Variant report

Variant	rs4142978
Chromosome Location	chr9:14060364-14060365
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1799675	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs490911	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs513997	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs542811	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs543458	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs564854	0.82[GIH][hapmap];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs565593	0.86[GIH][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs567563	0.90[EUR][1000 genomes]
rs6474808	0.97[EUR][1000 genomes]
rs6474809	0.89[EUR][1000 genomes]
rs716831	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs719958	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14057000-14062400	Weak transcription	NH-A	brain
2	chr9:14057800-14062600	Weak transcription	Fetal Heart	heart
3	chr9:14058200-14063000	Weak transcription	Fetal Kidney	kidney
4	chr9:14058400-14060600	Weak transcription	Fetal Lung	lung
5	chr9:14058400-14062400	Weak transcription	Fetal Stomach	stomach
6	chr9:14058400-14062800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr9:14058600-14061400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr9:14058600-14061400	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:14058600-14066800	Weak transcription	Adipose Nuclei	Adipose
10	chr9:14059200-14062800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr9:14060000-14061400	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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