Variant report

Variant	rs1783446
Chromosome Location	chr11:56643039-56643040
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	chr11:56640294..56642115-chr11:56642674..56646805,4	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11828859	1.00[JPT][hapmap]
rs12419314	0.97[ASN][1000 genomes]
rs12421316	0.84[CHD][hapmap];1.00[JPT][hapmap]
rs1613887	1.00[ASN][1000 genomes]
rs1632332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17640885	0.81[ASN][1000 genomes]
rs1783444	1.00[ASN][1000 genomes]
rs1783445	1.00[ASN][1000 genomes]
rs1783447	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783450	0.97[ASN][1000 genomes]
rs1783451	1.00[ASN][1000 genomes]
rs1783459	0.99[ASN][1000 genomes]
rs1783465	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792494	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1792495	1.00[ASN][1000 genomes]
rs1792496	1.00[ASN][1000 genomes]
rs1792498	1.00[ASN][1000 genomes]
rs1792499	1.00[ASN][1000 genomes]
rs1792500	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1892787	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1938751	0.97[ASN][1000 genomes]
rs1938759	0.81[ASN][1000 genomes]
rs1938760	0.81[ASN][1000 genomes]
rs2226850	0.97[ASN][1000 genomes]
rs2226851	0.97[ASN][1000 genomes]
rs2374	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4939095	0.97[ASN][1000 genomes]
rs4939097	0.97[ASN][1000 genomes]
rs523098	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56210588	0.97[ASN][1000 genomes]
rs68039795	0.81[ASN][1000 genomes]
rs7111113	0.82[ASN][1000 genomes]
rs7118645	0.81[ASN][1000 genomes]
rs737368	0.81[ASN][1000 genomes]
rs7930832	0.97[ASN][1000 genomes]
rs7947879	0.81[ASN][1000 genomes]
rs947805	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048328	chr11:56471984-56649908	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	esv2830406	chr11:56481955-56650124	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv468577	chr11:56503728-56704042	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv555101	chr11:56503728-56704042	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv469960	chr11:56605222-56704042	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1045889	chr11:56624365-56737435	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1783446	OR8J1	cis	cerebellum	SCAN
rs1783446	OR8J1	cis	parietal	SCAN
rs1783446	ZDHHC5	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56640000-56644000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:56642000-56645200	Enhancers	Stomach Mucosa	stomach
3	chr11:56642800-56643200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:56642800-56646000	Weak transcription	Fetal Intestine Small	intestine

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