Variant report

Variant	rs56058143
Chromosome Location	chr3:46653273-46653274
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:46652193..46653784-chr3:46656998..46659238,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17079010	0.95[ASN][1000 genomes]
rs55734475	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56163098	0.85[EUR][1000 genomes]
rs56168669	0.85[EUR][1000 genomes]
rs58551379	0.85[EUR][1000 genomes]
rs73075564	0.81[EUR][1000 genomes]
rs73075571	0.81[EUR][1000 genomes]
rs73077539	0.85[EUR][1000 genomes]
rs73077544	0.85[EUR][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	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

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46646200-46654000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:46650800-46654600	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr3:46651200-46653400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:46651200-46653600	Weak transcription	Adipose Nuclei	Adipose
5	chr3:46651400-46653400	Weak transcription	Liver	Liver
6	chr3:46651400-46653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:46651400-46654000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr3:46651400-46654200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:46651400-46655000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:46651400-46655400	Enhancers	Fetal Muscle Leg	muscle
11	chr3:46651600-46653600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr3:46651600-46653800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:46651600-46655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr3:46651600-46671200	Weak transcription	Right Atrium	heart
15	chr3:46651800-46658000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:46652000-46653400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:46652000-46653400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr3:46652000-46653400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr3:46652000-46653600	Weak transcription	Fetal Lung	lung
20	chr3:46652000-46654400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:46652000-46655200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr3:46652000-46661000	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr3:46652000-46661200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr3:46652600-46654600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:46652800-46653400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr3:46653200-46654000	Weak transcription	Fetal Muscle Trunk	muscle

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