Variant report

Variant	rs72665722
Chromosome Location	chr4:87429325-87429326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10031843	0.83[ASN][1000 genomes]
rs11097115	0.83[ASN][1000 genomes]
rs11947775	0.94[ASN][1000 genomes]
rs1481833	0.81[ASN][1000 genomes]
rs17011924	0.88[ASN][1000 genomes]
rs17418221	0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17418531	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17418801	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17418878	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17419295	0.81[ASN][1000 genomes]
rs17452467	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17452556	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28483710	0.81[ASN][1000 genomes]
rs28485273	0.81[ASN][1000 genomes]
rs28529445	0.83[ASN][1000 genomes]
rs28534599	0.81[ASN][1000 genomes]
rs28663376	0.81[ASN][1000 genomes]
rs28735881	0.81[ASN][1000 genomes]
rs4235081	0.96[ASN][1000 genomes]
rs4277747	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4404513	0.90[ASN][1000 genomes]
rs4405982	0.94[ASN][1000 genomes]
rs4407468	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4452393	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4466012	0.99[ASN][1000 genomes]
rs4511966	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513526	0.81[ASN][1000 genomes]
rs4529013	0.96[ASN][1000 genomes]
rs4552430	0.81[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4607180	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4622964	0.94[ASN][1000 genomes]
rs4640633	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4693147	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4693772	0.94[ASN][1000 genomes]
rs4693776	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4693777	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55653332	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55654230	0.84[ASN][1000 genomes]
rs55660529	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55722156	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55746316	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55757426	0.86[ASN][1000 genomes]
rs55773619	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55814693	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55842318	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55872468	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55879246	0.86[ASN][1000 genomes]
rs55881335	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55908925	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55930543	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55969415	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55982489	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56009992	0.99[ASN][1000 genomes]
rs56150118	0.83[ASN][1000 genomes]
rs56164000	0.96[ASN][1000 genomes]
rs56178389	0.83[ASN][1000 genomes]
rs56222033	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56296936	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56348925	0.87[ASN][1000 genomes]
rs56353461	0.96[ASN][1000 genomes]
rs59644743	0.94[ASN][1000 genomes]
rs61152200	0.94[ASN][1000 genomes]
rs66669421	0.81[ASN][1000 genomes]
rs67274037	0.81[ASN][1000 genomes]
rs67341369	0.86[ASN][1000 genomes]
rs67523832	0.84[ASN][1000 genomes]
rs67928053	0.81[ASN][1000 genomes]
rs6822396	0.92[ASN][1000 genomes]
rs6838659	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6847139	0.96[ASN][1000 genomes]
rs72664002	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665711	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665712	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665714	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs72665719	0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs72665724	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72665725	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665729	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665734	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665737	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665738	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665740	0.96[ASN][1000 genomes]
rs72665744	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665746	0.96[ASN][1000 genomes]
rs72665752	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665753	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665756	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665759	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72665762	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72665769	0.84[ASN][1000 genomes]
rs72665771	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72665772	0.83[ASN][1000 genomes]
rs72665777	0.81[ASN][1000 genomes]
rs7435744	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673698	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7675845	0.86[ASN][1000 genomes]
rs7679269	0.80[ASN][1000 genomes]
rs7694723	0.81[ASN][1000 genomes]
rs7695011	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7697819	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs9307020	0.81[ASN][1000 genomes]
rs9683663	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9993042	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv594786	chr4:87076360-87609320	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv999470	chr4:87165663-87514552	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	nsv537164	chr4:87165663-87514552	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv594787	chr4:87221827-87888667	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1012836	chr4:87279206-87643558	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	esv2757071	chr4:87417291-87689533	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
7	esv2759264	chr4:87417291-87689533	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87419600-87430600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr4:87423000-87429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:87427400-87430200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:87427600-87429400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:87427800-87430600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87428000-87429400	Weak transcription	Ovary	ovary
7	chr4:87428000-87429600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:87428000-87429800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:87428200-87429400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:87428200-87429400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr4:87428200-87429600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr4:87428400-87429800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr4:87428600-87429600	Weak transcription	Fetal Kidney	kidney
14	chr4:87429000-87429400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:87429000-87429400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:87429000-87429400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr4:87429000-87429400	Enhancers	Brain Hippocampus Middle	brain
18	chr4:87429000-87429800	Enhancers	Stomach Mucosa	stomach
19	chr4:87429000-87430800	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:87429200-87429400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr4:87429200-87429400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr4:87429200-87429400	Enhancers	Brain Anterior Caudate	brain
23	chr4:87429200-87429400	Enhancers	Colon Smooth Muscle	Colon
24	chr4:87429200-87429400	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr4:87429200-87429400	Enhancers	Stomach Smooth Muscle	stomach
26	chr4:87429200-87429400	Enhancers	A549	lung
27	chr4:87429200-87429400	Enhancers	NH-A	brain
28	chr4:87429200-87429400	Enhancers	Osteobl	bone
29	chr4:87429200-87429600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr4:87429200-87429600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:87429200-87429600	Enhancers	HSMMtube	muscle
32	chr4:87429200-87429600	Flanking Active TSS	NHDF-Ad	bronchial
33	chr4:87429200-87429600	Flanking Active TSS	NHLF	lung
34	chr4:87429200-87430000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:87429200-87430000	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr4:87429200-87430400	Enhancers	Brain Angular Gyrus	brain
37	chr4:87429200-87431000	Enhancers	Fetal Lung	lung

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