Variant report

Variant	rs1816366
Chromosome Location	chr9:103989475-103989476
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:103982888..103984667-chr9:103986650..103989820,3	K562	blood:
2	chr9:103988903..103989790-chr9:104073704..104074549,2	K562	blood:
3	chr9:103989448..103990972-chr9:103996592..103998132,2	K562	blood:
4	chr9:103982888..103986050-chr9:103986650..103989507,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10116447	0.83[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[TSI][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10116810	0.83[ASW][hapmap];0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10124241	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10819912	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10819913	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10989450	0.82[ASN][1000 genomes]
rs10989456	0.80[TSI][hapmap]
rs12005858	0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1329071	0.87[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1329073	0.80[TSI][hapmap]
rs1329074	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1329075	0.83[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13295287	0.80[EUR][1000 genomes]
rs1360065	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1367755	0.80[EUR][1000 genomes]
rs1367756	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1475499	0.83[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16920100	0.80[TSI][hapmap]
rs1819372	0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1935238	0.83[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.83[TSI][hapmap]
rs1988735	0.84[ASN][1000 genomes]
rs35968620	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4743454	0.80[TSI][hapmap]
rs7044697	0.81[EUR][1000 genomes]
rs7853007	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[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	nsv831671	chr9:103858107-104020816	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1816366	ALG2	cis	cerebellum	SCAN
rs1816366	SEC61B	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103981800-103992000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:103986400-103992400	Enhancers	Brain Hippocampus Middle	brain
3	chr9:103986800-103990000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr9:103987400-103995200	Weak transcription	Fetal Brain Female	brain
5	chr9:103988800-103989600	Enhancers	Brain Angular Gyrus	brain
6	chr9:103989000-103989600	Enhancers	HepG2	liver
7	chr9:103989200-103989600	Enhancers	Brain Substantia Nigra	brain
8	chr9:103989400-103991400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr9:103989400-103992000	Weak transcription	Brain Anterior Caudate	brain

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