Variant report

Variant	rs17333350
Chromosome Location	chr5:101814609-101814610
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10434748	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10434749	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10463981	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10515326	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs12658397	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap]
rs1376905	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs1376907	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1982418	1.00[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap]
rs2123136	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2548724	0.84[JPT][hapmap]
rs2600825	0.84[JPT][hapmap]
rs2657433	0.85[CHB][hapmap]
rs3114659	1.00[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap]
rs4386713	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6596486	0.95[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap]
rs6881112	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6884141	0.80[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs709370	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7710414	0.84[JPT][hapmap]
rs7728630	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7733501	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs7734060	0.95[CHB][hapmap]
rs841922	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs841934	0.84[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817537	chr5:101489151-101992104	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1016176	chr5:101534391-102333606	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv537831	chr5:101534391-102333606	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1029894	chr5:101620079-102516827	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv830427	chr5:101651510-101849723	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv882511	chr5:101669015-101819981	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv882515	chr5:101672238-101816104	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv882516	chr5:101672238-101819981	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1030022	chr5:101764756-101852804	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv534123	chr5:101794089-101834242	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv830428	chr5:101797242-101958791	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17333350	PAM	cis	multi-tissue	Pritchard
rs17333350	PAM	cis	cerebellum	SCAN

Chromatin state (count:0 , 50 per page) page:

No data

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dbSNP/dbVar ID: rs12345 /nsv7879
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