Variant report

Variant	rs10819795
Chromosome Location	chr9:103368363-103368364
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103364821..103366561-chr9:103368020..103370868,2	K562	blood:
2	chr9:103361504..103363020-chr9:103366654..103368893,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10465118	1.00[CEU][hapmap]
rs10512270	1.00[CEU][hapmap]
rs10512271	1.00[CEU][hapmap]
rs10989085	1.00[CEU][hapmap]
rs10989103	1.00[CEU][hapmap]
rs10989107	1.00[CEU][hapmap]
rs10989111	1.00[CEU][hapmap]
rs10989113	1.00[CEU][hapmap]
rs10989114	1.00[CEU][hapmap]
rs10989115	1.00[CEU][hapmap]
rs10989131	1.00[CEU][hapmap]
rs10989144	1.00[CEU][hapmap]
rs10989145	1.00[CEU][hapmap]
rs10989147	1.00[CEU][hapmap]
rs10989150	1.00[CEU][hapmap]
rs10989152	0.84[JPT][hapmap]
rs10989153	0.83[JPT][hapmap]
rs10989154	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs10989156	0.85[JPT][hapmap]
rs10989161	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989162	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989163	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989164	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989165	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.88[ASN][1000 genomes]
rs10989167	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10989169	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10989170	0.88[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs10989173	0.93[ASN][1000 genomes]
rs10989174	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12056981	1.00[CEU][hapmap]
rs12235981	0.84[JPT][hapmap]
rs12236071	1.00[CEU][hapmap]
rs12236970	0.83[JPT][hapmap]
rs12237481	1.00[CEU][hapmap]
rs12238560	1.00[CEU][hapmap]
rs12683122	1.00[CEU][hapmap]
rs12683548	1.00[CEU][hapmap]
rs12683889	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs12685564	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16919174	1.00[CEU][hapmap]
rs16919204	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs16919211	1.00[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs1931140	0.85[JPT][hapmap]
rs2274881	1.00[CEU][hapmap]
rs28623148	0.88[ASN][1000 genomes]
rs4454331	0.93[ASN][1000 genomes]
rs55757829	0.86[ASN][1000 genomes]
rs56290508	0.86[ASN][1000 genomes]
rs56354846	0.86[ASN][1000 genomes]
rs7021028	0.83[JPT][hapmap]
rs72735197	0.97[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	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv893624	chr9:103351931-103416553	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Plasma amyloid beta peptide concentrations (ABx-42)	24535457	GWAS catalog

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103361200-103372800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr9:103365400-103382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:103367400-103368400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:103367800-103368400	Enhancers	Fetal Brain Male	brain

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