Variant report

Variant	rs12042565
Chromosome Location	chr1:70849794-70849795
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:70839310..70841277-chr1:70849783..70852714,2	K562	blood:
2	chr1:70820531..70823432-chr1:70848503..70850036,2	K562	blood:
3	chr1:70849624..70852232-chr1:70867745..70869479,2	K562	blood:
4	chr1:70848238..70850108-chr1:70856296..70858935,2	K562	blood:

Variant related genes	Relation type
ENSG00000197568	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10465863	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11209600	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11209602	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11209603	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11209608	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11209611	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11800138	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12028257	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12029977	0.82[AMR][1000 genomes]
rs12030275	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12031053	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12034101	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12036256	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12037272	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12565458	0.89[AMR][1000 genomes]
rs12565460	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1327873	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17131276	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17131285	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1969953	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4560989	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4650038	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4650041	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4650047	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56211824	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58997663	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59821213	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs60602940	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61122312	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61587863	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs61678482	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6686181	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72678630	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72678644	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72678645	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72678646	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72680732	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7539544	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs768433	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs998523	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[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	nsv999219	chr1:70730556-71014911	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	nsv830137	chr1:70765921-70958718	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12042565	HHLA3	Cis_1M	lymphoblastoid	RTeQTL
rs12042565	SFRS11	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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