Variant report

Variant	rs73147758
Chromosome Location	chr4:55011390-55011391
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	chr4:55011296..55011796-chr9:131873114..131873945,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000119383	Chromatin interaction
ENSG00000095321	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17083988	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17838983	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs33988725	1.00[AMR][1000 genomes]
rs58015793	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60639295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61510049	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6818057	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6829176	1.00[ASN][1000 genomes]
rs73147749	0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73147754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73147760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73147780	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73147784	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73818173	1.00[ASN][1000 genomes]
rs7657528	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7658546	1.00[ASN][1000 genomes]
rs7660482	1.00[AMR][1000 genomes]
rs7668948	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7689472	1.00[ASN][1000 genomes]
rs7691475	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7696276	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7696283	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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	nsv879018	chr4:54714753-55030375	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1003167	chr4:54732051-55081905	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv537096	chr4:54732051-55081905	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv594203	chr4:54960005-55030375	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
5	nsv879020	chr4:54986912-55064573	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55010000-55011800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr4:55010000-55012400	Enhancers	Fetal Thymus	thymus
3	chr4:55010000-55012600	Enhancers	Thymus	Thymus
4	chr4:55010200-55011600	Enhancers	Primary T cells from cord blood	blood
5	chr4:55010400-55011600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:55010400-55012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:55010400-55012600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:55010600-55011800	Enhancers	Primary hematopoietic stem cells	blood
9	chr4:55010800-55011400	Bivalent Enhancer	Stomach Mucosa	stomach
10	chr4:55010800-55011600	Enhancers	Dnd41	blood
11	chr4:55010800-55011600	Enhancers	HepG2	liver
12	chr4:55010800-55012400	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr4:55011000-55011600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:55011000-55011600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr4:55011000-55011800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr4:55011200-55011600	Enhancers	Gastric	stomach
17	chr4:55011200-55011600	Enhancers	HSMMtube	muscle
18	chr4:55011200-55011800	Enhancers	HSMM	muscle

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