Variant report

Variant	rs12002139
Chromosome Location	chr9:84870244-84870245
allele	C/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]
rs12000571	1.00[AMR][1000 genomes]
rs12000634	1.00[AMR][1000 genomes]
rs12000638	1.00[AMR][1000 genomes]
rs12000931	0.93[AFR][1000 genomes]
rs12004113	1.00[AMR][1000 genomes]
rs12004470	1.00[AMR][1000 genomes]
rs12006402	1.00[AFR][1000 genomes];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	nsv1049305	chr9:84667596-84918690	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831640	chr9:84695958-84880535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv893507	chr9:84799537-85097651	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr9:84869000-84870800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr9:84869200-84870800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:84869400-84870600	Enhancers	Osteobl	bone
4	chr9:84869600-84870400	Enhancers	NHLF	lung
5	chr9:84869600-84870600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr9:84869600-84870600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr9:84869600-84870800	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr9:84869600-84871400	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr9:84869800-84870400	Enhancers	NH-A	brain
10	chr9:84869800-84871000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr9:84869800-84871400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr9:84870200-84870400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr9:84870200-84870600	Enhancers	HSMM	muscle
14	chr9:84870200-84870800	Enhancers	Fetal Lung	lung

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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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