Variant report

Variant	rs4254792
Chromosome Location	chr4:124479567-124479568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:124473977..124476757-chr4:124478680..124481463,3	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1452732	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17752451	1.00[ASN][1000 genomes]
rs17809071	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1993190	0.86[ASN][1000 genomes]
rs2014110	0.83[ASN][1000 genomes]
rs2553360	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553363	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2553372	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553373	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2553374	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2553375	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2553377	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2553378	0.88[ASN][1000 genomes]
rs2589836	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589865	1.00[ASN][1000 genomes]
rs2893051	0.95[ASN][1000 genomes]
rs4254791	0.83[ASN][1000 genomes]
rs4286523	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4365740	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4377602	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4400004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4596251	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4833280	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4833282	1.00[ASN][1000 genomes]
rs4833931	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534412	0.86[ASN][1000 genomes]
rs6534414	0.97[ASN][1000 genomes]
rs6813552	1.00[ASN][1000 genomes]
rs6832678	0.82[ASN][1000 genomes]
rs6838729	1.00[ASN][1000 genomes]
rs7694928	0.85[ASN][1000 genomes]
rs979998	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	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
4	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124472600-124481000	Weak transcription	Aorta	Aorta
2	chr4:124473600-124481600	Enhancers	Fetal Intestine Large	intestine
3	chr4:124473800-124480800	Enhancers	Stomach Mucosa	stomach
4	chr4:124476600-124480400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:124476600-124481600	Enhancers	Fetal Intestine Small	intestine
6	chr4:124476600-124486000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:124476800-124480200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:124477000-124480200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:124477200-124480400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr4:124477200-124484400	Weak transcription	Ovary	ovary
11	chr4:124477200-124485200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:124477200-124486800	Weak transcription	Right Atrium	heart
13	chr4:124477400-124481200	Weak transcription	Hela-S3	cervix
14	chr4:124477400-124481200	Weak transcription	HSMMtube	muscle
15	chr4:124477600-124480200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr4:124477600-124480200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr4:124477600-124480600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:124477600-124482000	Enhancers	HepG2	liver
19	chr4:124477800-124480000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:124477800-124480200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr4:124477800-124481000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:124477800-124483200	Weak transcription	Psoas Muscle	Psoas
23	chr4:124477800-124485200	Weak transcription	Fetal Heart	heart
24	chr4:124478000-124480000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:124478000-124480200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:124478000-124480200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr4:124478000-124480200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:124478000-124480200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:124478000-124480200	Weak transcription	Fetal Kidney	kidney
30	chr4:124478000-124480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:124478000-124480400	Weak transcription	NHDF-Ad	bronchial
32	chr4:124478000-124480400	Weak transcription	Osteobl	bone
33	chr4:124478000-124480600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:124478000-124480600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:124478000-124480800	Weak transcription	A549	lung
36	chr4:124478000-124481000	Weak transcription	Fetal Lung	lung
37	chr4:124478000-124481200	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr4:124478000-124481200	Weak transcription	NHLF	lung
39	chr4:124478200-124480000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:124478200-124480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:124478200-124480400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr4:124478200-124480400	Weak transcription	Small Intestine	intestine
43	chr4:124478200-124485000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:124478200-124485800	Weak transcription	Adipose Nuclei	Adipose
45	chr4:124479000-124479600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:124479000-124479600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr4:124479400-124484400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr4:124479400-124485200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links