Variant report

Variant	rs256549
Chromosome Location	chr2:190746107-190746108
allele	G/T
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	KAP1	chr2:190745271-190746227	U2OS	brain:	n/a	n/a
2	KAP1	chr2:190745311-190746219	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:190740527..190742741-chr2:190745619..190747127,2	K562	blood:

Variant related genes	Relation type
ENSG00000238641	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1030136	0.85[ASN][1000 genomes]
rs11686999	0.82[ASN][1000 genomes]
rs11688123	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12997257	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16832155	0.84[ASN][1000 genomes]
rs16832158	0.84[ASN][1000 genomes]
rs256539	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256540	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs256541	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256542	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs256550	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs256551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256552	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256556	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256562	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256563	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256564	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs256567	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs256572	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs256580	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4853634	0.83[ASN][1000 genomes]
rs4920654	0.84[ASN][1000 genomes]
rs4920660	0.86[ASN][1000 genomes]
rs4920662	0.83[ASN][1000 genomes]
rs5743112	0.83[ASN][1000 genomes]
rs5743116	0.81[ASN][1000 genomes]
rs5743117	0.81[ASN][1000 genomes]
rs5743202	0.84[ASN][1000 genomes]
rs5743208	0.84[ASN][1000 genomes]
rs6736360	0.82[ASN][1000 genomes]
rs733318	0.83[ASN][1000 genomes]
rs7593661	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7603201	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs256549	ASNSD1	cis	Esophagus Muscularis	GTEx
rs256549	ASNSD1	cis	Whole Blood	GTEx
rs256549	PMS1	Cis_1M	lymphoblastoid	RTeQTL
rs256549	ORMDL1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190742800-190746200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr2:190743200-190746400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:190744600-190746200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:190744600-190746200	Weak transcription	Fetal Brain Female	brain
5	chr2:190744600-190758200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:190745200-190746200	Enhancers	Fetal Kidney	kidney
7	chr2:190745600-190746200	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr2:190746000-190746200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:190746000-190746200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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