Variant report

Variant	rs12274094
Chromosome Location	chr11:120968462-120968463
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10502245	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.95[ASN][1000 genomes]
rs10892662	0.89[ASN][1000 genomes]
rs10892663	0.81[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892664	0.89[ASN][1000 genomes]
rs10892665	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs10892666	0.97[ASN][1000 genomes]
rs10892667	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10892668	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10892669	0.97[ASN][1000 genomes]
rs10892670	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11218115	0.86[ASN][1000 genomes]
rs11218118	0.89[ASN][1000 genomes]
rs11218120	0.89[ASN][1000 genomes]
rs11218121	0.89[ASN][1000 genomes]
rs11218122	0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs11218123	0.90[ASN][1000 genomes]
rs11218125	0.92[ASN][1000 genomes]
rs11218126	1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs11218127	1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs11218128	0.94[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs11218135	0.95[ASN][1000 genomes]
rs11218137	0.98[ASN][1000 genomes]
rs11218139	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11218140	0.95[ASN][1000 genomes]
rs12225989	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs12226639	0.98[ASN][1000 genomes]
rs12274032	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12283211	0.95[CHB][hapmap];0.97[CHD][hapmap];0.84[GIH][hapmap];0.89[JPT][hapmap];0.88[MEX][hapmap];0.89[ASN][1000 genomes]
rs12576572	1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[JPT][hapmap];0.91[ASN][1000 genomes]
rs12576574	0.89[ASN][1000 genomes]
rs12576758	0.89[ASN][1000 genomes]
rs12576759	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs12577611	0.89[ASN][1000 genomes]
rs17124739	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.95[ASN][1000 genomes]
rs17124764	0.98[ASN][1000 genomes]
rs1939004	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.92[ASN][1000 genomes]
rs2000525	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2000526	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2000527	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2000528	1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs2186601	0.98[ASN][1000 genomes]
rs2298491	0.95[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs34929374	0.80[ASN][1000 genomes]
rs3758891	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs3824976	0.87[ASN][1000 genomes]
rs4396299	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.97[ASN][1000 genomes]
rs4594010	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56675723	0.97[ASN][1000 genomes]
rs57401958	0.95[ASN][1000 genomes]
rs57826163	0.96[ASN][1000 genomes]
rs58204590	0.95[ASN][1000 genomes]
rs61903185	0.90[ASN][1000 genomes]
rs6589854	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6589855	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];0.88[MEX][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs6589856	0.98[ASN][1000 genomes]
rs67932968	0.96[ASN][1000 genomes]
rs68097814	0.89[ASN][1000 genomes]
rs7122879	1.00[CHB][hapmap];0.92[CHD][hapmap];0.94[JPT][hapmap];0.88[MEX][hapmap];0.90[ASN][1000 genomes]
rs7478744	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7927356	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7928550	0.85[ASN][1000 genomes]
rs7931603	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7940619	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7947565	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7952619	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv524	chr11:120963503-121008167	Weak transcription ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs12274094	CBL	cis	cerebellum	SCAN
rs12274094	MPZL2	cis	parietal	SCAN
rs12274094	TBCEL	cis	cerebellum	SCAN
rs12274094	TBCEL	cis	lymphoblastoid	seeQTL

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120942800-120972000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:120942800-120979000	Weak transcription	Aorta	Aorta
3	chr11:120946200-120970400	Weak transcription	NH-A	brain
4	chr11:120956000-120971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:120958200-120970200	Weak transcription	Ovary	ovary
6	chr11:120958200-120971200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:120958200-120975200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:120958400-120970200	Weak transcription	Fetal Brain Female	brain
9	chr11:120958600-120970200	Weak transcription	Fetal Muscle Leg	muscle
10	chr11:120958800-120970400	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:120958800-120971200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:120958800-120980600	Weak transcription	Brain Germinal Matrix	brain
13	chr11:120959000-120970400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:120959000-120970400	Weak transcription	Fetal Lung	lung
15	chr11:120959200-120970200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr11:120959200-120971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:120959200-120971400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:120959600-120975800	Weak transcription	Brain Hippocampus Middle	brain
19	chr11:120959800-120971000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr11:120959800-120971200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr11:120960600-120970400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:120962600-120971800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:120962600-120976000	Weak transcription	HSMMtube	muscle
24	chr11:120964600-120971400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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