Variant report

Variant	rs58148580
Chromosome Location	chr4:124758773-124758774
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124752778..124755449-chr4:124757344..124759853,2	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10518305	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10518306	0.88[ASN][1000 genomes]
rs1368509	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17007484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007499	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007509	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007553	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17425479	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17425951	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17491837	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492080	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4340803	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58208464	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58498049	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58530613	0.88[ASN][1000 genomes]
rs6821590	0.80[ASN][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	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv2754745	chr4:124698055-124770865	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124743200-124759800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:124752400-124764800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:124752400-124769000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr4:124754400-124759400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:124754800-124762800	Weak transcription	Aorta	Aorta
6	chr4:124755000-124759400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:124755200-124759600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:124755400-124759600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:124755800-124761200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr4:124756000-124761000	Weak transcription	Colon Smooth Muscle	Colon
11	chr4:124756400-124758800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:124756600-124761400	Enhancers	NHDF-Ad	bronchial
13	chr4:124757200-124758800	Enhancers	Fetal Lung	lung
14	chr4:124758000-124758800	Enhancers	HUVEC	blood vessel
15	chr4:124758000-124759000	Enhancers	NHLF	lung
16	chr4:124758000-124760400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:124758000-124760400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:124758200-124759000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr4:124758400-124758800	Enhancers	HepG2	liver
20	chr4:124758400-124759000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr4:124758400-124759400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:124758400-124759400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr4:124758400-124759400	Weak transcription	Fetal Muscle Leg	muscle
24	chr4:124758400-124759600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:124758400-124759600	Weak transcription	Psoas Muscle	Psoas
26	chr4:124758400-124759800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr4:124758400-124761000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr4:124758400-124763400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr4:124758400-124769000	Weak transcription	Left Ventricle	heart
30	chr4:124758600-124759600	Weak transcription	Fetal Heart	heart
31	chr4:124758600-124759600	Weak transcription	Ovary	ovary
32	chr4:124758600-124759600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr4:124758600-124759600	Weak transcription	HSMM	muscle
34	chr4:124758600-124759600	Weak transcription	HSMMtube	muscle
35	chr4:124758600-124761000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:124758600-124761000	Weak transcription	Fetal Stomach	stomach
37	chr4:124758600-124764000	Weak transcription	NH-A	brain
38	chr4:124758600-124765400	Weak transcription	Fetal Intestine Small	intestine

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