Variant report

Variant	rs1711839
Chromosome Location	chr12:45133510-45133511
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10748401	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10748402	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10785518	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10785520	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10785521	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10785522	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10785523	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785524	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10785525	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10785526	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10785527	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10880665	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10880667	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880668	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880669	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880670	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880671	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880672	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10880674	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10880675	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10880676	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1450540	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1450551	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2084614	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2408047	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2408048	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3858729	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4768569	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs590905	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617006	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs641782	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs655191	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6582514	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6582515	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs686110	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3378050	chr12:44963059-45264289	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv832394	chr12:45077573-45269305	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
4	nsv1049080	chr12:45097564-45195295	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
5	nsv1036926	chr12:45131884-45273648	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
6	nsv541484	chr12:45131884-45273648	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:45123400-45142400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:45127400-45134800	Weak transcription	Fetal Brain Female	brain
4	chr12:45127400-45136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr12:45129400-45133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr12:45130000-45133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:45131000-45134800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45132400-45133600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:45132800-45134400	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:45133000-45134200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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