Variant report

Variant	rs778457
Chromosome Location	chr3:23444619-23444620
allele	A/T
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	SPI1	chr3:23444397-23445027	GM12878	blood:	n/a	n/a
2	SPI1	chr3:23444603-23444965	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:23442881..23445378-chr3:23445759..23448586,2	K562	blood:
2	chr3:23442881..23445228-chr3:23445484..23447259,2	K562	blood:
3	chr3:23443862..23447627-chr3:23449749..23452969,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221506	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1692619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1692621	0.83[EUR][1000 genomes]
rs1695180	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1695205	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1874234	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874502	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1874503	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1994953	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2036044	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2101811	0.82[EUR][1000 genomes]
rs2132144	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2173057	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2359754	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3104242	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858068	0.96[EUR][1000 genomes]
rs4858070	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4858489	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4858490	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858495	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4858499	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4858507	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5023615	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6550758	0.85[EUR][1000 genomes]
rs6550759	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6550760	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6765758	0.94[EUR][1000 genomes]
rs6780388	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6790327	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6799132	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6801824	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs704535	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73138453	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7621680	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7637485	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7643705	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7653868	0.86[EUR][1000 genomes]
rs778458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778463	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs778469	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778483	0.81[EUR][1000 genomes]
rs778492	0.95[EUR][1000 genomes]
rs778497	0.93[EUR][1000 genomes]
rs778502	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs778525	0.82[EUR][1000 genomes]
rs778527	0.81[EUR][1000 genomes]
rs931609	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9757330	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9758590	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9815299	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9823684	0.81[EUR][1000 genomes]
rs9840808	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9841336	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9848389	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9849679	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9863465	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9875910	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002823	chr3:23277838-23623083	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1007373	chr3:23367952-23710331	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv876624	chr3:23385877-23483536	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv876625	chr3:23390301-23509597	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1012236	chr3:23408427-23469063	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1010032	chr3:23408985-23469063	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv236860	chr3:23442134-23445637	Enhancers Weak transcription Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23427000-23445000	Weak transcription	Right Ventricle	heart
2	chr3:23429800-23445400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:23431400-23447800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr3:23432200-23452600	Weak transcription	Aorta	Aorta
5	chr3:23433800-23459600	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr3:23435000-23448200	Weak transcription	Psoas Muscle	Psoas
7	chr3:23438600-23448200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr3:23442200-23446800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:23442400-23448200	Weak transcription	Fetal Heart	heart
10	chr3:23444000-23444800	Enhancers	Dnd41	blood
11	chr3:23444000-23445000	Enhancers	Primary T cells from cord blood	blood
12	chr3:23444000-23447000	Enhancers	Primary B cells from cord blood	blood
13	chr3:23444200-23444800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr3:23444200-23445600	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr3:23444200-23446400	Enhancers	GM12878-XiMat	blood
16	chr3:23444200-23447400	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:23444400-23445000	Enhancers	HSMMtube	muscle
18	chr3:23444400-23445200	Enhancers	Primary T cells fromperipheralblood	blood
19	chr3:23444400-23445200	Enhancers	Left Ventricle	heart
20	chr3:23444400-23445200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr3:23444400-23445400	Weak transcription	Brain Substantia Nigra	brain
22	chr3:23444600-23459400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr3:23444600-23467000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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