Variant report

Variant	rs12831914
Chromosome Location	chr12:20921022-20921023
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10841596	1.00[ASN][1000 genomes]
rs10841618	0.99[EUR][1000 genomes]
rs10841647	0.84[EUR][1000 genomes]
rs11045369	1.00[ASN][1000 genomes]
rs11045403	1.00[ASN][1000 genomes]
rs11045419	1.00[ASN][1000 genomes]
rs11045425	0.81[EUR][1000 genomes]
rs11045444	0.99[EUR][1000 genomes]
rs11045449	0.99[EUR][1000 genomes]
rs11045450	0.99[EUR][1000 genomes]
rs11045498	0.84[EUR][1000 genomes]
rs11494687	1.00[ASN][1000 genomes]
rs11608908	1.00[ASN][1000 genomes]
rs11610333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11613314	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614888	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11614998	0.86[EUR][1000 genomes]
rs12301524	0.84[EUR][1000 genomes]
rs12310705	0.99[EUR][1000 genomes]
rs12315003	0.84[EUR][1000 genomes]
rs12368457	1.00[ASN][1000 genomes]
rs12810377	1.00[ASN][1000 genomes]
rs12815346	1.00[ASN][1000 genomes]
rs12817904	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12818051	1.00[ASN][1000 genomes]
rs12818427	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12819654	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820092	1.00[ASN][1000 genomes]
rs12822246	1.00[ASN][1000 genomes]
rs12824927	1.00[ASN][1000 genomes]
rs12825151	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12831149	1.00[ASN][1000 genomes]
rs17617462	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34100556	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34274711	1.00[ASN][1000 genomes]
rs34671913	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34953944	1.00[ASN][1000 genomes]
rs35069963	1.00[ASN][1000 genomes]
rs35109738	0.86[EUR][1000 genomes]
rs35209399	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35495502	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35589427	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35628593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36132437	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373986	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7133446	0.81[EUR][1000 genomes]
rs71436838	1.00[ASN][1000 genomes]
rs71446716	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71446727	1.00[ASN][1000 genomes]
rs71446729	1.00[ASN][1000 genomes]
rs73082641	1.00[ASN][1000 genomes]
rs73240463	1.00[ASN][1000 genomes]
rs7952976	0.98[EUR][1000 genomes]
rs7964797	0.99[EUR][1000 genomes]
rs7978273	0.84[EUR][1000 genomes]
rs7980917	0.98[EUR][1000 genomes]
rs9804710	0.99[EUR][1000 genomes]
rs9804803	0.99[EUR][1000 genomes]
rs9805136	0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1054997	chr12:20682009-21292602	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1039951	chr12:20880417-20941238	Weak transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
5	esv17347	chr12:20892854-21029179	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1051454	chr12:20893994-20999635	Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv1040033	chr12:20914439-21078855	Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20892800-20922200	Weak transcription	Aorta	Aorta
2	chr12:20917000-20922200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:20917400-20921800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:20919200-20922200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:20921000-20921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:20921000-20921600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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