Variant report

Variant	rs28508479
Chromosome Location	chr4:7856418-7856419
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs28393652	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28418478	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28451112	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468456	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28612887	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28621561	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28638094	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28649910	0.86[EUR][1000 genomes]
rs28657375	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28657625	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28662492	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28728216	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28861809	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4075363	0.85[ASN][1000 genomes]
rs4234834	0.82[AMR][1000 genomes]
rs4377592	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4383619	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4388087	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4404542	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4413405	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4473655	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4496581	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4496582	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4552460	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4605652	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4623000	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838291	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
11	chr4:7846400-7857200	Weak transcription	Left Ventricle	heart
12	chr4:7846800-7858400	Weak transcription	Fetal Heart	heart
13	chr4:7847600-7858400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr4:7848000-7857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:7848000-7857400	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:7848000-7857400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr4:7848200-7862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr4:7848400-7858200	Weak transcription	Fetal Brain Male	brain
20	chr4:7848600-7856800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:7849200-7857000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:7849400-7857600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr4:7850000-7857800	Strong transcription	Fetal Intestine Small	intestine
24	chr4:7850200-7857000	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr4:7850400-7857800	Strong transcription	Fetal Intestine Large	intestine
26	chr4:7850400-7858400	Weak transcription	Right Ventricle	heart
27	chr4:7850600-7857400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:7850800-7857000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:7850800-7857400	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr4:7851200-7857400	Strong transcription	NHLF	lung
31	chr4:7851400-7857400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr4:7851600-7857200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:7851800-7860400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr4:7852000-7856600	Enhancers	Primary T cells fromperipheralblood	blood
35	chr4:7852000-7860400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr4:7852200-7857200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr4:7852200-7857200	Strong transcription	Placenta	Placenta
38	chr4:7852200-7857800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr4:7852400-7857000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr4:7852400-7857200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:7852400-7857400	Strong transcription	Ovary	ovary
42	chr4:7852400-7857800	Strong transcription	Fetal Stomach	stomach
43	chr4:7852600-7856600	Weak transcription	Fetal Brain Female	brain
44	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr4:7853200-7857200	Strong transcription	HepG2	liver
46	chr4:7853600-7858400	Genic enhancers	NH-A	brain
47	chr4:7853800-7859200	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr4:7854000-7856600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr4:7854000-7858400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr4:7854000-7858600	Genic enhancers	HSMM	muscle

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