Variant report

Variant	rs28787705
Chromosome Location	chr3:23597194-23597195
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13324677	1.00[AMR][1000 genomes]
rs28412415	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28842243	0.84[AFR][1000 genomes]
rs9823960	1.00[AMR][1000 genomes]
rs9829711	0.84[AFR][1000 genomes]
rs9829861	1.00[AMR][1000 genomes]
rs9857085	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv533980	chr3:23445901-24311972	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23550800-23598600	Weak transcription	HSMMtube	muscle
2	chr3:23571400-23598800	Weak transcription	Adipose Nuclei	Adipose
3	chr3:23583400-23615200	Weak transcription	Primary B cells from cord blood	blood
4	chr3:23585600-23609400	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:23590000-23608200	Weak transcription	Aorta	Aorta
6	chr3:23590600-23606200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr3:23590800-23599000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr3:23591200-23598000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr3:23591400-23611600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:23591600-23601600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:23591600-23608600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:23592400-23607800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:23594600-23606200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr3:23595200-23607600	Weak transcription	GM12878-XiMat	blood

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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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