Variant report

Variant	rs73232704
Chromosome Location	chr3:142491956-142491957
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142313784..142316353-chr3:142491833..142494819,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120756	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11717988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2140436	0.82[AMR][1000 genomes]
rs55655603	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55851231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246347	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73230583	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73230587	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73230588	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73230590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232707	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232716	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv591920	chr3:142411200-142496951	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv521098	chr3:142411200-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv518623	chr3:142417070-142503605	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv3333244	chr3:142491897-142492317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142464800-142493200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:142467800-142503400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:142468200-142511000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr3:142468200-142525200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr3:142468400-142498000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:142468400-142501400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr3:142468400-142501400	Weak transcription	HSMM	muscle
8	chr3:142468400-142501600	Weak transcription	Left Ventricle	heart
9	chr3:142468400-142508800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:142468400-142525200	Weak transcription	Fetal Brain Male	brain
11	chr3:142468400-142526800	Weak transcription	NHDF-Ad	bronchial
12	chr3:142468400-142529400	Weak transcription	Brain Germinal Matrix	brain
13	chr3:142468600-142525200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr3:142468800-142492000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:142468800-142513200	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr3:142470600-142505800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:142472400-142509800	Weak transcription	HepG2	liver
18	chr3:142475000-142527200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr3:142475200-142498200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr3:142481600-142501400	Weak transcription	Fetal Stomach	stomach
21	chr3:142484600-142506400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:142487000-142502400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr3:142487400-142501400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:142487400-142501400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:142487400-142513600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:142487600-142503400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:142487800-142506800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr3:142488800-142498200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr3:142488800-142505000	Weak transcription	Brain Hippocampus Middle	brain
30	chr3:142488800-142527000	Weak transcription	Brain Anterior Caudate	brain
31	chr3:142489200-142501400	Weak transcription	Aorta	Aorta
32	chr3:142489800-142501200	Weak transcription	Adipose Nuclei	Adipose
33	chr3:142490000-142497200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr3:142490000-142503600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:142490200-142529400	Weak transcription	Fetal Muscle Leg	muscle
36	chr3:142490400-142501600	Weak transcription	Ovary	ovary
37	chr3:142490400-142522800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr3:142490600-142492400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:142490800-142507400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr3:142491200-142493800	Weak transcription	HSMMtube	muscle
41	chr3:142491400-142501600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr3:142491400-142503200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr3:142491800-142492600	Strong transcription	Fetal Lung	lung

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