Variant report

Variant	rs301117
Chromosome Location	chr4:53799323-53799324
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10866413	0.85[ASN][1000 genomes]
rs301090	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs301118	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs301119	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301120	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs301121	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs301122	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs301123	0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs301124	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs301135	0.83[ASN][1000 genomes]
rs301136	0.80[ASN][1000 genomes]
rs7654682	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004889	chr4:53436500-54106281	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv537094	chr4:53436500-54106281	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:53729200-53807800	Weak transcription	Esophagus	oesophagus
2	chr4:53734600-53822400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:53768800-53815600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:53769000-53804400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr4:53786600-53861400	Weak transcription	Primary B cells from cord blood	blood
6	chr4:53790200-53799400	Weak transcription	Left Ventricle	heart
7	chr4:53793000-53805600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:53796000-53800400	Weak transcription	Placenta	Placenta
9	chr4:53796400-53809800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:53797000-53800200	Enhancers	Fetal Thymus	thymus
11	chr4:53797200-53804000	Weak transcription	GM12878-XiMat	blood
12	chr4:53797600-53799400	Weak transcription	Fetal Intestine Large	intestine
13	chr4:53797600-53800800	Enhancers	Fetal Muscle Leg	muscle
14	chr4:53797600-53808400	Weak transcription	Ovary	ovary
15	chr4:53797800-53801400	Weak transcription	Stomach Mucosa	stomach
16	chr4:53798000-53800000	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:53798000-53800000	Enhancers	Thymus	Thymus
18	chr4:53798000-53801000	Weak transcription	Liver	Liver
19	chr4:53798200-53799400	Weak transcription	Fetal Stomach	stomach
20	chr4:53798200-53800000	Weak transcription	Pancreas	Pancrea
21	chr4:53798200-53803800	Weak transcription	Gastric	stomach
22	chr4:53798200-53812200	Weak transcription	Fetal Brain Female	brain
23	chr4:53798400-53799800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:53798400-53800800	Enhancers	NHDF-Ad	bronchial
25	chr4:53798600-53799600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:53798600-53799800	Enhancers	NH-A	brain
27	chr4:53798600-53800000	Enhancers	Muscle Satellite Cultured Cells	--
28	chr4:53798600-53800200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:53798800-53799600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:53798800-53799600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr4:53798800-53799800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:53798800-53799800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr4:53798800-53800000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr4:53798800-53800200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:53798800-53800200	Enhancers	Psoas Muscle	Psoas
36	chr4:53798800-53800400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:53798800-53801200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr4:53799000-53799400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:53799000-53799400	Flanking Active TSS	Osteobl	bone
40	chr4:53799000-53799600	Enhancers	HSMM	muscle
41	chr4:53799000-53799800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr4:53799000-53799800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:53799000-53799800	Enhancers	NHLF	lung
44	chr4:53799000-53800200	Enhancers	Primary T cells from cord blood	blood
45	chr4:53799000-53800800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr4:53799200-53799400	Enhancers	HSMMtube	muscle
47	chr4:53799200-53799600	Enhancers	Brain Germinal Matrix	brain
48	chr4:53799200-53799600	Enhancers	Fetal Muscle Trunk	muscle
49	chr4:53799200-53799600	Enhancers	HUVEC	blood vessel

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