Variant report

Variant	rs285421
Chromosome Location	chr1:165500350-165500351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr1:165500299-165500499	HepG2	liver:	n/a	chr1:165500355-165500366 chr1:165500355-165500366 chr1:165500350-165500365
2	STAT3	chr1:165500234-165500402	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr1:165500263-165500465	HepG2	liver:	n/a	chr1:165500355-165500366 chr1:165500355-165500366 chr1:165500350-165500365

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:165480828..165483670-chr1:165500006..165502209,2	K562	blood:

Variant related genes	Relation type
ENSG00000237463	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1011469	0.81[ASN][1000 genomes]
rs1025159	0.86[ASN][1000 genomes]
rs1157861	0.88[ASN][1000 genomes]
rs12117066	0.91[ASN][1000 genomes]
rs12126717	0.91[ASN][1000 genomes]
rs12137629	0.88[ASN][1000 genomes]
rs12143824	0.81[ASN][1000 genomes]
rs12143868	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1326374	0.91[ASN][1000 genomes]
rs1409413	0.83[ASN][1000 genomes]
rs1425753	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846547	0.90[ASN][1000 genomes]
rs16846623	0.91[ASN][1000 genomes]
rs16846756	0.88[ASN][1000 genomes]
rs16847073	0.83[ASN][1000 genomes]
rs16847083	0.83[ASN][1000 genomes]
rs16847085	0.83[ASN][1000 genomes]
rs16847110	0.83[ASN][1000 genomes]
rs2152818	0.81[ASN][1000 genomes]
rs2252342	0.83[ASN][1000 genomes]
rs2478262	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2553637	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2766083	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs285422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs285435	0.88[ASN][1000 genomes]
rs285438	0.88[ASN][1000 genomes]
rs285462	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs285464	0.82[EUR][1000 genomes]
rs285467	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs285468	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs285473	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs285474	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs285478	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs285479	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401457	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41267552	0.81[ASN][1000 genomes]
rs41267554	0.81[ASN][1000 genomes]
rs55957417	0.81[ASN][1000 genomes]
rs56201005	0.81[ASN][1000 genomes]
rs56277222	0.83[ASN][1000 genomes]
rs57799548	0.85[ASN][1000 genomes]
rs58058936	0.81[ASN][1000 genomes]
rs6662135	0.90[ASN][1000 genomes]
rs6669449	0.91[ASN][1000 genomes]
rs6696050	0.81[ASN][1000 genomes]
rs722260	0.81[ASN][1000 genomes]
rs72693816	0.91[ASN][1000 genomes]
rs72693826	0.91[ASN][1000 genomes]
rs74120755	0.88[ASN][1000 genomes]
rs7521982	0.88[ASN][1000 genomes]
rs7533908	0.88[ASN][1000 genomes]
rs7535829	0.88[ASN][1000 genomes]
rs7535979	0.88[ASN][1000 genomes]
rs7539622	0.91[ASN][1000 genomes]
rs927844	0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs285421	LRRC52	cis	Esophagus Muscularis	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165497000-165501400	Weak transcription	Left Ventricle	heart
2	chr1:165497200-165501400	Weak transcription	Right Ventricle	heart
3	chr1:165499200-165501800	Enhancers	Fetal Heart	heart
4	chr1:165499400-165502800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:165499400-165504200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr1:165499600-165500400	Weak transcription	Right Atrium	heart
7	chr1:165499800-165500800	Weak transcription	Psoas Muscle	Psoas
8	chr1:165500000-165500400	Enhancers	Fetal Lung	lung
9	chr1:165500000-165501000	Enhancers	Liver	Liver
10	chr1:165500000-165503000	Enhancers	Fetal Muscle Leg	muscle
11	chr1:165500200-165500800	Enhancers	Adipose Nuclei	Adipose

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