Variant report

Variant	rs1446464
Chromosome Location	chr11:8486310-8486311
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 105 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10160430	0.80[CEU][hapmap];0.81[CHB][hapmap]
rs10160804	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10444244	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs10444316	0.86[CHB][hapmap]
rs10743072	0.81[ASN][1000 genomes]
rs10743076	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs10743078	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10743079	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10743080	0.86[EUR][1000 genomes]
rs10743082	1.00[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs10769908	0.81[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.82[ASN][1000 genomes]
rs10769910	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10769915	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10769916	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10769918	0.85[ASN][1000 genomes]
rs10769919	0.89[CEU][hapmap];0.84[JPT][hapmap];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10769920	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10769923	0.86[EUR][1000 genomes]
rs10840042	0.81[CEU][hapmap]
rs10840047	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs10840051	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs10840055	0.81[ASN][1000 genomes]
rs10840056	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs10840058	0.82[ASN][1000 genomes]
rs10840060	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap];0.82[ASN][1000 genomes]
rs10840062	0.84[CEU][hapmap];0.86[CHB][hapmap]
rs10840063	0.86[CHB][hapmap]
rs10840065	0.81[CEU][hapmap];0.86[CHB][hapmap];0.80[MEX][hapmap]
rs10840077	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs10840079	0.82[EUR][1000 genomes]
rs10840081	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10840083	0.85[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.85[ASN][1000 genomes]
rs10840084	0.80[CEU][hapmap]
rs10840085	0.86[ASN][1000 genomes]
rs10840089	0.86[EUR][1000 genomes]
rs11041929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11041950	0.85[CHB][hapmap]
rs11041978	0.81[CEU][hapmap];0.86[CHB][hapmap];0.83[CHD][hapmap]
rs11041982	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs11041986	0.83[EUR][1000 genomes]
rs11041990	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11041993	0.83[ASN][1000 genomes]
rs11041994	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11041995	0.84[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11041997	0.81[ASN][1000 genomes]
rs12226478	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12785939	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12805671	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12806736	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap]
rs1374262	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[MEX][hapmap]
rs1374263	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1900272	0.96[CEU][hapmap];0.86[CHB][hapmap];0.91[EUR][1000 genomes]
rs1900273	0.82[CHB][hapmap];0.82[CHD][hapmap]
rs2028881	0.87[YRI][hapmap]
rs2028882	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap]
rs2289921	0.80[CEU][hapmap];0.86[CHB][hapmap];0.81[ASN][1000 genomes]
rs2289923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2311390	0.83[YRI][hapmap]
rs2871753	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[ASN][1000 genomes]
rs4131072	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4244804	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.80[MEX][hapmap]
rs4244806	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4344491	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4405311	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4520598	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4758067	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4929929	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4929941	1.00[CEU][hapmap];0.88[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs4929942	0.81[CEU][hapmap]
rs4929943	0.85[CEU][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs4929945	0.95[JPT][hapmap]
rs4929950	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6578969	0.81[ASN][1000 genomes]
rs7101471	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[MEX][hapmap]
rs7105027	0.87[YRI][hapmap]
rs7112153	0.81[CEU][hapmap];0.86[CHB][hapmap];0.82[CHD][hapmap]
rs7119274	0.82[YRI][hapmap]
rs7120065	0.82[ASN][1000 genomes]
rs7126013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7126934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap]
rs7127684	0.81[CEU][hapmap];0.81[CHB][hapmap];0.80[MEX][hapmap]
rs7129357	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs725502	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs726007	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924753	0.82[ASN][1000 genomes]
rs7929120	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7931604	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7939731	0.81[CEU][hapmap];0.86[CHB][hapmap];0.81[CHD][hapmap]
rs7945659	0.86[CHB][hapmap]
rs7947670	0.81[CHB][hapmap]
rs9284150	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.92[YRI][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9284151	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300088	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9300089	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9300090	0.86[CHB][hapmap]
rs9300091	0.84[CEU][hapmap];0.90[CHB][hapmap]
rs9300092	0.81[CEU][hapmap];0.86[CHB][hapmap]
rs9300093	0.84[CHB][hapmap]
rs9300094	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs935370	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9705083	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9736791	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs9737312	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751035	chr11:8431654-8685451	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv32551	chr11:8457023-8534642	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs1446464	ZNF616	trans	parietal	SCAN
rs1446464	RPL27A	cis	cerebellum	SCAN
rs1446464	STK33	cis	cerebellum	SCAN
rs1446464	ST5	cis	cerebellum	SCAN
rs1446464	RPL27A	cis	parietal	SCAN
rs1446464	SNORA45	cis	parietal	SCAN
rs1446464	STK33	cis	Artery Tibial	GTEx
rs1446464	STK33	cis	parietal	SCAN
rs1446464	STK33	cis	lymphoblastoid	seeQTL

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8464400-8488200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:8464600-8488200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:8464600-8489000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr11:8464600-8495800	Weak transcription	Fetal Heart	heart
5	chr11:8474200-8491400	Weak transcription	Pancreas	Pancrea
6	chr11:8477400-8488000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:8479400-8489000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:8481800-8491000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:8482000-8488400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:8483600-8491000	Weak transcription	Gastric	stomach
11	chr11:8484400-8486400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr11:8485200-8489600	Weak transcription	Ovary	ovary
13	chr11:8485800-8488200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:8486200-8488200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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