Variant report

Variant	rs74095934
Chromosome Location	chr12:60430285-60430286
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61519866	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095924	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095928	1.00[AMR][1000 genomes]
rs74095929	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095931	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74098525	1.00[AMR][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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	nsv516042	chr12:60354307-60459370	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899136	chr12:60373244-60483607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv559103	chr12:60383069-60483607	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60428800-60430800	Enhancers	HUVEC	blood vessel
2	chr12:60429400-60430400	Enhancers	NHEK	skin
3	chr12:60429400-60430600	Enhancers	HMEC	breast
4	chr12:60429800-60430400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:60429800-60430600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:60429800-60430600	Enhancers	NHDF-Ad	bronchial

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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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