Variant report

Variant	rs11218148
Chromosome Location	chr11:120992119-120992120
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 70 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10892676	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11218158	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11218160	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11826847	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.83[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12275038	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12279811	0.92[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs12280641	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12285467	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12285468	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12288505	0.83[EUR][1000 genomes]
rs17245810	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1939934	0.85[EUR][1000 genomes]
rs1941299	1.00[CHB][hapmap]
rs1943656	0.83[EUR][1000 genomes]
rs34002948	0.93[EUR][1000 genomes]
rs34217740	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4427574	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4499012	0.88[EUR][1000 genomes]
rs4539330	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4623911	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4641485	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs489985	0.87[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4935760	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4935762	0.81[EUR][1000 genomes]
rs4936576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936578	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4936579	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4936582	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936583	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936584	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936585	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936586	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936587	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4936590	0.90[EUR][1000 genomes]
rs4936591	0.88[EUR][1000 genomes]
rs513182	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes]
rs524392	0.85[EUR][1000 genomes]
rs528958	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs541623	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs580683	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs581786	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs606674	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs607014	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs607999	0.93[EUR][1000 genomes]
rs615697	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs616184	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs620164	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs620778	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs624428	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs665743	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[MEX][hapmap];0.86[TSI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs667125	1.00[YRI][hapmap]
rs688106	0.93[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7105356	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7108587	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7108594	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7108741	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7108971	1.00[CHB][hapmap]
rs7110565	0.84[EUR][1000 genomes]
rs7114879	0.90[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7114915	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7120647	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7122110	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7125224	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7128792	0.91[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7130952	0.93[CEU][hapmap];1.00[CHB][hapmap];0.92[MEX][hapmap];0.86[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs877538	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9651697	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9736671	0.90[EUR][1000 genomes]
rs9943635	0.84[EUR][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11218148	HINFP	cis	cerebellum	SCAN
rs11218148	TAGLN	cis	cerebellum	SCAN
rs11218148	VPS11	cis	cerebellum	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120975800-121005600	Weak transcription	Right Ventricle	heart
2	chr11:120976600-120992200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:120976600-120998400	Weak transcription	Brain Anterior Caudate	brain
4	chr11:120980600-120998400	Weak transcription	Fetal Brain Female	brain
5	chr11:120981400-120992400	Weak transcription	Brain Germinal Matrix	brain
6	chr11:120983400-120993400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:120983800-120992800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:120983800-120993200	Weak transcription	Fetal Brain Male	brain
9	chr11:120984400-120993800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:120991800-120998600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr11:120992000-120992200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:120992000-120992600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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