Variant report

Variant	rs1466862
Chromosome Location	chr5:36791812-36791813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:36791798..36793386-chr5:36796897..36798791,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12657771	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13158310	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13170811	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13180309	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs150380	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs151944	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs158622	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158623	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs158624	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs158791	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs158796	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs158803	0.88[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs159749	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs159751	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs159753	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs159755	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs168662	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs184182	0.86[ASN][1000 genomes]
rs292171	0.81[YRI][hapmap]
rs292172	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs292182	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs292183	0.90[ASN][1000 genomes]
rs292184	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs292194	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs292195	0.87[CEU][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs296962	0.88[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs300060	0.85[ASN][1000 genomes]
rs300061	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300063	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs300064	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs300065	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3104057	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6899155	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv527961	chr5:36781051-36828730	Enhancers Weak transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1466862	SLC1A3	cis	lymphoblastoid	seeQTL
rs1466862	TTC23L	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36791000-36792400	Weak transcription	HSMMtube	muscle
2	chr5:36791400-36795800	Weak transcription	Fetal Muscle Leg	muscle
3	chr5:36791800-36792800	Weak transcription	Psoas Muscle	Psoas

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