Variant report

Variant	rs10146658
Chromosome Location	chr14:55343067-55343068
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10133449	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10134163	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10145097	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12147422	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17128050	0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28477407	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28542181	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28757745	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34429973	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4363780	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4402455	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57575708	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61702394	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7141319	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7141433	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73280512	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7492600	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010689	0.84[EUR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10146658	GCH1	cis	Whole Blood	GTEx
rs10146658	GCH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
2	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:55331800-55344800	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr14:55333200-55343800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr14:55334000-55346200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr14:55337000-55343600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:55337200-55345000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr14:55337400-55346000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:55337400-55346200	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr14:55337400-55347800	Weak transcription	HSMMtube	muscle
12	chr14:55337600-55346400	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr14:55337600-55348600	Weak transcription	Hela-S3	cervix
14	chr14:55337800-55345600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:55338000-55343200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:55338000-55346000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:55338200-55344000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:55338400-55344600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr14:55341000-55345800	Weak transcription	Liver	Liver
20	chr14:55341800-55343400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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