Variant report

Variant	rs1552343
Chromosome Location	chr12:30297651-30297652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10771638	0.97[EUR][1000 genomes]
rs10771639	0.86[EUR][1000 genomes]
rs10771640	0.87[EUR][1000 genomes]
rs10771641	0.80[EUR][1000 genomes]
rs10771642	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10771647	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10771648	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10843617	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10843618	0.85[EUR][1000 genomes]
rs10843619	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843620	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10843627	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11050669	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11050670	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11050672	0.85[EUR][1000 genomes]
rs11050673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11050674	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050675	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12366875	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12368648	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1385562	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1385563	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1485425	0.86[EUR][1000 genomes]
rs1552342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1552344	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1909182	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1909183	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2171038	0.99[EUR][1000 genomes]
rs2200410	0.99[EUR][1000 genomes]
rs2200412	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2351209	0.86[EUR][1000 genomes]
rs2351210	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2351211	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3959917	0.97[EUR][1000 genomes]
rs4244851	0.85[EUR][1000 genomes]
rs4930885	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930886	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930888	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4930889	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4930890	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4931264	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4931265	0.97[EUR][1000 genomes]
rs4931266	0.97[EUR][1000 genomes]
rs4931268	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4931271	0.85[EUR][1000 genomes]
rs6487880	0.85[EUR][1000 genomes]
rs6487881	0.85[EUR][1000 genomes]
rs72640154	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7296068	0.85[EUR][1000 genomes]
rs7297032	0.81[EUR][1000 genomes]
rs7299613	0.99[EUR][1000 genomes]
rs7310880	0.85[EUR][1000 genomes]
rs7311139	0.85[EUR][1000 genomes]
rs7313801	0.99[EUR][1000 genomes]
rs8181729	0.85[EUR][1000 genomes]
rs901075	0.87[EUR][1000 genomes]
rs901076	0.87[EUR][1000 genomes]
rs901077	0.87[EUR][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	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv821695	chr12:30287314-30450174	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1050757	chr12:30288879-30329142	Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1035561	chr12:30288879-30336486	Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30294400-30297800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:30297200-30299200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:30297200-30299200	Enhancers	HSMM	muscle
4	chr12:30297400-30298600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr12:30297400-30299200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:30297400-30299400	Enhancers	NHDF-Ad	bronchial
7	chr12:30297600-30298400	Enhancers	Fetal Brain Female	brain
8	chr12:30297600-30298800	Enhancers	Brain Germinal Matrix	brain
9	chr12:30297600-30299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr12:30297600-30299200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:30297600-30300600	Enhancers	HSMMtube	muscle

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