Variant report

Variant	rs59728475
Chromosome Location	chr10:50342780-50342781
allele	C/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	SPI1	chr10:50342273-50342781	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50322283..50325786-chr10:50341748..50344745,3	K562	blood:

Variant related genes	Relation type
FAM170B-AS1	TF binding region
FAM170B	TF binding region
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11100995	0.96[ASN][1000 genomes]
rs11592541	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11592975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11594452	0.96[ASN][1000 genomes]
rs11597087	0.87[EUR][1000 genomes]
rs11597983	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11598768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12243520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782866	1.00[ASN][1000 genomes]
rs1806681	0.86[ASN][1000 genomes]
rs2246796	0.90[ASN][1000 genomes]
rs2377981	0.96[ASN][1000 genomes]
rs2377982	0.96[ASN][1000 genomes]
rs2377983	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2377984	0.96[ASN][1000 genomes]
rs3750744	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073200	0.96[ASN][1000 genomes]
rs4073201	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073202	0.96[ASN][1000 genomes]
rs41306832	0.96[ASN][1000 genomes]
rs4272720	0.90[ASN][1000 genomes]
rs4284329	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4838455	0.96[ASN][1000 genomes]
rs4838458	0.96[ASN][1000 genomes]
rs4838464	0.86[ASN][1000 genomes]
rs55687538	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55783415	0.93[ASN][1000 genomes]
rs55890352	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56364323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56737365	0.96[ASN][1000 genomes]
rs57286767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61060205	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081097	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7088006	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7094501	0.96[ASN][1000 genomes]
rs7097375	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73302715	0.96[ASN][1000 genomes]
rs73302716	0.96[ASN][1000 genomes]
rs73302780	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73302786	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304754	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs7895212	0.93[ASN][1000 genomes]
rs7924204	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50324000-50343600	Weak transcription	Right Atrium	heart
2	chr10:50336000-50344200	Enhancers	Fetal Muscle Leg	muscle
3	chr10:50340400-50343800	Weak transcription	K562	blood
4	chr10:50340400-50347600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50341600-50342800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:50341800-50344200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:50341800-50344200	Enhancers	Fetal Stomach	stomach
8	chr10:50341800-50344200	Enhancers	Fetal Thymus	thymus
9	chr10:50342000-50342800	Enhancers	Dnd41	blood
10	chr10:50342000-50344000	Enhancers	Right Ventricle	heart
11	chr10:50342200-50343200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:50342200-50343400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr10:50342200-50343600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr10:50342200-50344600	Enhancers	Primary B cells from cord blood	blood
15	chr10:50342200-50346200	Weak transcription	Left Ventricle	heart
16	chr10:50342200-50347000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr10:50342200-50349800	Enhancers	Fetal Lung	lung
18	chr10:50342400-50342800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr10:50342400-50343000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr10:50342400-50344000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:50342400-50344400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr10:50342400-50345400	Enhancers	Primary B cells from peripheral blood	blood
23	chr10:50342600-50342800	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr10:50342600-50342800	Enhancers	Psoas Muscle	Psoas
25	chr10:50342600-50343000	Bivalent/Poised TSS	Fetal Brain Male	brain
26	chr10:50342600-50344800	Enhancers	Adipose Nuclei	Adipose

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