Variant report

Variant	rs73364034
Chromosome Location	chr21:40744651-40744652
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Variant related genes	Relation type
ENSG00000185658	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000205581	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1554934	0.85[EUR][1000 genomes]
rs2836994	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2836997	0.81[EUR][1000 genomes]
rs4818031	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4818032	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4818033	0.90[EUR][1000 genomes]
rs59805871	0.83[EUR][1000 genomes]
rs9974653	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1056452	chr21:40741893-40782587	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs73364034	LCA5L	cis	lung	GTEx
rs73364034	LCA5L	cis	Esophagus Mucosa	GTEx
rs73364034	LCA5L	cis	Nerve Tibial	GTEx
rs73364034	LCA5L	cis	Artery Tibial	GTEx
rs73364034	SH3BGR	cis	Skin Sun Exposed Lower leg	GTEx
rs73364034	WRB	cis	Artery Tibial	GTEx
rs73364034	WRB	cis	Esophagus Muscularis	GTEx
rs73364034	LCA5L	cis	Thyroid	GTEx
rs73364034	WRB	cis	Skin Sun Exposed Lower leg	GTEx
rs73364034	WRB	cis	lung	GTEx
rs73364034	WRB	cis	Thyroid	GTEx
rs73364034	WRB	cis	Whole Blood	GTEx
rs73364034	WRB	cis	Adipose Subcutaneous	GTEx
rs73364034	WRB	cis	Nerve Tibial	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40742800-40745400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr21:40743000-40745400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr21:40743000-40745400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr21:40743000-40745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr21:40743000-40745800	Weak transcription	HepG2	liver
6	chr21:40743000-40751600	Weak transcription	Duodenum Mucosa	Duodenum
7	chr21:40743200-40745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr21:40743200-40745400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr21:40743200-40745600	Weak transcription	K562	blood
10	chr21:40743400-40745200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr21:40743600-40745200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr21:40743600-40745200	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr21:40743600-40745400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr21:40744400-40745800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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