Variant report

Variant	rs4614493
Chromosome Location	chr12:60331751-60331752
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10160895	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10160973	0.91[EUR][1000 genomes]
rs10161437	0.91[EUR][1000 genomes]
rs10735882	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10747861	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784010	0.91[EUR][1000 genomes]
rs10784014	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784015	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10784022	0.89[ASN][1000 genomes]
rs10877360	0.91[EUR][1000 genomes]
rs10877361	0.91[EUR][1000 genomes]
rs10877362	0.91[EUR][1000 genomes]
rs10877363	0.91[EUR][1000 genomes]
rs10877364	0.90[EUR][1000 genomes]
rs10877365	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173205	0.91[EUR][1000 genomes]
rs11173206	0.89[EUR][1000 genomes]
rs11173207	0.91[EUR][1000 genomes]
rs11173208	0.91[EUR][1000 genomes]
rs11173212	0.91[EUR][1000 genomes]
rs11173217	0.91[EUR][1000 genomes]
rs11173225	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173226	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173227	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173228	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173229	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11173231	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173233	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11173268	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173276	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173291	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173292	0.90[CHB][hapmap]
rs11173302	0.89[ASN][1000 genomes]
rs11609497	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11609524	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303323	0.91[EUR][1000 genomes]
rs12304178	0.91[EUR][1000 genomes]
rs12309079	0.91[EUR][1000 genomes]
rs12309131	0.91[EUR][1000 genomes]
rs12320040	0.91[EUR][1000 genomes]
rs12322528	0.91[EUR][1000 genomes]
rs12322648	0.91[EUR][1000 genomes]
rs12370452	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12372035	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12423658	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12820688	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1602835	0.89[ASN][1000 genomes]
rs34089860	0.90[EUR][1000 genomes]
rs34528640	0.90[EUR][1000 genomes]
rs34615410	0.86[EUR][1000 genomes]
rs35425604	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36112146	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4288788	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4291710	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4363643	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4492855	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4534617	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4623940	0.91[EUR][1000 genomes]
rs4758736	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4758874	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758878	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4758879	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5026694	0.91[EUR][1000 genomes]
rs61935612	0.91[EUR][1000 genomes]
rs6581285	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6581296	0.85[ASN][1000 genomes]
rs7303843	0.92[EUR][1000 genomes]
rs7954965	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7965070	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs968106	0.87[ASN][1000 genomes]
rs9943708	0.96[EUR][1000 genomes]
rs9943716	0.97[EUR][1000 genomes]
rs9943772	0.91[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	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
2	esv3365928	chr12:60042531-60343212	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2751107	chr12:60252000-60353533	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv826393	chr12:60293625-60359283	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60330800-60333400	Enhancers	Fetal Heart	heart
2	chr12:60331000-60332200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:60331200-60332200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
4	chr12:60331200-60332200	Enhancers	A549	lung
5	chr12:60331400-60332600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr12:60331400-60332600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:60331400-60334400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:60331600-60332600	Enhancers	HUES48 Cell Line	embryonic stem cell

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