Variant report

Variant	rs12428529
Chromosome Location	chr13:30591395-30591396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12427487	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12428518	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2779514	0.80[ASN][1000 genomes]
rs73161513	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7325348	0.82[ASN][1000 genomes]
rs7994485	0.80[ASN][1000 genomes]
rs846837	0.82[ASN][1000 genomes]
rs846841	0.82[ASN][1000 genomes]
rs846842	0.91[ASN][1000 genomes]
rs846844	0.87[ASN][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' 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:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30581000-30592000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr13:30587200-30593400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr13:30588800-30594200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:30589800-30592000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr13:30589800-30592000	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr13:30589800-30593600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr13:30589800-30593800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr13:30589800-30594200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:30590000-30592000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr13:30590400-30591400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr13:30590400-30591600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr13:30590400-30591600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr13:30590400-30591600	Enhancers	Adipose Nuclei	Adipose
14	chr13:30590400-30593800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr13:30590600-30593000	Enhancers	Brain Cingulate Gyrus	brain
16	chr13:30590600-30593200	Enhancers	Brain Substantia Nigra	brain
17	chr13:30590800-30592000	Weak transcription	Fetal Muscle Leg	muscle
18	chr13:30591000-30594200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:30591000-30594200	Weak transcription	HSMMtube	muscle
20	chr13:30591200-30591800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr13:30591200-30593000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:30591200-30593000	Enhancers	Brain Anterior Caudate	brain

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