Variant report

Variant	rs683285
Chromosome Location	chr12:45058028-45058029
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10748401	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10748402	0.82[EUR][1000 genomes]
rs10785518	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10785520	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs10785521	0.84[EUR][1000 genomes]
rs10785522	0.82[EUR][1000 genomes]
rs10785523	0.82[EUR][1000 genomes]
rs10785524	0.82[EUR][1000 genomes]
rs10785525	0.82[EUR][1000 genomes]
rs10785526	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs10785527	1.00[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10880665	0.84[EUR][1000 genomes]
rs10880667	0.83[EUR][1000 genomes]
rs10880668	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10880669	0.83[EUR][1000 genomes]
rs10880670	0.84[EUR][1000 genomes]
rs10880671	0.84[EUR][1000 genomes]
rs10880672	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs10880674	0.83[EUR][1000 genomes]
rs10880675	0.81[EUR][1000 genomes]
rs10880676	0.82[EUR][1000 genomes]
rs11182562	0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs12302273	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12829763	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1450540	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1470803	0.91[CEU][hapmap];0.91[YRI][hapmap]
rs17094882	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2060898	0.91[CEU][hapmap]
rs2060899	0.91[CEU][hapmap];0.81[CHB][hapmap]
rs2084614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[YRI][hapmap]
rs2218943	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2408047	0.90[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.84[EUR][1000 genomes]
rs2408048	0.83[EUR][1000 genomes]
rs3858729	0.83[EUR][1000 genomes]
rs4768067	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4768569	0.83[EUR][1000 genomes]
rs586188	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590905	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs617006	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[YRI][hapmap];0.84[EUR][1000 genomes]
rs625691	0.95[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs632893	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs655191	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6582514	0.82[EUR][1000 genomes]
rs6582515	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs686110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7299592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7304431	0.91[CEU][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs765770	0.92[YRI][hapmap]
rs838975	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv430506	chr12:45003342-45072343	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	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	chr12:45031600-45059200	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr12:45044400-45062800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:45049400-45069000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:45050400-45061200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr12:45050800-45060000	Weak transcription	Fetal Brain Female	brain
6	chr12:45051800-45081200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr12:45055200-45060600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:45055200-45061600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr12:45055600-45062400	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:45056600-45059600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:45056600-45083800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:45057800-45067200	Weak transcription	Fetal Brain Male	brain

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