Variant report

Variant	rs1852644
Chromosome Location	chr2:73597718-73597719
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	chr2:73596191..73598481-chr2:73612504..73614239,2	K562	blood:

Variant related genes	Relation type
ENSG00000116127	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10165862	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10175529	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10184268	0.82[AMR][1000 genomes]
rs10206188	0.86[ASN][1000 genomes]
rs11126395	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11126396	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11126399	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11689392	0.84[AMR][1000 genomes]
rs11693531	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11898362	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12465867	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1403412	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1522926	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1534471	0.80[AMR][1000 genomes]
rs1851546	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2091022	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2421550	0.80[AMR][1000 genomes]
rs2901437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35885918	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6546824	0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6546826	0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6546827	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6546829	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6706235	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6706409	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6710659	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6716776	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6728128	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741067	0.81[AMR][1000 genomes]
rs6747145	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6748040	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7560272	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7567017	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7567343	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7573275	0.83[ASN][1000 genomes]
rs7576824	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7604588	0.86[EUR][1000 genomes];0.88[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	nsv2778	chr2:73596272-73615138	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
2	nsv961794	chr2:73596795-73598813	Enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1852644	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs1852644	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs1852644	ALMS1P	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73597600-73598000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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