Variant report

Variant	rs12467062
Chromosome Location	chr2:142309114-142309115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:142308972..142312076-chr2:142313360..142316898,3	K562	blood:
2	chr2:142303735..142305902-chr2:142307985..142310549,2	K562	blood:

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10169644	0.95[JPT][hapmap]
rs10173806	0.95[JPT][hapmap]
rs10204321	0.95[JPT][hapmap]
rs10928105	0.95[JPT][hapmap]
rs11681928	0.81[MEX][hapmap];0.81[TSI][hapmap]
rs11683772	0.82[ASN][1000 genomes]
rs11895715	0.95[JPT][hapmap]
rs12053264	0.95[JPT][hapmap]
rs12053266	0.95[JPT][hapmap]
rs12053570	0.95[JPT][hapmap]
rs12053574	0.95[JPT][hapmap]
rs12151429	0.95[JPT][hapmap]
rs12468830	0.95[CEU][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12472514	0.94[JPT][hapmap]
rs12476844	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12477753	1.00[CHB][hapmap];0.84[JPT][hapmap]
rs12478973	1.00[ASW][hapmap];0.96[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.94[LWK][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12611851	0.95[JPT][hapmap]
rs12612624	0.91[CEU][hapmap]
rs12615716	0.85[EUR][1000 genomes]
rs12621499	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13007713	0.91[JPT][hapmap]
rs13023434	0.95[JPT][hapmap];0.90[MEX][hapmap]
rs13030335	0.82[JPT][hapmap]
rs13031144	0.82[JPT][hapmap]
rs13418036	0.95[JPT][hapmap]
rs13418422	0.95[JPT][hapmap]
rs1483141	0.95[CHB][hapmap];1.00[JPT][hapmap]
rs16846151	0.95[JPT][hapmap]
rs16846467	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16846484	0.82[JPT][hapmap];0.86[EUR][1000 genomes]
rs16846521	0.91[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs16846522	0.91[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2170668	0.82[CEU][hapmap]
rs2200192	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap]
rs2381190	0.87[CEU][hapmap];0.90[MEX][hapmap];0.83[TSI][hapmap]
rs2890615	0.95[CEU][hapmap];0.82[JPT][hapmap]
rs4271710	0.95[JPT][hapmap]
rs4327189	0.95[JPT][hapmap]
rs4340449	0.95[JPT][hapmap];0.81[MEX][hapmap]
rs4384715	0.85[CHD][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs4430882	0.95[JPT][hapmap]
rs4476293	0.95[JPT][hapmap]
rs4507040	0.95[JPT][hapmap]
rs4544370	0.85[CHD][hapmap];1.00[JPT][hapmap]
rs4574055	0.82[JPT][hapmap];0.86[MEX][hapmap];0.81[TSI][hapmap]
rs4583399	0.95[JPT][hapmap]
rs4599051	0.95[JPT][hapmap];0.81[MEX][hapmap]
rs4644970	0.95[JPT][hapmap]
rs4954910	0.95[JPT][hapmap]
rs6429887	0.95[JPT][hapmap]
rs6429890	0.95[JPT][hapmap]
rs6725282	0.95[JPT][hapmap]
rs6729073	0.95[JPT][hapmap]
rs6738081	0.91[JPT][hapmap]
rs72853570	0.90[EUR][1000 genomes]
rs72855428	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7562751	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs7589997	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7593962	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.82[YRI][hapmap]
rs7597633	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv583203	chr2:142055133-142378975	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv875240	chr2:142199421-142347455	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv834393	chr2:142256714-142431564	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a
4	nsv583212	chr2:142263979-142309330	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
5	nsv459640	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv583213	chr2:142291211-142345574	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv583214	chr2:142299923-142458316	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	esv3412600	chr2:142306382-142310180	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:142306200-142312200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:142306400-142312200	Weak transcription	Brain Substantia Nigra	brain

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