Variant report

Variant	rs57600543
Chromosome Location	chr3:46674033-46674034
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17079122	1.00[AMR][1000 genomes]
rs2373253	1.00[AMR][1000 genomes]
rs55951695	1.00[AMR][1000 genomes]
rs57761566	1.00[AMR][1000 genomes]
rs6773827	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6785033	1.00[AMR][1000 genomes]
rs73831148	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831153	1.00[AMR][1000 genomes]
rs73831154	1.00[AMR][1000 genomes]
rs73831158	0.88[AFR][1000 genomes]
rs73831162	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7632722	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9815029	1.00[AMR][1000 genomes]
rs9819415	1.00[AMR][1000 genomes]
rs9845343	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv876738	chr3:46639048-46680063	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1007449	chr3:46652343-46986578	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv536554	chr3:46652343-46986578	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv876739	chr3:46656980-46744966	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv876740	chr3:46656980-46748453	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv876741	chr3:46663372-46763839	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46672000-46674400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:46672000-46674400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:46672000-46674400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr3:46672000-46674400	Weak transcription	NHDF-Ad	bronchial
5	chr3:46672000-46675600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:46672000-46675800	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr3:46672000-46676000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr3:46672000-46677200	Weak transcription	Fetal Brain Female	brain
9	chr3:46672000-46677600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr3:46672000-46681600	Weak transcription	Left Ventricle	heart
11	chr3:46672200-46674400	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:46672200-46674800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:46672200-46675200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr3:46672200-46675200	Weak transcription	Spleen	Spleen
15	chr3:46672200-46676000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr3:46672400-46675200	Weak transcription	Dnd41	blood
17	chr3:46672400-46675400	Weak transcription	Primary T cells from cord blood	blood
18	chr3:46672400-46675400	Weak transcription	Fetal Thymus	thymus
19	chr3:46672400-46676400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr3:46672600-46674800	Enhancers	Fetal Intestine Large	intestine
21	chr3:46673000-46674600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:46673600-46675000	Enhancers	Liver	Liver
23	chr3:46673600-46675000	Enhancers	Fetal Intestine Small	intestine
24	chr3:46673600-46675600	Enhancers	Adipose Nuclei	Adipose

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