Variant report

Variant	rs12423682
Chromosome Location	chr12:40328415-40328416
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11174115	1.00[ASW][hapmap]
rs11174631	1.00[ASW][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs11564216	1.00[ASW][hapmap];0.95[MEX][hapmap]
rs12423983	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12425167	0.87[AMR][1000 genomes]
rs17559478	0.85[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17559800	1.00[LWK][hapmap];0.90[MEX][hapmap];0.87[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17560267	1.00[LWK][hapmap];0.88[AMR][1000 genomes]
rs17560365	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1874558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2173134	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28365669	1.00[JPT][hapmap]
rs28370602	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28370606	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28740171	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4768206	1.00[JPT][hapmap]
rs535458	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs545385	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs549790	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs566044	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs953493	1.00[LWK][hapmap];0.90[MEX][hapmap]

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	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
3	esv2757500	chr12:40299913-40331853	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
4	esv2759895	chr12:40299913-40331853	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
5	nsv1052202	chr12:40322607-40406760	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv8967	chr12:40327912-40330937	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40316200-40329400	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:40317800-40329200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:40323600-40337800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:40325400-40329600	Weak transcription	Ovary	ovary
5	chr12:40326400-40328800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:40326400-40330800	Weak transcription	Liver	Liver
7	chr12:40327400-40330600	Weak transcription	Aorta	Aorta
8	chr12:40328200-40332000	Enhancers	Rectal Mucosa Donor 31	rectum

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