Variant report

Variant	rs72947525
Chromosome Location	chr3:52529972-52529973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:52517051..52518693-chr3:52528843..52530538,2	K562	blood:
2	chr3:52488362..52490407-chr3:52528579..52530282,2	K562	blood:

Variant related genes	Relation type
ENSG00000010322	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17052326	1.00[EUR][1000 genomes]
rs2577828	1.00[EUR][1000 genomes]
rs2577829	1.00[EUR][1000 genomes]
rs2577830	1.00[EUR][1000 genomes]
rs2590840	1.00[EUR][1000 genomes]
rs2590841	1.00[EUR][1000 genomes]
rs36010847	1.00[AMR][1000 genomes]
rs4234635	1.00[EUR][1000 genomes]
rs4234636	1.00[EUR][1000 genomes]
rs56866386	1.00[EUR][1000 genomes]
rs61734654	1.00[AMR][1000 genomes]
rs6766038	1.00[EUR][1000 genomes]
rs6771643	1.00[AMR][1000 genomes]
rs6786835	1.00[AMR][1000 genomes]
rs6787806	1.00[AMR][1000 genomes]
rs6788355	1.00[AMR][1000 genomes]
rs6794706	1.00[EUR][1000 genomes]
rs72947530	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947532	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947537	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72947557	1.00[EUR][1000 genomes]
rs72959348	1.00[EUR][1000 genomes]
rs72965274	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876789	chr3:52247110-52575831	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	nsv834697	chr3:52400578-52579417	Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv876792	chr3:52430526-52575831	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv876793	chr3:52450043-52584787	Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	esv1818902	chr3:52481406-52572056	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv984563	chr3:52516115-52867075	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52508000-52532200	Weak transcription	K562	blood
2	chr3:52513400-52541400	Weak transcription	A549	lung
3	chr3:52513600-52530000	Weak transcription	Fetal Kidney	kidney
4	chr3:52514600-52534200	Weak transcription	Small Intestine	intestine
5	chr3:52519400-52530000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:52526000-52530200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr3:52527000-52530000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:52527000-52530200	Weak transcription	HSMMtube	muscle
9	chr3:52527000-52532400	Weak transcription	GM12878-XiMat	blood
10	chr3:52527000-52538000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:52527000-52540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:52527200-52530400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:52527200-52531200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:52527400-52530600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr3:52527400-52532600	Weak transcription	Stomach Mucosa	stomach
16	chr3:52527600-52530400	Weak transcription	Dnd41	blood
17	chr3:52527800-52531600	Weak transcription	Primary B cells from cord blood	blood
18	chr3:52527800-52531800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:52527800-52532800	Weak transcription	Primary T cells from cord blood	blood
20	chr3:52527800-52533200	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr3:52527800-52533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:52528000-52532000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr3:52528000-52534800	Enhancers	Primary hematopoietic stem cells	blood
24	chr3:52528600-52530400	Weak transcription	Brain Germinal Matrix	brain
25	chr3:52528600-52530600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:52528600-52533600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr3:52528800-52530000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr3:52528800-52530000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:52528800-52530400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr3:52528800-52530400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:52528800-52530400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr3:52528800-52530800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:52528800-52530800	Active TSS	Rectal Smooth Muscle	rectum
34	chr3:52528800-52531000	Active TSS	Duodenum Mucosa	Duodenum
35	chr3:52529000-52530200	Active TSS	Stomach Smooth Muscle	stomach
36	chr3:52529000-52530800	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:52529000-52530800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr3:52529000-52531000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
39	chr3:52529200-52530000	Active TSS	Placenta	Placenta
40	chr3:52529200-52530200	Enhancers	NH-A	brain
41	chr3:52529200-52531200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr3:52529200-52533000	Weak transcription	Brain Angular Gyrus	brain
43	chr3:52529200-52537400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:52529400-52530000	Active TSS	Left Ventricle	heart
45	chr3:52529400-52530200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr3:52529400-52530200	Active TSS	Pancreas	Pancrea
47	chr3:52529400-52530200	Enhancers	HMEC	breast
48	chr3:52529400-52530400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr3:52529400-52530400	Active TSS	Liver	Liver
50	chr3:52529400-52530400	Active TSS	Brain Anterior Caudate	brain

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