Variant report

Variant	rs1283694
Chromosome Location	chr8:108411942-108411943
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1283663	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];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283675	0.86[ASW][hapmap];0.85[CEU][hapmap];0.84[GIH][hapmap];0.82[EUR][1000 genomes]
rs1283676	0.83[EUR][1000 genomes]
rs1283677	0.81[EUR][1000 genomes]
rs1283678	0.92[CEU][hapmap];0.92[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1283679	0.93[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.82[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1283680	0.84[EUR][1000 genomes]
rs1283685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283697	0.85[CEU][hapmap]
rs1283699	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs1283702	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1283703	0.91[CHD][hapmap];0.93[GIH][hapmap];0.88[JPT][hapmap]
rs1298936	0.92[CEU][hapmap];0.90[GIH][hapmap];0.84[TSI][hapmap];0.84[EUR][1000 genomes]
rs1433182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1654729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1654750	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs1654751	0.84[EUR][1000 genomes]
rs1672165	0.81[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs1672166	0.93[ASW][hapmap];0.92[CEU][hapmap];0.92[GIH][hapmap];0.83[MKK][hapmap];0.84[TSI][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2514866	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2916083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764100	chr8:108220671-108469233	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1030831	chr8:108224295-108466437	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv539714	chr8:108224295-108466437	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv465760	chr8:108224687-108485912	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv611851	chr8:108224687-108485912	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1283694	PKHD1L1	cis	parietal	SCAN
rs1283694	ZMYND19	trans	brain	seeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:108396200-108414000	Weak transcription	Osteobl	bone
2	chr8:108399800-108421000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:108409200-108412000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr8:108409600-108412400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:108410400-108419000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links