Variant report

Variant	rs57114752
Chromosome Location	chr3:47282116-47282117
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47276373..47278773-chr3:47281395..47283848,2	K562	blood:
2	chr3:47279696..47282501-chr3:47283361..47286390,3	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs55633581	1.00[AMR][1000 genomes]
rs55646108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55727789	1.00[AMR][1000 genomes]
rs55730344	1.00[AMR][1000 genomes]
rs56401311	1.00[AMR][1000 genomes]
rs58040348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58558054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58918862	1.00[AMR][1000 genomes]
rs60017851	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60054745	1.00[AMR][1000 genomes]
rs60444519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61316433	1.00[AMR][1000 genomes]
rs73831430	1.00[AMR][1000 genomes]
rs73831431	1.00[AMR][1000 genomes]
rs73831432	1.00[AMR][1000 genomes]
rs73831444	1.00[AMR][1000 genomes]
rs73831445	1.00[AMR][1000 genomes]
rs73831446	1.00[AMR][1000 genomes]
rs73831448	1.00[AMR][1000 genomes]
rs73831449	1.00[AMR][1000 genomes]
rs73831450	1.00[AMR][1000 genomes]
rs73831451	1.00[AMR][1000 genomes]
rs73831453	1.00[AMR][1000 genomes]
rs73831454	1.00[AMR][1000 genomes]
rs73831455	1.00[AMR][1000 genomes]
rs73831457	1.00[AMR][1000 genomes]
rs73831458	1.00[AMR][1000 genomes]
rs73831459	1.00[AMR][1000 genomes]
rs73831466	1.00[AMR][1000 genomes]
rs73831467	1.00[AMR][1000 genomes]
rs73831468	1.00[AMR][1000 genomes]
rs73831469	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831477	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831481	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831488	1.00[AMR][1000 genomes]
rs73831492	1.00[AMR][1000 genomes]
rs73831493	1.00[AMR][1000 genomes]
rs73831496	1.00[AMR][1000 genomes]
rs73831497	1.00[AMR][1000 genomes]
rs73831501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834305	1.00[AMR][1000 genomes]
rs73834308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73834323	1.00[AMR][1000 genomes]
rs9872793	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv1014457	chr3:47222292-47335175	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv536560	chr3:47222292-47335175	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1799921	chr3:47259253-47283105	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47262800-47287400	Weak transcription	Primary T cells from cord blood	blood
2	chr3:47264200-47322200	Weak transcription	Gastric	stomach
3	chr3:47265800-47283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:47267200-47308000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:47267400-47284600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr3:47267400-47287200	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:47269800-47288400	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:47270000-47284600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:47270200-47288600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr3:47270600-47286800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr3:47270800-47307800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr3:47271400-47308000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr3:47272600-47288200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:47276200-47283000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr3:47276400-47305200	Weak transcription	Brain Anterior Caudate	brain
16	chr3:47276600-47283800	Weak transcription	Right Ventricle	heart
17	chr3:47276800-47284000	Weak transcription	HSMMtube	muscle
18	chr3:47276800-47284600	Weak transcription	Pancreas	Pancrea
19	chr3:47276800-47285200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:47276800-47285200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:47277000-47288200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr3:47277000-47292000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr3:47277400-47284600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr3:47277400-47285200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:47277600-47300400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr3:47278400-47285800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:47279200-47286200	Weak transcription	Ovary	ovary
28	chr3:47279800-47288800	Weak transcription	Brain Substantia Nigra	brain
29	chr3:47280200-47283400	Weak transcription	Fetal Brain Female	brain
30	chr3:47281000-47282200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:47281000-47282800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:47281200-47282600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr3:47281400-47282200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr3:47281400-47282200	Strong transcription	Fetal Intestine Small	intestine
35	chr3:47281400-47282200	Strong transcription	Fetal Stomach	stomach
36	chr3:47281400-47282400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr3:47281400-47282400	Strong transcription	Aorta	Aorta
38	chr3:47281600-47282200	Strong transcription	Lung	lung
39	chr3:47281800-47282200	Enhancers	HepG2	liver
40	chr3:47281800-47285400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:47281800-47285400	Weak transcription	Brain Angular Gyrus	brain

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