Variant report

Variant	rs4975092
Chromosome Location	chr4:79333083-79333084
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs11098194	0.81[EUR][1000 genomes]
rs11734612	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11737586	0.90[ASN][1000 genomes]
rs12505864	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12508863	0.85[EUR][1000 genomes]
rs12639694	0.86[EUR][1000 genomes]
rs12639734	0.87[EUR][1000 genomes]
rs12640379	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12640892	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12640944	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12643728	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12644161	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12646915	0.97[EUR][1000 genomes]
rs12649321	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12649596	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12651417	0.97[EUR][1000 genomes]
rs13104315	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13116717	0.97[EUR][1000 genomes]
rs13136716	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146451	0.87[EUR][1000 genomes]
rs13148498	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1385132	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385134	0.96[EUR][1000 genomes]
rs1471752	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1484333	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1484334	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1496580	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1545894	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1552292	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552293	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1552294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2035510	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2170899	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2627652	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28600696	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34108240	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34109575	0.83[EUR][1000 genomes]
rs34158026	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34519238	0.87[EUR][1000 genomes]
rs34567325	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35031699	0.83[EUR][1000 genomes]
rs35243121	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35355124	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35396776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35583270	0.84[EUR][1000 genomes]
rs3749489	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4975060	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4975061	0.94[ASN][1000 genomes]
rs4975068	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4975090	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975091	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975096	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4975098	0.94[ASN][1000 genomes]
rs4975117	0.88[EUR][1000 genomes]
rs4975121	0.87[EUR][1000 genomes]
rs4975122	0.87[EUR][1000 genomes]
rs4975124	0.87[EUR][1000 genomes]
rs4975125	0.87[EUR][1000 genomes]
rs5021255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5021256	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55663000	0.88[EUR][1000 genomes]
rs56149575	0.90[EUR][1000 genomes]
rs56274836	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62308072	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62308078	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533661	0.94[ASN][1000 genomes]
rs6533669	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533670	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66914138	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67956146	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6815591	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815795	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6817678	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6824366	0.87[EUR][1000 genomes]
rs6824995	0.86[EUR][1000 genomes]
rs6825981	0.94[ASN][1000 genomes]
rs6836084	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6847138	0.96[EUR][1000 genomes]
rs6847369	0.94[ASN][1000 genomes]
rs6849649	0.82[EUR][1000 genomes]
rs6851427	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6857181	0.94[ASN][1000 genomes]
rs7655171	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7661165	0.93[ASN][1000 genomes]
rs7678731	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7696075	0.97[EUR][1000 genomes]
rs869349	0.97[EUR][1000 genomes]
rs949506	0.84[EUR][1000 genomes]
rs968120	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs968121	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs986925	0.94[ASN][1000 genomes]
rs986926	0.94[ASN][1000 genomes]
rs989028	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4975092	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79284600-79353600	Weak transcription	Left Ventricle	heart
2	chr4:79295600-79338800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:79302400-79353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:79309200-79334800	Weak transcription	Fetal Heart	heart
5	chr4:79311000-79334600	Weak transcription	Fetal Lung	lung
6	chr4:79318800-79353600	Weak transcription	Pancreas	Pancrea
7	chr4:79319000-79334000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:79319000-79334000	Weak transcription	Fetal Intestine Small	intestine
9	chr4:79319000-79334200	Weak transcription	Fetal Intestine Large	intestine
10	chr4:79319000-79336000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr4:79319600-79334400	Weak transcription	Fetal Kidney	kidney
12	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
13	chr4:79321800-79337800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr4:79322200-79334000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:79323200-79337600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:79323200-79340400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr4:79324200-79334000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr4:79326000-79334200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:79327000-79342600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr4:79327400-79343600	Weak transcription	Esophagus	oesophagus
21	chr4:79328000-79334000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr4:79329000-79362000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:79329400-79333800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79330200-79333400	Weak transcription	HepG2	liver
25	chr4:79331000-79335800	Weak transcription	HSMMtube	muscle
26	chr4:79331400-79333400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr4:79331400-79333800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:79331400-79339000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:79331400-79347600	Weak transcription	Stomach Mucosa	stomach
30	chr4:79331600-79334200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:79332000-79334000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr4:79332000-79334600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr4:79332000-79337800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr4:79332000-79337800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:79332200-79353800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr4:79332600-79362000	Weak transcription	Rectal Smooth Muscle	rectum

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