Variant report

Variant	rs60997031
Chromosome Location	chr3:52532733-52532734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52528800..52530920-chr3:52531153..52533413,2	MCF-7	breast:
2	chr3:52527621..52529302-chr3:52531817..52533690,2	K562	blood:
3	chr3:52532708..52535027-chr3:52560293..52563018,2	K562	blood:
4	chr3:52532062..52534916-chr3:52535199..52537993,2	K562	blood:
5	chr3:52531295..52534156-chr3:52543396..52545644,2	K562	blood:

Variant related genes	Relation type
ENSG00000010327	Chromatin interaction
ENSG00000168268	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs3890123	1.00[AMR][1000 genomes]
rs55971019	1.00[AMR][1000 genomes]
rs56898787	1.00[AMR][1000 genomes]
rs56961704	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58781613	1.00[AMR][1000 genomes]
rs59528332	0.89[AFR][1000 genomes]
rs60499166	1.00[AMR][1000 genomes]
rs61734628	1.00[AMR][1000 genomes]
rs6766038	1.00[AMR][1000 genomes]
rs73835766	1.00[AMR][1000 genomes]
rs73837049	1.00[AMR][1000 genomes]
rs73837599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73838354	1.00[AMR][1000 genomes]
rs73839116	1.00[AMR][1000 genomes]
rs73839117	1.00[AMR][1000 genomes]
rs7638914	1.00[AMR][1000 genomes]
rs7641255	1.00[AMR][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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52513400-52541400	Weak transcription	A549	lung
2	chr3:52514600-52534200	Weak transcription	Small Intestine	intestine
3	chr3:52527000-52538000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr3:52527000-52540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:52527800-52532800	Weak transcription	Primary T cells from cord blood	blood
6	chr3:52527800-52533200	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr3:52527800-52533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr3:52528000-52534800	Enhancers	Primary hematopoietic stem cells	blood
9	chr3:52528600-52533600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
10	chr3:52529200-52533000	Weak transcription	Brain Angular Gyrus	brain
11	chr3:52529200-52537400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:52530000-52537600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr3:52530000-52538800	Weak transcription	Gastric	stomach
14	chr3:52530200-52537600	Weak transcription	Pancreas	Pancrea
15	chr3:52530200-52551800	Weak transcription	Esophagus	oesophagus
16	chr3:52530400-52552400	Weak transcription	Brain Substantia Nigra	brain
17	chr3:52530600-52535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:52530600-52558000	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:52530800-52532800	Weak transcription	Liver	Liver
20	chr3:52530800-52537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:52530800-52548200	Weak transcription	Right Ventricle	heart
22	chr3:52530800-52551600	Weak transcription	Fetal Intestine Small	intestine
23	chr3:52531000-52533000	Weak transcription	Brain Cingulate Gyrus	brain
24	chr3:52531000-52535600	Weak transcription	Lung	lung
25	chr3:52531000-52547600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:52531600-52533400	Enhancers	Brain Anterior Caudate	brain
27	chr3:52531600-52533600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:52531600-52533600	Enhancers	Primary B cells from cord blood	blood
29	chr3:52531800-52532800	Genic enhancers	HUVEC	blood vessel
30	chr3:52531800-52533000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:52531800-52533000	Enhancers	NH-A	brain
32	chr3:52531800-52533200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:52531800-52533200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr3:52531800-52533200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr3:52531800-52533200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr3:52531800-52533400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:52531800-52533400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr3:52531800-52533400	Enhancers	Muscle Satellite Cultured Cells	--
39	chr3:52531800-52533400	Enhancers	Fetal Thymus	thymus
40	chr3:52531800-52533400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:52531800-52533400	Enhancers	NHDF-Ad	bronchial
42	chr3:52531800-52533600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:52531800-52533600	Enhancers	HSMM	muscle
44	chr3:52531800-52533600	Enhancers	Osteobl	bone
45	chr3:52531800-52533800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr3:52532000-52532800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr3:52532000-52533400	Enhancers	HSMMtube	muscle
48	chr3:52532000-52533600	Enhancers	Primary B cells from peripheral blood	blood
49	chr3:52532000-52533600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr3:52532200-52533200	Weak transcription	Rectal Mucosa Donor 29	rectum

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