Variant report

Variant	rs12681237
Chromosome Location	chr8:122145935-122145936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:122110527..122112436-chr8:122144352..122146257,2	MCF-7	breast:
2	chr8:122139349..122141045-chr8:122144166..122146636,2	K562	blood:
3	chr8:122145198..122146029-chr8:122162984..122163685,2	MCF-7	breast:
4	chr8:122145319..122150737-chr8:122156091..122160331,6	MCF-7	breast:
5	chr8:122142074..122144546-chr8:122144570..122146838,3	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10100190	0.93[ASN][1000 genomes]
rs10101113	0.95[ASN][1000 genomes]
rs10109367	0.96[ASN][1000 genomes]
rs10109502	0.90[ASN][1000 genomes]
rs10109711	0.92[ASN][1000 genomes]
rs10956005	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11997916	0.95[ASN][1000 genomes]
rs12547780	0.93[ASN][1000 genomes]
rs12681217	1.00[ASN][1000 genomes]
rs12682637	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13252222	0.97[ASN][1000 genomes]
rs13262055	0.97[ASN][1000 genomes]
rs1368594	0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1368595	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1368605	0.94[ASN][1000 genomes]
rs1433392	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1504638	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1821323	0.95[ASN][1000 genomes]
rs1836070	1.00[ASN][1000 genomes]
rs2019363	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2082534	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2134932	0.93[ASN][1000 genomes]
rs2134933	0.93[ASN][1000 genomes]
rs2202382	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2202383	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2386265	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2386266	0.96[ASN][1000 genomes]
rs28738104	1.00[ASN][1000 genomes]
rs2891977	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34173371	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35517836	0.95[ASN][1000 genomes]
rs35627384	0.88[ASN][1000 genomes]
rs4145811	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4282580	0.94[ASN][1000 genomes]
rs4424262	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4560798	0.92[ASN][1000 genomes]
rs4610754	0.93[ASN][1000 genomes]
rs4870759	0.96[ASN][1000 genomes]
rs4870760	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4870761	0.95[ASN][1000 genomes]
rs4871163	0.91[ASN][1000 genomes]
rs4871164	0.93[ASN][1000 genomes]
rs4871165	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871166	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4871167	0.94[ASN][1000 genomes]
rs4871169	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61074667	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6469994	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67731008	0.84[EUR][1000 genomes]
rs6997513	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7016750	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7016899	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017023	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017048	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7357563	0.97[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	nsv465790	chr8:121853405-122185415	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612114	chr8:121853405-122185415	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891424	chr8:121873345-122393258	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	esv1844734	chr8:121928250-122283585	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3330574	chr8:122039099-122386130	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv891426	chr8:122078334-122393258	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:122142000-122146800	Enhancers	Fetal Lung	lung
2	chr8:122143400-122147600	Enhancers	Fetal Stomach	stomach
3	chr8:122145000-122146000	Weak transcription	Fetal Brain Female	brain
4	chr8:122145600-122146600	Weak transcription	Fetal Muscle Leg	muscle

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