Variant report

Variant	rs12362848
Chromosome Location	chr11:101344177-101344178
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10444351	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs10791472	0.83[AMR][1000 genomes]
rs10791473	0.80[AMR][1000 genomes]
rs10791474	0.82[AMR][1000 genomes]
rs10791475	0.82[AMR][1000 genomes]
rs10895109	0.83[AMR][1000 genomes]
rs10895110	0.82[AMR][1000 genomes]
rs10895112	0.80[AMR][1000 genomes]
rs10895113	0.82[AMR][1000 genomes]
rs10895114	0.82[AMR][1000 genomes]
rs11224768	0.82[AMR][1000 genomes]
rs11224769	0.82[AMR][1000 genomes]
rs11224770	0.82[AMR][1000 genomes]
rs11224771	0.82[AMR][1000 genomes]
rs11224779	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224780	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11224781	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap]
rs11224782	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11224783	0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11819801	0.83[AMR][1000 genomes]
rs11822192	0.84[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.94[TSI][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12362157	0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.88[TSI][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12366144	0.84[ASW][hapmap];1.00[CEU][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12786558	0.86[JPT][hapmap];0.85[ASN][1000 genomes]
rs12791865	1.00[JPT][hapmap]
rs12797690	0.82[AMR][1000 genomes]
rs12804595	0.83[AMR][1000 genomes]
rs3824933	0.83[AMR][1000 genomes]
rs4396256	0.82[AMR][1000 genomes]
rs4405276	0.82[AMR][1000 genomes]
rs4489713	0.82[AMR][1000 genomes]
rs4522135	0.82[AMR][1000 genomes]
rs6590860	0.82[AMR][1000 genomes]
rs6590861	0.82[AMR][1000 genomes]
rs6590862	0.82[AMR][1000 genomes]
rs6590864	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7105083	0.82[AMR][1000 genomes]
rs7110162	0.90[MEX][hapmap];0.82[AMR][1000 genomes]
rs7113655	0.83[AMR][1000 genomes]
rs7117447	1.00[JPT][hapmap]
rs7118253	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7120857	0.82[AMR][1000 genomes]
rs7121124	0.82[AMR][1000 genomes]
rs7928028	0.82[AMR][1000 genomes]
rs7928922	0.83[AMR][1000 genomes]
rs7930422	0.83[AMR][1000 genomes]
rs7931399	0.90[MEX][hapmap];0.83[AMR][1000 genomes]
rs7935581	0.90[MEX][hapmap];0.85[AMR][1000 genomes]
rs7936768	0.83[AMR][1000 genomes]
rs7942665	0.80[AMR][1000 genomes]
rs7947695	0.83[AMR][1000 genomes]
rs7948300	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7948687	1.00[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7950048	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv556131	chr11:100985777-101480017	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
2	nsv530644	chr11:101010088-101486038	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv898330	chr11:101243644-101722031	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv2830219	chr11:101319531-101382967	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12362848	DYNC2H1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:101314400-101352800	Weak transcription	Aorta	Aorta
2	chr11:101330200-101361400	Weak transcription	Fetal Lung	lung
3	chr11:101337800-101368200	Weak transcription	Ovary	ovary
4	chr11:101339800-101349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr11:101342200-101345400	Weak transcription	NHDF-Ad	bronchial
6	chr11:101342200-101357200	Weak transcription	NHLF	lung
7	chr11:101342800-101349200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:101343800-101344800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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