Variant report

Variant	rs10785518
Chromosome Location	chr12:45109646-45109647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10748401	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10748402	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785520	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785521	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785522	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785523	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785524	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785525	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10785526	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10785527	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10880665	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880667	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880668	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880669	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880670	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880671	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880672	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880674	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10880675	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10880676	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12302273	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12829763	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1450540	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1450551	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17094882	0.80[AFR][1000 genomes]
rs1711839	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2084614	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2218943	0.82[AFR][1000 genomes]
rs2408047	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2408048	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3858729	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4768067	0.81[AFR][1000 genomes]
rs4768569	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs586188	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs590905	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs617006	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs625691	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs632893	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs633526	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs641782	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs655191	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6582514	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6582515	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs683285	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs686110	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7299592	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7304431	0.80[AFR][1000 genomes]
rs838975	0.94[ASN][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	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

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:45065000-45116000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:45081400-45115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr12:45083200-45110000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:45088000-45110800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:45089000-45114200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr12:45090600-45110200	Weak transcription	Brain Germinal Matrix	brain
8	chr12:45091200-45110800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:45101200-45114000	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr12:45105200-45117000	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr12:45105400-45111000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:45105800-45111200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:45106600-45110600	Weak transcription	Fetal Brain Female	brain
14	chr12:45106800-45110600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:45109000-45110600	Weak transcription	Fetal Brain Male	brain
16	chr12:45109400-45110000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:45109400-45111600	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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