Variant report

Variant	rs67749743
Chromosome Location	chr3:52531681-52531682
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:52530625..52532525-chr3:52540604..52543562,2	MCF-7	breast:
2	chr3:52528800..52530920-chr3:52531153..52533413,2	MCF-7	breast:
3	chr3:52531295..52534156-chr3:52543396..52545644,2	K562	blood:

Variant related genes	Relation type
ENSG00000010327	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs13066389	1.00[ASN][1000 genomes]
rs13066644	1.00[ASN][1000 genomes]
rs13326165	1.00[ASN][1000 genomes]
rs34735556	0.82[ASN][1000 genomes]
rs35225119	0.82[ASN][1000 genomes]
rs35272104	0.82[ASN][1000 genomes]
rs35325270	1.00[ASN][1000 genomes]
rs35371456	1.00[ASN][1000 genomes]
rs4687545	1.00[ASN][1000 genomes]
rs758801	0.89[ASN][1000 genomes]
rs758802	1.00[ASN][1000 genomes]
rs7614424	1.00[ASN][1000 genomes]
rs7644763	0.90[ASN][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:68 , 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	chr3:52514600-52534200	Weak transcription	Small Intestine	intestine
4	chr3:52527000-52532400	Weak transcription	GM12878-XiMat	blood
5	chr3:52527000-52538000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:52527000-52540200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:52527400-52532600	Weak transcription	Stomach Mucosa	stomach
8	chr3:52527800-52531800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:52527800-52532800	Weak transcription	Primary T cells from cord blood	blood
10	chr3:52527800-52533200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:52527800-52533400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr3:52528000-52532000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr3:52528000-52534800	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:52528600-52533600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr3:52529200-52533000	Weak transcription	Brain Angular Gyrus	brain
16	chr3:52529200-52537400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr3:52529400-52532200	Active TSS	Brain Hippocampus Middle	brain
18	chr3:52530000-52532000	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
19	chr3:52530000-52537600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr3:52530000-52538800	Weak transcription	Gastric	stomach
21	chr3:52530200-52531800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr3:52530200-52531800	Weak transcription	NH-A	brain
23	chr3:52530200-52537600	Weak transcription	Pancreas	Pancrea
24	chr3:52530200-52551800	Weak transcription	Esophagus	oesophagus
25	chr3:52530400-52531800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr3:52530400-52531800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr3:52530400-52531800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr3:52530400-52531800	Weak transcription	HSMM	muscle
29	chr3:52530400-52531800	Weak transcription	Osteobl	bone
30	chr3:52530400-52532200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr3:52530400-52552400	Weak transcription	Brain Substantia Nigra	brain
32	chr3:52530600-52531800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr3:52530600-52531800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:52530600-52531800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:52530600-52531800	Weak transcription	NHDF-Ad	bronchial
36	chr3:52530600-52532000	Weak transcription	HSMMtube	muscle
37	chr3:52530600-52532400	Weak transcription	NHLF	lung
38	chr3:52530600-52532600	Weak transcription	Colonic Mucosa	Colon
39	chr3:52530600-52535400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr3:52530600-52558000	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:52530800-52531800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:52530800-52531800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr3:52530800-52531800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr3:52530800-52531800	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr3:52530800-52532000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:52530800-52532200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr3:52530800-52532400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr3:52530800-52532800	Weak transcription	Liver	Liver
49	chr3:52530800-52537600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr3:52530800-52548200	Weak transcription	Right Ventricle	heart

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