Variant report

Variant	rs859637
Chromosome Location	chr1:172711000-172711001
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172703675..172705783-chr1:172709623..172711421,2	K562	blood:
2	chr1:172710406..172712231-chr1:172726192..172728085,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10912460	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1102704	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1102706	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1102707	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11581258	0.82[JPT][hapmap]
rs11587368	0.89[CHD][hapmap];0.82[JPT][hapmap]
rs12136569	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs704845	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859618	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs859619	0.84[EUR][1000 genomes]
rs859621	0.89[CEU][hapmap];0.88[CHB][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs859622	0.80[TSI][hapmap]
rs859623	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs859629	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs859631	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs859633	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs859634	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859636	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859638	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859639	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859641	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859643	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859644	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859647	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859648	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859673	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs863578	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs974856	0.82[JPT][hapmap]

Variant related diseases (count:1)

Disease	PMID	Source
Celiac disease	20190752	GWAS catalog

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs859637	SELP	cis	cerebellum	SCAN
rs859637	C1orf114	cis	cerebellum	SCAN
rs859637	ATP1B1	cis	cerebellum	SCAN
rs859637	SLC9A11	cis	parietal	SCAN
rs859637	C1orf112	cis	parietal	SCAN
rs859637	CD247	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172693400-172712200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:172711000-172711400	Enhancers	Primary T cells from cord blood	blood
3	chr1:172711000-172711400	Enhancers	Primary T helper cells PMA-I stimulated	--

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