Variant report

Variant	rs13121020
Chromosome Location	chr4:55063479-55063480
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11736769	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12500279	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13132222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13134633	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1559715	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34575760	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35087217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35495915	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35765482	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv537097	chr4:55042698-55076041	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	n/a	n/a	inside rSNPs	diseases
5	nsv1008793	chr4:55060925-55535807	Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv537098	chr4:55060925-55535807	Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55061200-55064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:55062800-55065200	Enhancers	Fetal Stomach	stomach
3	chr4:55063200-55063600	Enhancers	H9 Cell Line	embryonic stem cell
4	chr4:55063200-55063600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:55063200-55063600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:55063200-55063600	Enhancers	Stomach Smooth Muscle	stomach
7	chr4:55063200-55063600	Enhancers	Osteobl	bone
8	chr4:55063200-55063800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:55063200-55063800	Enhancers	NHLF	lung
10	chr4:55063200-55064000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:55063200-55064000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:55063200-55064200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:55063200-55064400	Enhancers	Muscle Satellite Cultured Cells	--
14	chr4:55063200-55064400	Enhancers	Ovary	ovary
15	chr4:55063200-55064400	Flanking Active TSS	NHDF-Ad	bronchial
16	chr4:55063200-55064600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:55063200-55064800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr4:55063200-55064800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:55063200-55064800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:55063200-55064800	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr4:55063200-55064800	Enhancers	Colon Smooth Muscle	Colon
22	chr4:55063200-55064800	Enhancers	Fetal Muscle Leg	muscle
23	chr4:55063200-55064800	Enhancers	Right Atrium	heart
24	chr4:55063200-55064800	Enhancers	HSMM	muscle
25	chr4:55063200-55065000	Enhancers	HSMMtube	muscle
26	chr4:55063200-55065200	Enhancers	Rectal Smooth Muscle	rectum
27	chr4:55063400-55063800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:55063400-55063800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:55063400-55063800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:55063400-55063800	Enhancers	Fetal Lung	lung
31	chr4:55063400-55063800	Flanking Active TSS	NH-A	brain
32	chr4:55063400-55064000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:55063400-55064000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:55063400-55064000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:55063400-55064000	Enhancers	Brain Germinal Matrix	brain
36	chr4:55063400-55064000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr4:55063400-55064200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr4:55063400-55064600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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