Variant report

Variant	rs73252601
Chromosome Location	chr8:60174400-60174401
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10504289	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10504290	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12155634	0.98[ASN][1000 genomes]
rs16924770	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4257993	0.98[ASN][1000 genomes]
rs4371993	0.97[ASN][1000 genomes]
rs4412358	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4475464	0.99[ASN][1000 genomes]
rs4478560	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4515537	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4562302	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4737538	0.83[AMR][1000 genomes]
rs4738761	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4738762	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57150798	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59604889	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60762860	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs68188343	0.97[ASN][1000 genomes]
rs73248443	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73248445	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73248446	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73254103	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9643508	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[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	nsv831328	chr8:60062971-60288276	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1029441	chr8:60099776-60539141	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv539629	chr8:60099776-60539141	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv831329	chr8:60162977-60356031	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs73252601	RP11-25K19.1	cis	Heart Left Ventricle	GTEx

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60173000-60177400	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:60173200-60176000	Enhancers	GM12878-XiMat	blood
3	chr8:60173200-60176600	Enhancers	Primary B cells from cord blood	blood
4	chr8:60173200-60177000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr8:60173200-60179800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr8:60173400-60174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:60173400-60174400	Enhancers	Fetal Brain Male	brain
8	chr8:60173800-60174800	Enhancers	Hela-S3	cervix
9	chr8:60173800-60176600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:60174000-60174400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr8:60174000-60174800	Enhancers	HMEC	breast
12	chr8:60174000-60175000	Enhancers	HUVEC	blood vessel
13	chr8:60174400-60176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:60174400-60176400	Weak transcription	Fetal Brain Male	brain
15	chr8:60174400-60177400	Enhancers	Primary hematopoietic stem cells short term culture	blood

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