Variant report

Variant	rs4975069
Chromosome Location	chr4:79404548-79404549
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11098194	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11736198	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12505864	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12508863	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12639694	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12639734	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12640892	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12640944	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12643728	0.92[AMR][1000 genomes]
rs12649321	0.92[AMR][1000 genomes]
rs13146451	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13148498	0.92[AMR][1000 genomes]
rs1496580	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1545894	0.92[AMR][1000 genomes]
rs2035510	0.89[AMR][1000 genomes]
rs2170899	0.92[AMR][1000 genomes]
rs2627652	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34109575	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs34158026	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34505482	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34519238	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34567325	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35031699	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35243121	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs35583270	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3749489	0.93[AMR][1000 genomes]
rs4975068	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4975117	0.91[AMR][1000 genomes]
rs4975121	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975122	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975124	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975125	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975133	0.82[AMR][1000 genomes]
rs55663000	0.85[AMR][1000 genomes]
rs56149575	0.91[AMR][1000 genomes]
rs56274836	0.92[AMR][1000 genomes]
rs62308078	0.90[AMR][1000 genomes]
rs6533669	0.92[AMR][1000 genomes]
rs6533670	0.89[AMR][1000 genomes]
rs66914138	0.92[AMR][1000 genomes]
rs67956146	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6817678	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6824366	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6824995	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6849649	0.84[AMR][1000 genomes]
rs6851427	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6851452	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7675266	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7678731	0.93[AMR][1000 genomes]
rs949506	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs968120	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs968121	0.85[AMR][1000 genomes];0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4975069	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
8	chr4:79378600-79455800	Weak transcription	Right Ventricle	heart
9	chr4:79384600-79405400	Strong transcription	H1 Cell Line	embryonic stem cell
10	chr4:79384800-79405000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr4:79384800-79405600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:79385000-79467400	Weak transcription	Fetal Brain Male	brain
13	chr4:79388200-79405000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:79391000-79405600	Weak transcription	Fetal Heart	heart
15	chr4:79391600-79406800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:79393800-79467200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr4:79396200-79406000	Strong transcription	HepG2	liver
18	chr4:79396800-79410000	Weak transcription	Pancreas	Pancrea
19	chr4:79398000-79409400	Weak transcription	Fetal Lung	lung
20	chr4:79398400-79405400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:79398400-79405800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:79398600-79404600	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr4:79399200-79409800	Weak transcription	Aorta	Aorta
24	chr4:79399200-79410000	Weak transcription	Esophagus	oesophagus
25	chr4:79399400-79409800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:79401000-79467200	Weak transcription	Psoas Muscle	Psoas
27	chr4:79402000-79427600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:79402400-79409600	Weak transcription	HSMMtube	muscle
29	chr4:79403000-79407600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:79403000-79420200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:79403200-79428000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:79403200-79449800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:79403600-79405000	Weak transcription	K562	blood
34	chr4:79403600-79409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:79403800-79406200	Weak transcription	Fetal Intestine Large	intestine
36	chr4:79403800-79407600	Weak transcription	Left Ventricle	heart
37	chr4:79403800-79409800	Weak transcription	Fetal Kidney	kidney
38	chr4:79403800-79411000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:79403800-79428000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr4:79404000-79405000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:79404000-79405200	Weak transcription	NHDF-Ad	bronchial
42	chr4:79404000-79405400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:79404000-79405800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr4:79404000-79409800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr4:79404000-79427200	Weak transcription	Fetal Intestine Small	intestine
46	chr4:79404200-79450200	Weak transcription	HMEC	breast
47	chr4:79404400-79431800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links