Variant report

Variant	rs724995
Chromosome Location	chr12:73072959-73072960
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10748204	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10784982	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10784983	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10784984	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879478	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10879479	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10879480	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879481	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879483	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10879484	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11179326	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11179331	0.81[EUR][1000 genomes]
rs11179332	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11179335	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11179337	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11179338	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11609154	0.84[ASN][1000 genomes]
rs11610992	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11615014	0.84[ASN][1000 genomes]
rs12299032	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12305961	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12312622	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12317266	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12423680	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1433251	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1490500	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1490501	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1807989	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1835865	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4572181	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60748198	0.82[EUR][1000 genomes]
rs724275	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7295380	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7305043	0.81[EUR][1000 genomes]
rs7954980	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7955144	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963322	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7963425	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7963617	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7964348	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7968289	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7976791	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9652038	0.83[ASN][1000 genomes]
rs970240	0.84[EUR][1000 genomes]
rs9919777	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422452	chr12:72485933-73175581	Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv899257	chr12:72569746-73145896	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1044083	chr12:72647640-73275526	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv469465	chr12:72655925-73259114	Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv559363	chr12:72655925-73259114	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv868884	chr12:72664763-73241518	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv817280	chr12:72820558-73508605	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv832454	chr12:72940798-73081180	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv2758314	chr12:72990707-73251109	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2759908	chr12:72990707-73251109	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv868885	chr12:72998553-73587081	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv1048951	chr12:73018354-73151893	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv1052520	chr12:73018354-73181472	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells	blood
2	chr12:73070400-73073400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:73071600-73075800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:73072200-73073200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:73072400-73073400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:73072600-73073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:73072800-73074400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:73072800-73074800	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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