Variant report

Variant	rs10754673
Chromosome Location	chr1:239718925-239718926
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10127769	0.90[EUR][1000 genomes]
rs10754674	0.90[EUR][1000 genomes]
rs10754675	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10802773	0.85[ASN][1000 genomes]
rs10802775	0.90[ASN][1000 genomes]
rs10802776	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10802777	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10802779	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10802780	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10925916	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10925921	0.91[EUR][1000 genomes]
rs10925926	0.92[EUR][1000 genomes]
rs12034521	0.97[ASN][1000 genomes]
rs12089818	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12118974	0.92[EUR][1000 genomes]
rs12123624	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12402224	0.90[EUR][1000 genomes]
rs1338914	0.93[ASN][1000 genomes]
rs1416378	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1416379	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1538442	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16838528	0.93[ASN][1000 genomes]
rs1867262	0.90[EUR][1000 genomes]
rs1899620	0.93[ASN][1000 genomes]
rs4376722	0.90[EUR][1000 genomes]
rs4507997	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4659547	0.90[EUR][1000 genomes]
rs4659920	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6670526	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6670728	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7526165	0.90[EUR][1000 genomes]
rs997148	0.90[EUR][1000 genomes]
rs997538	0.90[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	nsv1002301	chr1:239182255-239774393	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv549435	chr1:239375010-239974006	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3377526	chr1:239623743-240111639	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv873351	chr1:239636613-240324200	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:239710800-239720600	Weak transcription	Stomach Mucosa	stomach
2	chr1:239712000-239731000	Weak transcription	Gastric	stomach
3	chr1:239718400-239719200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:239718400-239719200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:239718400-239719400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:239718400-239719400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:239718400-239719400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:239718400-239719400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:239718600-239719000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr1:239718600-239719200	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr1:239718600-239719800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:239718800-239719200	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:239718800-239719200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:239718800-239719200	Enhancers	Colon Smooth Muscle	Colon
15	chr1:239718800-239719400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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