Variant report

Variant	rs73298687
Chromosome Location	chr12:48008509-48008510
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10492007	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122136	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17122138	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2100808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36123489	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4348981	1.00[AMR][1000 genomes]
rs4550297	1.00[AMR][1000 genomes]
rs56915320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56967344	1.00[AMR][1000 genomes]
rs57671593	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58292976	1.00[AMR][1000 genomes]
rs58702884	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59702452	1.00[AMR][1000 genomes]
rs60739072	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61702904	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs716665	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7298221	0.87[AMR][1000 genomes]
rs7311790	1.00[AMR][1000 genomes]
rs7315257	1.00[AMR][1000 genomes]
rs73298686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73298689	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73300611	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73300632	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300650	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300653	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300658	0.87[AMR][1000 genomes]
rs73300663	1.00[AMR][1000 genomes]
rs73300666	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73300680	1.00[AMR][1000 genomes]
rs748306	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7962695	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7964752	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv558785	chr12:47740440-48044011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
2	nsv832400	chr12:47840248-48024605	Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv430507	chr12:47883933-48079507	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1051131	chr12:47883981-48016556	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv899056	chr12:47940764-48012390	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	esv2751101	chr12:47940858-48126885	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv558786	chr12:47942029-48044011	Strong transcription Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv558788	chr12:47945797-48012390	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2761737	chr12:47946795-48045722	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1053061	chr12:47946795-48045722	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv899057	chr12:47947551-48012390	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv1050043	chr12:47949004-48087218	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv527728	chr12:47954597-48044506	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47998800-48030800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:48006000-48008600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
3	chr12:48006200-48009000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:48006800-48008600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:48006800-48009000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr12:48006800-48009600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:48007200-48011000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:48007200-48024600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:48007400-48011200	Weak transcription	HSMM	muscle
10	chr12:48007400-48011400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:48007400-48011400	Weak transcription	Primary T cells from cord blood	blood
12	chr12:48007400-48012800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:48007400-48019800	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:48007400-48041800	Weak transcription	HSMMtube	muscle
15	chr12:48007400-48044800	Weak transcription	Aorta	Aorta
16	chr12:48007400-48055400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:48007600-48028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr12:48007600-48032000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:48007600-48037600	Weak transcription	Left Ventricle	heart
20	chr12:48008000-48011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:48008200-48008600	Enhancers	Fetal Stomach	stomach
22	chr12:48008400-48008600	Enhancers	Fetal Lung	lung
23	chr12:48008400-48011200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr12:48008400-48011200	Weak transcription	A549	lung
25	chr12:48008400-48011800	Weak transcription	Primary B cells from cord blood	blood
26	chr12:48008400-48012400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48008400-48014200	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:48008400-48017800	Weak transcription	Lung	lung
29	chr12:48008400-48018200	Weak transcription	Thymus	Thymus
30	chr12:48008400-48019200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:48008400-48029000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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