Variant report

Variant	rs625691
Chromosome Location	chr12:45086211-45086212
allele	G/T
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	0.96[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10748402	0.81[EUR][1000 genomes]
rs10785518	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10785520	0.96[CEU][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs10785521	0.83[EUR][1000 genomes]
rs10785522	0.81[EUR][1000 genomes]
rs10785523	0.81[EUR][1000 genomes]
rs10785524	0.81[EUR][1000 genomes]
rs10785525	0.81[EUR][1000 genomes]
rs10785526	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs10785527	0.96[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes]
rs10880665	0.83[EUR][1000 genomes]
rs10880667	0.83[EUR][1000 genomes]
rs10880668	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10880669	0.83[EUR][1000 genomes]
rs10880670	0.83[EUR][1000 genomes]
rs10880671	0.83[EUR][1000 genomes]
rs10880672	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs10880674	0.82[EUR][1000 genomes]
rs10880675	0.81[EUR][1000 genomes]
rs10880676	0.81[EUR][1000 genomes]
rs11182562	0.87[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs12302273	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12829763	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1450540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1470803	0.83[CEU][hapmap];0.91[YRI][hapmap]
rs17094882	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2060898	0.83[CEU][hapmap]
rs2060899	0.83[CEU][hapmap]
rs2084614	0.96[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.81[YRI][hapmap];0.80[AMR][1000 genomes]
rs2218943	0.96[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2408047	0.87[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.82[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2408048	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3858729	0.83[EUR][1000 genomes]
rs4768067	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4768569	0.82[EUR][1000 genomes]
rs586188	0.96[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs590905	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs617006	0.96[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.81[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs632893	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633526	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs641782	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs655191	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6582514	0.81[EUR][1000 genomes]
rs6582515	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs683285	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]
rs686110	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7299592	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7304431	0.83[CEU][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes]
rs765770	0.92[YRI][hapmap]
rs838975	0.99[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	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

No data

Chromatin state (count:14 , 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	chr12:45078800-45095600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr12:45080800-45136000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:45081400-45088200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:45081400-45115600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr12:45081600-45106800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:45081800-45103000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:45083200-45110000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:45084000-45088200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:45084800-45096600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr12:45085400-45090400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr12:45085400-45092000	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:45085400-45101000	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr12:45085400-45105800	Weak transcription	Fetal Brain Female	brain

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