Variant report

Variant	rs1050176
Chromosome Location	chr4:76922749-76922750
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:76918050..76921353-chr4:76922033..76925702,4	K562	blood:
2	chr4:76918050..76921353-chr4:76922033..76925702,3	K562	blood:
3	chr4:76919294..76923061-chr4:76987395..76990335,3	MCF-7	breast:
4	chr4:76911789..76914461-chr4:76921418..76923355,3	K562	blood:

Variant related genes	Relation type
ENSG00000198301	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10222911	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10856871	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11097192	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12500200	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12511861	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1554015	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17001275	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17001284	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1910907	0.97[ASN][1000 genomes]
rs2869461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28703679	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3733236	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4859412	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs55964684	0.88[ASN][1000 genomes]
rs56039229	0.88[ASN][1000 genomes]
rs56316945	0.88[ASN][1000 genomes]
rs58909712	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs59559903	0.85[AMR][1000 genomes]
rs61279846	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6532084	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66477189	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs67210456	0.97[ASN][1000 genomes]
rs67297326	0.97[ASN][1000 genomes]
rs67413521	0.88[ASN][1000 genomes]
rs67687266	0.91[ASN][1000 genomes]
rs6828744	0.97[ASN][1000 genomes]
rs6834291	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs6847716	0.97[ASN][1000 genomes]
rs6857358	1.00[ASN][1000 genomes]
rs72651387	0.97[ASN][1000 genomes]
rs7349626	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7670156	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7671125	0.95[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7679689	0.82[ASN][1000 genomes]
rs7684879	0.82[ASN][1000 genomes]
rs7696286	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv529613	chr4:76654941-77081576	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1004627	chr4:76793910-76999584	Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1050176	ASAHL	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76912400-76932200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:76920400-76924200	Enhancers	Fetal Intestine Small	intestine
3	chr4:76920600-76924200	Enhancers	Fetal Intestine Large	intestine
4	chr4:76922000-76924200	Weak transcription	Pancreas	Pancrea

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