Variant report

Variant	rs7626424
Chromosome Location	chr3:138089229-138089230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs1002766	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1092338	0.82[ASN][1000 genomes]
rs11710280	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11713141	0.84[EUR][1000 genomes]
rs1199330	0.83[ASN][1000 genomes]
rs1199331	0.87[EUR][1000 genomes]
rs1199337	0.83[ASN][1000 genomes]
rs1199338	0.84[ASN][1000 genomes]
rs12107581	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12490350	0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13324341	0.82[ASN][1000 genomes]
rs1564407	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1564408	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1678440	0.83[ASN][1000 genomes]
rs1679147	0.92[EUR][1000 genomes]
rs1720819	0.83[ASN][1000 genomes]
rs185244	0.83[ASN][1000 genomes]
rs1904349	0.81[ASN][1000 genomes]
rs2054468	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2061936	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2169973	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2293252	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35219044	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3755751	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3773752	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3773758	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3773759	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3816730	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678260	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4678261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4678407	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4678408	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4678409	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4678410	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4678411	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4678412	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678415	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4678417	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6439804	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6439805	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6439806	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6439807	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67559768	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6766859	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6769236	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6769261	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6782181	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6782449	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6784989	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6789235	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6790398	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6802211	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs730158	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs731632	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751357	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7615658	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7626388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7637666	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7639809	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639850	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7642400	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9289559	0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs940233	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9825697	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9834911	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9845672	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9846198	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9846223	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9854465	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9855722	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv877537	chr3:137979007-138215114	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	38 gene(s)	inside rSNPs	diseases
4	nsv528349	chr3:138025396-138132393	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1796956	chr3:138051423-138122781	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1848610	chr3:138051423-138133412	Bivalent Enhancer Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1797142	chr3:138087467-138122781	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1845560	chr3:138087467-138133412	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138068800-138093200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:138070000-138096600	Weak transcription	Fetal Brain Male	brain
3	chr3:138071200-138096600	Weak transcription	Aorta	Aorta
4	chr3:138074200-138095600	Enhancers	Fetal Heart	heart
5	chr3:138074800-138089800	Enhancers	Brain Cingulate Gyrus	brain
6	chr3:138075000-138090000	Enhancers	Brain Anterior Caudate	brain
7	chr3:138075600-138089400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:138076000-138108200	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr3:138077800-138091600	Enhancers	Right Ventricle	heart
10	chr3:138078600-138100600	Weak transcription	NH-A	brain
11	chr3:138079600-138095600	Weak transcription	Fetal Brain Female	brain
12	chr3:138080200-138096400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:138080600-138092000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:138081600-138091000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr3:138081600-138108200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr3:138082400-138089400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr3:138082800-138089400	Enhancers	Brain Hippocampus Middle	brain
18	chr3:138083000-138100400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr3:138083200-138091800	Enhancers	Adipose Nuclei	Adipose
20	chr3:138083200-138091800	Enhancers	Left Ventricle	heart
21	chr3:138083200-138100600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:138083400-138090400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:138083800-138089400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr3:138084200-138089600	Enhancers	Lung	lung
25	chr3:138084400-138089600	Enhancers	Brain Substantia Nigra	brain
26	chr3:138085200-138100000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:138085600-138091000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr3:138085800-138096200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:138086200-138089400	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr3:138086200-138100400	Weak transcription	HepG2	liver
31	chr3:138086600-138089400	Enhancers	Brain Angular Gyrus	brain
32	chr3:138086600-138089400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:138086600-138091800	Weak transcription	Fetal Stomach	stomach
34	chr3:138086800-138100600	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:138087000-138092000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr3:138087000-138096000	Weak transcription	Placenta	Placenta
37	chr3:138087200-138091800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:138087200-138092000	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr3:138087200-138093400	Weak transcription	Colon Smooth Muscle	Colon
40	chr3:138087200-138093400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr3:138087200-138097000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:138087200-138100000	Weak transcription	Pancreas	Pancrea
43	chr3:138087200-138100600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr3:138087400-138097000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:138087600-138095000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:138087800-138089400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:138087800-138089400	Enhancers	Ovary	ovary
48	chr3:138087800-138091600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:138087800-138092200	Enhancers	Right Atrium	heart
50	chr3:138088200-138090000	Strong transcription	HSMMtube	muscle

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