Variant report

Variant	rs4975117
Chromosome Location	chr4:79376794-79376795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79372092..79374012-chr4:79376118..79377659,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10023165	1.00[YRI][hapmap]
rs11098194	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11734612	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11736198	0.84[AMR][1000 genomes]
rs11737586	0.81[ASN][1000 genomes]
rs12505864	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12508863	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12639694	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12639734	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12640379	0.88[EUR][1000 genomes]
rs12640892	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12640944	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12643728	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12644161	0.88[EUR][1000 genomes]
rs12646915	0.88[EUR][1000 genomes]
rs12649321	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12649596	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12651417	0.88[EUR][1000 genomes]
rs13104315	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13116717	0.88[EUR][1000 genomes]
rs13136716	0.88[EUR][1000 genomes]
rs13146451	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13148498	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1385132	0.87[EUR][1000 genomes]
rs1385134	0.88[EUR][1000 genomes]
rs1471752	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1484333	0.91[CEU][hapmap];0.89[JPT][hapmap];0.88[EUR][1000 genomes]
rs1484334	0.88[EUR][1000 genomes]
rs1496580	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1545894	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1552292	0.88[EUR][1000 genomes]
rs1552293	0.88[EUR][1000 genomes]
rs1552294	0.88[EUR][1000 genomes]
rs2035510	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2170899	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2627652	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28600696	0.88[EUR][1000 genomes]
rs34108240	0.85[EUR][1000 genomes]
rs34109575	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34158026	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34505482	0.88[AMR][1000 genomes]
rs34519238	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34567325	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35031699	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35243121	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35355124	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35396776	0.88[EUR][1000 genomes]
rs35583270	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3749489	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4975060	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4975068	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4975069	0.91[AMR][1000 genomes]
rs4975090	0.88[EUR][1000 genomes]
rs4975091	0.88[EUR][1000 genomes]
rs4975092	0.88[EUR][1000 genomes]
rs4975096	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4975121	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975122	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975124	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975125	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5021255	0.88[EUR][1000 genomes]
rs5021256	0.92[CEU][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs55663000	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56149575	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56274836	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62308072	0.88[EUR][1000 genomes]
rs62308078	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6533669	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6533670	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66914138	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67956146	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6815591	0.88[EUR][1000 genomes]
rs6815766	0.88[EUR][1000 genomes]
rs6815795	0.88[EUR][1000 genomes]
rs6817678	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6824366	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6824995	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6836084	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6847138	0.87[EUR][1000 genomes]
rs6849649	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6851427	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6851452	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7655171	0.88[EUR][1000 genomes]
rs7661165	0.81[ASN][1000 genomes]
rs7675266	0.84[AMR][1000 genomes]
rs7678731	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7696075	0.89[EUR][1000 genomes]
rs869349	0.89[EUR][1000 genomes]
rs949506	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs968120	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968121	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs989028	0.81[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
rs4975117	ANXA3	cis	Esophagus Muscularis	GTEx

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79320000-79400200	Weak transcription	Psoas Muscle	Psoas
2	chr4:79333200-79391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr4:79343200-79431800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:79348400-79378000	Weak transcription	Right Ventricle	heart
5	chr4:79354000-79391000	Weak transcription	Left Ventricle	heart
6	chr4:79354000-79401600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:79354200-79391000	Weak transcription	Fetal Kidney	kidney
8	chr4:79354400-79385200	Weak transcription	Pancreas	Pancrea
9	chr4:79359800-79382800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:79362400-79378000	Weak transcription	HSMMtube	muscle
11	chr4:79363200-79409800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:79363400-79455200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:79363800-79464200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:79365600-79406400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr4:79365800-79388200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr4:79366200-79408200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:79366600-79382800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:79366800-79382200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr4:79367200-79385400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:79368000-79385600	Weak transcription	Aorta	Aorta
21	chr4:79369200-79379000	Strong transcription	HepG2	liver
22	chr4:79369200-79382000	Strong transcription	H9 Cell Line	embryonic stem cell
23	chr4:79369400-79397800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:79372000-79379200	Weak transcription	Fetal Heart	heart
25	chr4:79372600-79379400	Strong transcription	Fetal Intestine Large	intestine
26	chr4:79372600-79395000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr4:79373600-79385400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr4:79374000-79397600	Weak transcription	Fetal Lung	lung
29	chr4:79374200-79398800	Weak transcription	Esophagus	oesophagus
30	chr4:79374600-79391000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:79374800-79377400	Strong transcription	Fetal Intestine Small	intestine
32	chr4:79375600-79377800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr4:79375800-79391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:79376000-79381600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:79376000-79385200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr4:79376200-79382000	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:79376200-79387400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:79376200-79390000	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr4:79376200-79398600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:79376200-79411600	Weak transcription	Fetal Stomach	stomach
41	chr4:79376600-79377800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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