Variant report

Variant	rs61587462
Chromosome Location	chr4:129268758-129268759
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:129260643..129263442-chr4:129266117..129268852,2	K562	blood:
2	chr4:129266715..129269703-chr4:129277973..129279779,2	K562	blood:
3	chr4:129208235..129210983-chr4:129268289..129271195,2	K562	blood:
4	chr4:129256793..129258893-chr4:129267585..129270098,3	K562	blood:

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17013164	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17013198	0.80[ASN][1000 genomes]
rs59150919	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60668559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7679029	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 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	chr4:129251400-129279600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:129260600-129271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:129263000-129269400	Weak transcription	HUVEC	blood vessel
4	chr4:129263000-129274200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:129266600-129273400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr4:129266800-129275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr4:129267200-129269200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr4:129267400-129270200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:129267800-129269000	Enhancers	Placenta	Placenta
10	chr4:129268000-129269400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:129268400-129268800	Enhancers	Psoas Muscle	Psoas
12	chr4:129268400-129269000	Enhancers	Liver	Liver
13	chr4:129268400-129269000	Enhancers	A549	lung
14	chr4:129268400-129269200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:129268400-129269400	Enhancers	Placenta Amnion	Placenta Amnion
16	chr4:129268400-129269400	Enhancers	Stomach Mucosa	stomach
17	chr4:129268400-129269600	Enhancers	Ovary	ovary
18	chr4:129268400-129269800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr4:129268400-129270000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:129268400-129270200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:129268400-129270200	Enhancers	Fetal Heart	heart
22	chr4:129268400-129272000	Enhancers	Hela-S3	cervix
23	chr4:129268600-129268800	Enhancers	Adipose Nuclei	Adipose
24	chr4:129268600-129269000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr4:129268600-129269000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr4:129268600-129269000	Enhancers	Left Ventricle	heart
27	chr4:129268600-129269200	Flanking Active TSS	K562	blood
28	chr4:129268600-129269400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:129268600-129269400	Enhancers	Osteobl	bone
30	chr4:129268600-129269600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:129268600-129269800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:129268600-129269800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:129268600-129269800	Enhancers	NHEK	skin
34	chr4:129268600-129270200	Enhancers	HSMM	muscle
35	chr4:129268600-129270200	Enhancers	HSMMtube	muscle
36	chr4:129268600-129270200	Enhancers	NH-A	brain
37	chr4:129268600-129270200	Enhancers	NHDF-Ad	bronchial
38	chr4:129268600-129271600	Enhancers	NHLF	lung

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