Variant report

Variant	rs16975342
Chromosome Location	chr13:110773512-110773513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16975280	1.00[EUR][1000 genomes]
rs16975298	1.00[EUR][1000 genomes]
rs57770325	0.89[ASN][1000 genomes]
rs58737693	0.89[ASN][1000 genomes]
rs58782431	0.89[ASN][1000 genomes]
rs7319411	0.94[ASN][1000 genomes]
rs73622485	0.89[ASN][1000 genomes]
rs9588096	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901006	chr13:110748857-110806490	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv563099	chr13:110749252-110778894	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv456115	chr13:110756664-110806490	Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv563100	chr13:110756664-110806490	Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110763000-110775400	Weak transcription	HSMMtube	muscle
2	chr13:110765800-110775800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr13:110766600-110775800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:110767000-110774800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:110769400-110778000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr13:110772200-110778000	Enhancers	Fetal Heart	heart
7	chr13:110772400-110776400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr13:110772600-110774000	Enhancers	Left Ventricle	heart
9	chr13:110772600-110774000	Enhancers	GM12878-XiMat	blood
10	chr13:110772600-110781800	Enhancers	HMEC	breast
11	chr13:110772800-110773800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:110772800-110777800	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr13:110773000-110774000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr13:110773200-110774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr13:110773200-110774200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr13:110773200-110777800	Weak transcription	Right Atrium	heart
17	chr13:110773400-110774200	Enhancers	A549	lung
18	chr13:110773400-110774400	Weak transcription	NH-A	brain
19	chr13:110773400-110774800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr13:110773400-110777600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:110773400-110777600	Weak transcription	Right Ventricle	heart

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