Variant report

Variant	rs12485486
Chromosome Location	chr3:87851677-87851678
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:87849890..87852917-chr3:87853922..87857395,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12488028	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12489435	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12490277	0.82[ASN][1000 genomes]
rs12633947	0.87[ASN][1000 genomes]
rs1489777	0.85[ASN][1000 genomes]
rs1489778	0.87[ASN][1000 genomes]
rs1489780	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1602152	0.85[ASN][1000 genomes]
rs1602154	0.85[ASN][1000 genomes]
rs17025015	0.85[ASN][1000 genomes]
rs1873210	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2010539	0.85[ASN][1000 genomes]
rs2029437	0.81[ASN][1000 genomes]
rs2046796	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2130351	0.87[ASN][1000 genomes]
rs2880695	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2919238	0.84[ASN][1000 genomes]
rs2919240	0.84[ASN][1000 genomes]
rs2919242	0.84[ASN][1000 genomes]
rs2919248	0.85[ASN][1000 genomes]
rs2932270	0.85[ASN][1000 genomes]
rs2932296	0.85[ASN][1000 genomes]
rs2932298	0.82[ASN][1000 genomes]
rs2932309	0.81[ASN][1000 genomes]
rs2932310	0.84[ASN][1000 genomes]
rs4630962	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4859104	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55754932	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55788242	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55807523	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56125632	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56169023	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56386821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57844811	0.87[ASN][1000 genomes]
rs67303034	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6779623	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7643136	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs923477	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv590918	chr3:87323334-87910931	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv877142	chr3:87630433-87854277	Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv877143	chr3:87630433-87860130	Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv834756	chr3:87763793-87938179	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1009981	chr3:87821573-88003956	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv536634	chr3:87821573-88003956	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12485486	HTR1F	cis	Thyroid	GTEx

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:87845600-87855800	Weak transcription	A549	lung
2	chr3:87849400-87852400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:87850800-87853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr3:87850800-87859200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr3:87851000-87855200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:87851000-87860800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:87851400-87854800	Enhancers	K562	blood
8	chr3:87851600-87851800	Bivalent Enhancer	Psoas Muscle	Psoas

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