Variant report

Variant	rs74100364
Chromosome Location	chr12:67784531-67784532
allele	C/T
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]
rs74100366	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:16 , 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	chr12:67782800-67787600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:67782800-67787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:67783000-67785000	Weak transcription	HSMMtube	muscle
5	chr12:67783000-67786600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr12:67783000-67788000	Weak transcription	NHEK	skin
7	chr12:67783200-67788200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:67783400-67788000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:67784000-67784800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:67784000-67785800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:67784200-67784600	Enhancers	Fetal Kidney	kidney
12	chr12:67784200-67785200	Enhancers	Adipose Nuclei	Adipose
13	chr12:67784400-67784600	Enhancers	Fetal Intestine Small	intestine
14	chr12:67784400-67784800	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:67784400-67786000	Enhancers	Fetal Intestine Large	intestine
16	chr12:67784400-67786000	Enhancers	Psoas Muscle	Psoas

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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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