][hapmap]
rs1723534	0.82[MKK][hapmap]
rs57018235	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57192996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59514171	0.92[AFR][1000 genomes]
rs60018171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6454127	1.00[ASW][hapmap];0.88[LWK][hapmap];0.89[MKK][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes]
rs6926934	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934571	0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs6936427	0.84[AFR][1000 genomes]
rs7764987	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7776434	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][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	nsv1019831	chr6:63279677-64230736	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1025099	chr6:63514227-64055649	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv538270	chr6:63682752-64147241	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1031548	chr6:64026862-64102045	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv1030651	chr6:64028392-64102045	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 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	chr6:64018200-64050800	Weak transcription	A549	lung
2	chr6:64030000-64031000	Enhancers	Fetal Brain Male	brain
3	chr6:64030400-64031000	Enhancers	H1 BMP4 Derived Trophoblast 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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