Variant report

Variant	rs73088594
Chromosome Location	chr4:7857881-7857882
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10005650	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10024625	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs28425587	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28434072	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28498817	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28607438	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28668205	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675899	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28735181	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28735634	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28842326	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4401450	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4478172	0.83[ASN][1000 genomes]
rs4488938	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4696771	0.86[ASN][1000 genomes]
rs61081420	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61214925	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6605361	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6820041	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6839086	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6842743	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71175434	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73073924	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73073939	0.86[ASN][1000 genomes]
rs73088591	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090508	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090513	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090514	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7376703	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7378072	0.80[ASN][1000 genomes]
rs7676488	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7691757	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7695510	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9330346	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9654093	0.85[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:109 , 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	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
10	chr4:7846800-7858400	Weak transcription	Fetal Heart	heart
11	chr4:7847600-7858400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr4:7848200-7862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr4:7848400-7858200	Weak transcription	Fetal Brain Male	brain
15	chr4:7850400-7858400	Weak transcription	Right Ventricle	heart
16	chr4:7851800-7860400	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr4:7852000-7860400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:7853600-7858400	Genic enhancers	NH-A	brain
20	chr4:7853800-7859200	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr4:7854000-7858400	Genic enhancers	Fetal Muscle Leg	muscle
22	chr4:7854000-7858600	Genic enhancers	HSMM	muscle
23	chr4:7854000-7859000	Genic enhancers	Osteobl	bone
24	chr4:7854600-7858400	Weak transcription	Brain Angular Gyrus	brain
25	chr4:7854800-7858400	Weak transcription	Stomach Mucosa	stomach
26	chr4:7855000-7858800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr4:7855200-7858000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:7855200-7863400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr4:7855400-7859400	Strong transcription	NHEK	skin
30	chr4:7855600-7858600	Genic enhancers	HSMMtube	muscle
31	chr4:7855600-7863200	Weak transcription	Hela-S3	cervix
32	chr4:7855800-7858400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:7855800-7858400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:7855800-7862400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:7856200-7859200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:7856200-7860400	Weak transcription	Pancreas	Pancrea
37	chr4:7856200-7862200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:7856200-7872800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr4:7856400-7860400	Weak transcription	Gastric	stomach
40	chr4:7856400-7861400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr4:7856400-7865600	Weak transcription	Duodenum Mucosa	Duodenum
42	chr4:7856400-7865800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr4:7856600-7858400	Weak transcription	Colon Smooth Muscle	Colon
44	chr4:7856600-7862600	Genic enhancers	A549	lung
45	chr4:7856600-7863200	Weak transcription	Fetal Kidney	kidney
46	chr4:7856800-7858400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:7856800-7858400	Weak transcription	Fetal Brain Female	brain
48	chr4:7856800-7858600	Enhancers	Adipose Nuclei	Adipose
49	chr4:7856800-7860000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr4:7857000-7858400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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