Variant report

Variant	rs17779791
Chromosome Location	chr8:10940241-10940242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10087767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap]
rs10088853	1.00[CHB][hapmap]
rs10089518	1.00[CHB][hapmap]
rs10100660	1.00[CHB][hapmap]
rs10101329	1.00[CHB][hapmap]
rs10110684	1.00[CHB][hapmap]
rs10503417	1.00[CHB][hapmap]
rs10903337	1.00[CHB][hapmap]
rs11250092	1.00[CHB][hapmap]
rs11776603	1.00[CHB][hapmap]
rs11777887	1.00[CHB][hapmap]
rs11777918	1.00[CHB][hapmap]
rs11778121	1.00[CHB][hapmap]
rs11780798	0.85[CEU][hapmap]
rs11783045	1.00[CHB][hapmap]
rs11785392	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11989369	1.00[CHB][hapmap]
rs12156117	0.83[EUR][1000 genomes]
rs13248014	1.00[CHB][hapmap]
rs13248264	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs13248300	0.82[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.85[TSI][hapmap]
rs13249916	1.00[CHB][hapmap]
rs13251528	1.00[CHB][hapmap]
rs13256743	1.00[CHB][hapmap]
rs13265553	1.00[CHB][hapmap]
rs13273857	1.00[CHB][hapmap]
rs13275102	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13276708	1.00[CHB][hapmap]
rs13276836	1.00[CHB][hapmap]
rs17152841	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[ASN][1000 genomes]
rs17725480	1.00[CHB][hapmap]
rs17725534	1.00[CHB][hapmap]
rs17726209	1.00[CHB][hapmap]
rs17782536	1.00[CHB][hapmap]
rs17782554	1.00[CHB][hapmap]
rs1987190	1.00[CHB][hapmap]
rs2409691	1.00[CHB][hapmap]
rs2409692	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409693	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2409695	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2409719	1.00[CHB][hapmap]
rs2409720	1.00[CHB][hapmap]
rs2409729	1.00[CHB][hapmap]
rs3021495	1.00[CHB][hapmap]
rs3021497	1.00[CHB][hapmap]
rs4240671	1.00[CHB][hapmap]
rs4240672	1.00[CHB][hapmap]
rs4291231	1.00[CHB][hapmap]
rs4326350	1.00[CHB][hapmap]
rs4451268	1.00[CHB][hapmap]
rs4618656	1.00[CHB][hapmap]
rs4642600	1.00[CHB][hapmap]
rs4840536	0.84[EUR][1000 genomes]
rs4840541	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4840548	1.00[CHB][hapmap]
rs4841460	1.00[CHB][hapmap]
rs4841486	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs4841491	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4841497	1.00[CHB][hapmap]
rs6601561	1.00[CHB][hapmap]
rs6601563	1.00[CHB][hapmap]
rs67841554	0.89[EUR][1000 genomes]
rs6985109	1.00[CHB][hapmap]
rs7821826	1.00[CHB][hapmap]
rs7823610	0.86[CEU][hapmap];0.82[EUR][1000 genomes]
rs7832722	1.00[CHB][hapmap]
rs9329238	1.00[CHB][hapmap]
rs9657544	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[GIH][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	esv1815171	chr8:10940039-11128712	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17779791	CTSB	cis	cerebellum	SCAN
rs17779791	MFHAS1	cis	cerebellum	SCAN
rs17779791	TDH	cis	cerebellum	SCAN
rs17779791	C8orf5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10925000-10941800	Weak transcription	Right Atrium	heart
2	chr8:10925600-10944400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr8:10935200-10943800	Weak transcription	Brain Anterior Caudate	brain
4	chr8:10936600-10940600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:10937800-10941000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr8:10939600-10940400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:10939600-10942400	Weak transcription	Pancreas	Pancrea
8	chr8:10940200-10941400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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