Variant report

Variant	rs2038592
Chromosome Location	chr9:10561818-10561819
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10511549	0.81[JPT][hapmap]
rs10756060	0.85[MEX][hapmap]
rs10756061	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs10756064	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs10809118	0.81[JPT][hapmap]
rs10809119	0.81[JPT][hapmap]
rs10809121	0.91[CEU][hapmap];0.85[GIH][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap]
rs10959164	0.81[JPT][hapmap]
rs10959166	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10959170	0.90[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap]
rs10959172	0.86[CHB][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap]
rs1322310	0.95[CEU][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.85[TSI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1322311	0.95[CEU][hapmap];0.91[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap]
rs13283650	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs1923442	0.82[CHB][hapmap];0.81[JPT][hapmap]
rs2146093	0.81[JPT][hapmap]
rs7849535	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021630	chr9:10336415-10881683	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv530932	chr9:10381123-11173149	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv533845	chr9:10425554-11318889	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831507	chr9:10439463-10676779	Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1023764	chr9:10504157-10685587	Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv539997	chr9:10504157-10685587	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv34558	chr9:10512307-10581500	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
8	esv2757313	chr9:10512307-10586527	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv2759667	chr9:10512307-10586527	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer	TF binding region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv892322	chr9:10538336-10582246	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	n/a
11	nsv442134	chr9:10541175-10583273	Weak transcription Enhancers Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
12	nsv1032936	chr9:10541177-10633543	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1026647	chr9:10541916-10565964	Enhancers Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	n/a
14	nsv892323	chr9:10543899-10565574	Enhancers Active TSS Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
15	esv34992	chr9:10546257-10586527	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
16	nsv466165	chr9:10546779-10592492	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
17	nsv466166	chr9:10546779-10592492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
18	nsv613391	chr9:10546779-10592492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	inside rSNPs	n/a
19	nsv438092	chr9:10546814-10582586	Enhancers Bivalent Enhancer Weak transcription	n/a	n/a	inside rSNPs	n/a
20	nsv892324	chr9:10546814-10602787	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
21	nsv613392	chr9:10547403-10595208	Enhancers Weak transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a
22	nsv437084	chr9:10559329-10590179	Enhancers Weak transcription	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:10561400-10564200	Enhancers	NHEK	skin
2	chr9:10561600-10562200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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