Variant report

Variant	rs1027445
Chromosome Location	chr4:79432256-79432257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10022768	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10028402	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098207	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736198	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs13118549	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1390746	0.99[ASN][1000 genomes]
rs1496605	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2903471	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975131	0.98[ASN][1000 genomes]
rs4975132	0.98[ASN][1000 genomes]
rs4975133	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975134	0.99[ASN][1000 genomes]
rs4975137	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55649143	0.89[ASN][1000 genomes]
rs59048991	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62310264	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6813790	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815922	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675266	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7677541	0.99[ASN][1000 genomes]
rs7695038	0.93[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	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1027445	ANXA3	cis	Nerve Tibial	GTEx
rs1027445	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
4	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
5	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
7	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr4:79404200-79450200	Weak transcription	HMEC	breast
9	chr4:79408600-79435000	Weak transcription	Fetal Heart	heart
10	chr4:79410200-79443600	Weak transcription	HSMMtube	muscle
11	chr4:79410200-79461800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:79410800-79439800	Weak transcription	Fetal Lung	lung
13	chr4:79418000-79437800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:79420400-79445000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:79421800-79445200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:79426800-79455000	Weak transcription	Esophagus	oesophagus
17	chr4:79427600-79435200	Weak transcription	Fetal Stomach	stomach
18	chr4:79427800-79439400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:79428000-79432600	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr4:79428000-79437400	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr4:79428000-79437400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr4:79428000-79438400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:79428200-79466200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:79428400-79437400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr4:79428600-79437600	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr4:79428600-79449800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr4:79428600-79459000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr4:79429400-79434800	Weak transcription	Fetal Kidney	kidney
29	chr4:79430200-79432400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:79430200-79439800	Weak transcription	Left Ventricle	heart
31	chr4:79430200-79456000	Weak transcription	Aorta	Aorta
32	chr4:79430200-79456000	Weak transcription	Pancreas	Pancrea
33	chr4:79430600-79451400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr4:79430800-79432400	Weak transcription	Fetal Intestine Small	intestine
35	chr4:79430800-79435200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr4:79430800-79454600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr4:79431000-79434600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:79431800-79433000	Strong transcription	Fetal Intestine Large	intestine
39	chr4:79431800-79433000	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr4:79432000-79433000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:79432200-79432800	Genic enhancers	HepG2	liver
42	chr4:79432200-79448600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links