Variant report

Variant	rs73831562
Chromosome Location	chr3:48278178-48278179
allele	A/G
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	EP300	chr3:48278090-48278292	HepG2	liver:	n/a	n/a
2	MYC	chr3:48278144-48278286	NB4	blood:	n/a	n/a
3	HNF4A	chr3:48277985-48278271	HepG2	liver:	n/a	n/a
4	SP1	chr3:48277933-48278375	HepG2	liver:	n/a	n/a
5	USF1	chr3:48278042-48278284	HepG2	liver:	n/a	chr3:48278150-48278161
6	HNF4A	chr3:48278052-48278398	HepG2	liver:	n/a	n/a
7	MYBL2	chr3:48277875-48278427	HepG2	liver:	n/a	n/a
8	MAX	chr3:48278046-48278964	NB4	blood:	n/a	n/a
9	ARID3A	chr3:48277977-48278293	HepG2	liver:	n/a	n/a
10	USF1	chr3:48278028-48278296	HepG2	liver:	n/a	chr3:48278150-48278161
11	USF1	chr3:48277977-48278254	K562	blood:	n/a	chr3:48278150-48278161
12	USF2	chr3:48278013-48278313	HepG2	liver:	n/a	n/a
13	FOXA1	chr3:48278053-48278356	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:48276130..48279635-chr3:48281247..48284443,4	K562	blood:
2	chr3:48277225..48279635-chr3:48280764..48282747,2	K562	blood:
3	chr3:48276638..48279582-chr3:48474716..48476873,2	MCF-7	breast:

Variant related genes	Relation type
ZNF589	TF binding region
ENSG00000164048	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10780032	1.00[EUR][1000 genomes]
rs11130169	1.00[EUR][1000 genomes]
rs11915428	1.00[EUR][1000 genomes]
rs3731495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3731547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4476528	1.00[AMR][1000 genomes]
rs4858818	1.00[EUR][1000 genomes]
rs55808934	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6442103	1.00[EUR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6442122	1.00[EUR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs6793732	1.00[EUR][1000 genomes]
rs6801348	1.00[EUR][1000 genomes]
rs7372108	1.00[AMR][1000 genomes]
rs73831565	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73831572	1.00[EUR][1000 genomes]
rs7633433	1.00[EUR][1000 genomes]
rs898226	1.00[EUR][1000 genomes]
rs9852211	1.00[EUR][1000 genomes]
rs9863220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9917799	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48274000-48282400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr3:48274600-48278200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:48274600-48278400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:48274600-48281200	Weak transcription	Brain Germinal Matrix	brain
5	chr3:48274600-48281400	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr3:48274600-48281800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr3:48274600-48282200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:48274600-48282200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr3:48274600-48282200	Weak transcription	Ovary	ovary
10	chr3:48274800-48278200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:48274800-48278200	Weak transcription	Adipose Nuclei	Adipose
12	chr3:48274800-48281200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr3:48274800-48282000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:48274800-48282000	Weak transcription	Brain Hippocampus Middle	brain
15	chr3:48274800-48282000	Weak transcription	HMEC	breast
16	chr3:48275000-48282200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr3:48276000-48281800	Weak transcription	GM12878-XiMat	blood
18	chr3:48276200-48280200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:48276200-48281400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:48276800-48279000	Enhancers	HepG2	liver
21	chr3:48276800-48279200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr3:48277200-48278400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:48277200-48280400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr3:48277400-48278200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:48277400-48278400	Enhancers	K562	blood
26	chr3:48277400-48278600	Enhancers	Fetal Thymus	thymus
27	chr3:48277400-48279000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr3:48277600-48278600	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr3:48277800-48278200	Enhancers	Primary B cells from cord blood	blood
30	chr3:48277800-48278200	Enhancers	Primary hematopoietic stem cells	blood
31	chr3:48277800-48278200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr3:48277800-48278400	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr3:48277800-48278400	Enhancers	Esophagus	oesophagus
34	chr3:48277800-48278400	Enhancers	Thymus	Thymus
35	chr3:48277800-48278600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:48277800-48278600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr3:48278000-48278400	Enhancers	Spleen	Spleen
38	chr3:48278000-48279000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:48278000-48279000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr3:48278000-48279200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr3:48278000-48279400	Enhancers	Primary neutrophils fromperipheralblood	blood
42	chr3:48278000-48279400	Enhancers	NHDF-Ad	bronchial
43	chr3:48278000-48282000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:48278000-48282200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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