Variant report

Variant	rs72665744
Chromosome Location	chr4:87463933-87463934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr4:87463800-87463950	GM12864	blood:	n/a	n/a

Variant related genes	Relation type
MIR4452	TF binding region

Extended variants
information (count: 113 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10023787	0.81[ASN][1000 genomes]
rs10031843	0.84[ASN][1000 genomes]
rs11097115	0.84[ASN][1000 genomes]
rs11947775	0.93[ASN][1000 genomes]
rs1481833	0.82[ASN][1000 genomes]
rs17011924	0.87[ASN][1000 genomes]
rs17418221	0.88[ASN][1000 genomes]
rs17418531	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17418801	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17418878	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17419295	0.82[ASN][1000 genomes]
rs17452467	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17452556	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28483710	0.82[ASN][1000 genomes]
rs28485273	0.82[ASN][1000 genomes]
rs28529445	0.84[ASN][1000 genomes]
rs28534599	0.82[ASN][1000 genomes]
rs28663376	0.82[ASN][1000 genomes]
rs28678816	0.81[ASN][1000 genomes]
rs28735881	0.82[ASN][1000 genomes]
rs4235081	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4277747	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4404513	0.89[ASN][1000 genomes]
rs4405982	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4407468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4452393	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4466012	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4511966	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513526	0.82[ASN][1000 genomes]
rs4529013	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4552430	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4607180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622964	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4640633	0.94[ASN][1000 genomes]
rs4693147	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4693772	0.93[ASN][1000 genomes]
rs4693776	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4693777	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55653332	0.93[ASN][1000 genomes]
rs55654230	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs55660529	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55722156	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55746316	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55757426	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55773619	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55814693	0.85[ASN][1000 genomes]
rs55842318	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55872468	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55879246	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55881335	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55908925	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55930543	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55969415	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55982489	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56009992	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56150118	0.84[ASN][1000 genomes]
rs56164000	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs56178389	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs56222033	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56296936	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56348925	0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs56353461	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59644743	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs61152200	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6531932	0.81[ASN][1000 genomes]
rs66669421	0.82[ASN][1000 genomes]
rs67274037	0.82[ASN][1000 genomes]
rs67341369	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs67523832	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67928053	0.82[ASN][1000 genomes]
rs6822396	0.91[ASN][1000 genomes]
rs6838659	0.93[ASN][1000 genomes]
rs6847139	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72664002	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72665711	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665712	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72665714	0.93[ASN][1000 genomes]
rs72665719	0.94[ASN][1000 genomes]
rs72665722	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665724	0.96[ASN][1000 genomes]
rs72665725	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72665729	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665734	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665736	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665737	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665738	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665740	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72665746	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs72665752	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72665753	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665756	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72665759	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72665762	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72665769	0.85[ASN][1000 genomes]
rs72665771	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72665772	0.84[ASN][1000 genomes]
rs72665777	0.82[ASN][1000 genomes]
rs7435744	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673698	0.93[ASN][1000 genomes]
rs7675845	0.85[ASN][1000 genomes]
rs7694723	0.82[ASN][1000 genomes]
rs7695011	0.93[ASN][1000 genomes]
rs7697819	0.90[ASN][1000 genomes]
rs9307020	0.82[ASN][1000 genomes]
rs9683663	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9993042	0.84[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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87432000-87464800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:87438000-87465200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:87443200-87468000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:87458000-87468200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:87458600-87465000	Weak transcription	Brain Anterior Caudate	brain
6	chr4:87459400-87468600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:87460400-87464400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:87460600-87465200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:87460600-87466600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr4:87461400-87464800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:87461400-87466400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr4:87462200-87464400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:87462600-87474000	Weak transcription	Ovary	ovary
14	chr4:87462600-87478000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:87463000-87464000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:87463000-87464000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr4:87463200-87464800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:87463400-87464200	Enhancers	Lung	lung
19	chr4:87463400-87464200	Enhancers	Right Atrium	heart
20	chr4:87463400-87464800	Enhancers	Brain Cingulate Gyrus	brain
21	chr4:87463600-87466800	Enhancers	GM12878-XiMat	blood
22	chr4:87463800-87464200	Enhancers	Fetal Kidney	kidney
23	chr4:87463800-87464400	Enhancers	Brain Hippocampus Middle	brain
24	chr4:87463800-87464400	Enhancers	Fetal Heart	heart
25	chr4:87463800-87465400	Enhancers	Brain Substantia Nigra	brain
26	chr4:87463800-87466200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:87463800-87466200	Enhancers	Brain Inferior Temporal Lobe	brain

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