Variant report

Variant	rs17057980
Chromosome Location	chr13:38973366-38973367
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10507471	1.00[AMR][1000 genomes]
rs10507472	1.00[AMR][1000 genomes]
rs11838417	1.00[AMR][1000 genomes]
rs11838861	1.00[AMR][1000 genomes]
rs11839922	1.00[AMR][1000 genomes]
rs17057779	1.00[AMR][1000 genomes]
rs17057796	1.00[AMR][1000 genomes]
rs17057811	1.00[AMR][1000 genomes]
rs17057850	1.00[AMR][1000 genomes]
rs17057855	1.00[AMR][1000 genomes]
rs17057857	1.00[AMR][1000 genomes]
rs17057937	1.00[AMR][1000 genomes]
rs17057940	1.00[AMR][1000 genomes]
rs17057987	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2231327	1.00[AMR][1000 genomes]
rs7326143	1.00[AMR][1000 genomes]
rs7327873	1.00[AMR][1000 genomes]
rs7330234	1.00[AMR][1000 genomes]
rs7338651	1.00[AMR][1000 genomes]
rs7983982	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1041977	chr13:38962265-39002924	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	lncRNA	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38969800-38975400	Weak transcription	Fetal Kidney	kidney
2	chr13:38970000-38973800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:38972600-38973600	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr13:38972800-38973400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr13:38972800-38973600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr13:38972800-38973600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:38972800-38973800	Enhancers	Hela-S3	cervix
8	chr13:38972800-38974000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr13:38972800-38974000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr13:38972800-38974400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr13:38973000-38973400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr13:38973000-38973400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:38973000-38973400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr13:38973000-38974000	Enhancers	HMEC	breast
15	chr13:38973000-38974200	Enhancers	Ovary	ovary
16	chr13:38973000-38974400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr13:38973000-38974400	Enhancers	Fetal Lung	lung
18	chr13:38973200-38973400	Enhancers	Primary hematopoietic stem cells	blood
19	chr13:38973200-38973400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:38973200-38973600	Enhancers	HSMM	muscle
21	chr13:38973200-38974200	Enhancers	NHDF-Ad	bronchial

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