Variant report

Variant	rs74100366
Chromosome Location	chr12:67788096-67788097
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17103908	1.00[AMR][1000 genomes]
rs17104011	1.00[AMR][1000 genomes]
rs56286665	1.00[AMR][1000 genomes]
rs58118126	1.00[AMR][1000 genomes]
rs59436268	1.00[AMR][1000 genomes]
rs59969216	1.00[AMR][1000 genomes]
rs7134804	1.00[AMR][1000 genomes]
rs74100303	1.00[AMR][1000 genomes]
rs74100350	1.00[AMR][1000 genomes]
rs74100354	1.00[AMR][1000 genomes]
rs74100361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74100376	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559212	chr12:67373549-67850925	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1054111	chr12:67556780-67865542	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:67782600-67788400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:67783200-67788200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:67785200-67788200	Weak transcription	Adipose Nuclei	Adipose
4	chr12:67785600-67788200	Weak transcription	HSMMtube	muscle
5	chr12:67787200-67789000	Enhancers	Fetal Muscle Leg	muscle
6	chr12:67787600-67788400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr12:67787600-67789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr12:67787800-67788200	Weak transcription	Psoas Muscle	Psoas
9	chr12:67787800-67788400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:67787800-67789200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:67788000-67789000	Enhancers	NH-A	brain
12	chr12:67788000-67789200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:67788000-67789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:67788000-67789200	Enhancers	HMEC	breast
15	chr12:67788000-67789200	Enhancers	NHEK	skin

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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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