Variant report

Variant	rs11994917
Chromosome Location	chr8:102689988-102689989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10093614	0.87[EUR][1000 genomes]
rs11782150	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11787378	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs12549642	1.00[ASN][1000 genomes]
rs12681368	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs13271310	0.90[EUR][1000 genomes]
rs13272106	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs13272868	0.90[EUR][1000 genomes]
rs16868198	0.86[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs2096551	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2186390	0.91[EUR][1000 genomes]
rs2211914	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2387621	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2387622	0.94[ASN][1000 genomes]
rs3735713	0.84[ASW][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap];0.83[MEX][hapmap]
rs3735714	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3735715	1.00[CEU][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3735717	0.96[CEU][hapmap];0.89[GIH][hapmap];0.87[MEX][hapmap];0.91[TSI][hapmap];0.93[EUR][1000 genomes]
rs4734038	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4734572	1.00[ASN][1000 genomes]
rs4734573	1.00[ASN][1000 genomes]
rs56306107	0.83[EUR][1000 genomes]
rs62517426	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6468791	0.92[CEU][hapmap]
rs7821380	0.82[JPT][hapmap]
rs7828300	0.96[CEU][hapmap]
rs7844230	0.80[ASN][1000 genomes]
rs9297308	0.80[CEU][hapmap]
rs9987401	0.80[CEU][hapmap]

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	esv3401576	chr8:102640273-102724495	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
2	nsv981888	chr8:102683092-102690020	Weak transcription ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs11994917	ALPK2	trans	cerebellum	SCAN
rs11994917	RIMS2	cis	parietal	SCAN
rs11994917	ODF1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102670800-102699000	Weak transcription	Right Ventricle	heart
2	chr8:102680000-102698000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:102683200-102702000	Weak transcription	Fetal Lung	lung
4	chr8:102685600-102698000	Weak transcription	Aorta	Aorta
5	chr8:102688600-102697800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:102689200-102690200	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr8:102689400-102690200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:102689800-102690200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast

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