Variant report

Variant	rs7845217
Chromosome Location	chr8:19964546-19964547
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17092045	1.00[AMR][1000 genomes]
rs17092048	1.00[AMR][1000 genomes]
rs17092129	1.00[AMR][1000 genomes]
rs17092131	1.00[AMR][1000 genomes]
rs17092137	1.00[AMR][1000 genomes]
rs17092173	1.00[AMR][1000 genomes]
rs56343070	1.00[AMR][1000 genomes]
rs57299806	1.00[AMR][1000 genomes]
rs903995	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv1033511	chr8:19751299-20625091	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv530877	chr8:19873053-20593254	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv890633	chr8:19875100-19985382	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1033931	chr8:19954428-19979303	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv525841	chr8:19957089-19970889	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv1015598	chr8:19963102-20088510	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv539523	chr8:19963102-20088510	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19960400-19964600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:19962200-19965400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr8:19962800-19964600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:19962800-19964600	Enhancers	Adipose Nuclei	Adipose
5	chr8:19962800-19964600	Enhancers	Rectal Smooth Muscle	rectum
6	chr8:19962800-19964600	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr8:19963000-19964600	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr8:19963400-19964600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr8:19963400-19964600	Enhancers	Colon Smooth Muscle	Colon
10	chr8:19963600-19971200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr8:19963800-19968600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:19963800-19968800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr8:19963800-19969000	Weak transcription	Fetal Lung	lung
14	chr8:19963800-19969600	Weak transcription	Psoas Muscle	Psoas
15	chr8:19963800-19971000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:19963800-19972200	Weak transcription	Right Ventricle	heart
17	chr8:19964000-19964600	Weak transcription	Fetal Muscle Leg	muscle
18	chr8:19964000-19969000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:19964200-19968800	Weak transcription	Hela-S3	cervix
20	chr8:19964400-19971200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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