Variant report

Variant	rs5014539
Chromosome Location	chr1:172485753-172485754
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:172484339..172486754-chr1:172500823..172503180,2	MCF-7	breast:
2	chr1:172485002..172486820-chr1:172486838..172488718,2	K562	blood:
3	chr1:172483189..172485806-chr1:172499589..172502830,4	K562	blood:
4	chr1:172480916..172486057-chr1:172500075..172503818,11	MCF-7	breast:
5	chr1:172456081..172458698-chr1:172485174..172488166,2	K562	blood:
6	chr1:172483753..172487380-chr1:172490870..172493314,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000094975	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10157500	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10157519	0.98[ASN][1000 genomes]
rs10218613	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10489280	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10752994	0.81[ASN][1000 genomes]
rs10798040	0.99[ASN][1000 genomes]
rs10911856	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912058	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12087284	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2097498	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2285144	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2422144	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2472550	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2472552	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3752515	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3768444	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4145436	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6424973	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6686080	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6686157	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6695152	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7539231	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7539443	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9943276	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv947551	chr1:172485154-172490045	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5014539	SUCO	cis	Muscle Skeletal	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172480800-172487800	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr1:172484400-172487600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr1:172484600-172487600	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:172484600-172487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:172484800-172487800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:172485200-172486800	Weak transcription	K562	blood
7	chr1:172485200-172488400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:172485400-172486200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:172485400-172486600	Weak transcription	Primary hematopoietic stem cells	blood

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