Variant report

Variant	rs12362157
Chromosome Location	chr11:101350176-101350177
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10501981	0.83[YRI][hapmap]
rs10501986	0.83[YRI][hapmap]
rs10791490	0.83[YRI][hapmap]
rs11224779	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11224780	0.93[GIH][hapmap];1.00[JPT][hapmap];0.86[MKK][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11224781	0.93[GIH][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap]
rs11224782	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224783	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224790	0.82[YRI][hapmap]
rs11822192	0.83[ASW][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.82[LWK][hapmap];0.83[TSI][hapmap];0.81[YRI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12362848	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	0.83[ASW][hapmap];0.90[GIH][hapmap];0.88[JPT][hapmap];0.83[LWK][hapmap];0.89[MKK][hapmap];0.94[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12786558	0.86[JPT][hapmap]
rs12791865	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4262694	0.83[YRI][hapmap]
rs4477408	0.80[YRI][hapmap]
rs4542378	0.85[YRI][hapmap]
rs6590864	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7117447	1.00[JPT][hapmap]
rs7118253	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7932871	0.83[YRI][hapmap]
rs7935702	0.83[YRI][hapmap]
rs7948300	0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7948687	0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.83[EUR][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
rs12362157	DYNC2H1	cis	cerebellum	SCAN

Chromatin state (count:25 , 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	chr11:101342200-101357200	Weak transcription	NHLF	lung
5	chr11:101346400-101352200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:101348800-101350200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:101348800-101350400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:101349000-101350200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:101349000-101350200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:101349000-101350200	Enhancers	Placenta	Placenta
11	chr11:101349200-101350200	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr11:101349200-101350200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:101349200-101350200	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr11:101349200-101350200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr11:101349200-101350200	Enhancers	HMEC	breast
16	chr11:101349400-101350200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr11:101349600-101357800	Weak transcription	Fetal Brain Male	brain
18	chr11:101349800-101350200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:101349800-101350200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:101349800-101350200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:101349800-101350200	Enhancers	Fetal Thymus	thymus
22	chr11:101350000-101350200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr11:101350000-101350200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:101350000-101350400	Enhancers	NHEK	skin
25	chr11:101350000-101384800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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