Variant report

Variant	rs59730643
Chromosome Location	chr12:7765180-7765181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10505732	0.86[AMR][1000 genomes]
rs10845548	0.82[ASN][1000 genomes]
rs11054527	0.84[AMR][1000 genomes]
rs11054533	0.84[AMR][1000 genomes]
rs11054543	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054544	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054545	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054546	0.86[AMR][1000 genomes]
rs11054547	0.83[AMR][1000 genomes]
rs11054548	0.82[AMR][1000 genomes]
rs11054552	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs11054553	0.86[AMR][1000 genomes]
rs11054554	0.86[AMR][1000 genomes]
rs11054555	0.86[AMR][1000 genomes]
rs11054556	0.86[AMR][1000 genomes]
rs11054590	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054592	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054595	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs11054598	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11054599	0.86[AMR][1000 genomes]
rs11054600	0.86[AMR][1000 genomes]
rs11054601	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs11054607	0.86[AMR][1000 genomes]
rs11054608	0.86[AMR][1000 genomes]
rs11054611	0.86[AMR][1000 genomes]
rs11054612	0.86[AMR][1000 genomes]
rs11054743	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11054908	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11054915	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11054916	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11054919	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11054939	0.81[ASN][1000 genomes]
rs11533528	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11537450	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11559770	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11561260	0.86[AMR][1000 genomes]
rs12227008	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12229540	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12229762	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12229835	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12231148	0.86[ASN][1000 genomes]
rs1419976	0.90[ASN][1000 genomes]
rs1419980	0.82[ASN][1000 genomes]
rs1558531	0.86[AMR][1000 genomes]
rs1558532	0.86[AMR][1000 genomes]
rs1558533	0.86[AMR][1000 genomes]
rs1833148	0.85[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1946125	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2004838	0.81[AFR][1000 genomes]
rs57562412	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6488490	0.86[AMR][1000 genomes]
rs6488498	0.86[AMR][1000 genomes]
rs6488499	0.86[AMR][1000 genomes]
rs7132588	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7134366	0.86[AMR][1000 genomes]
rs7136877	0.86[ASN][1000 genomes]
rs7137688	0.86[AMR][1000 genomes]
rs7295712	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7296689	0.85[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7301670	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7302914	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7303716	0.86[AMR][1000 genomes]
rs7314851	0.86[AMR][1000 genomes]
rs73256880	0.86[AMR][1000 genomes]
rs73256883	0.86[AMR][1000 genomes]
rs73260714	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73260715	0.82[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs752452	0.81[ASN][1000 genomes]
rs7955346	0.86[AMR][1000 genomes]
rs7959013	0.86[AMR][1000 genomes]
rs7959765	0.86[AMR][1000 genomes]
rs7969376	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7970227	0.86[AMR][1000 genomes]
rs7972470	0.86[AMR][1000 genomes]
rs7974405	0.86[AMR][1000 genomes]
rs7976359	0.86[AMR][1000 genomes]
rs7976907	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7980155	0.86[AMR][1000 genomes]
rs9634074	0.82[AMR][1000 genomes]
rs9634123	0.82[AMR][1000 genomes]
rs9634124	0.86[AMR][1000 genomes]
rs9634125	0.86[AMR][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	nsv1041155	chr12:7655137-7821891	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1045650	chr12:7655137-7824995	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv557270	chr12:7727544-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv468990	chr12:7729433-7801532	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv557271	chr12:7729433-7801532	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv826213	chr12:7730932-7830644	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv468991	chr12:7756706-7821692	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468992	chr12:7756706-7821692	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv557272	chr12:7756706-7821692	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv521149	chr12:7756706-7836988	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898643	chr12:7760124-7794736	Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv826214	chr12:7760127-7803262	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
13	esv1192102	chr12:7765151-7765183	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:7763400-7765200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:7764600-7765200	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr12:7764600-7765800	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr12:7765000-7765400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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