Variant report

Variant	rs2139048
Chromosome Location	chr6:118157522-118157523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10457323	0.82[AMR][1000 genomes]
rs10457324	0.82[AMR][1000 genomes]
rs10499084	0.88[CEU][hapmap];1.00[GIH][hapmap];0.81[TSI][hapmap];0.82[AMR][1000 genomes]
rs1160428	0.85[AMR][1000 genomes]
rs12192458	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12203409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12206792	0.82[CEU][hapmap];0.91[MEX][hapmap]
rs1323101	0.84[AMR][1000 genomes]
rs1338974	0.84[CHB][hapmap]
rs1361288	0.89[JPT][hapmap];0.81[TSI][hapmap]
rs1416416	0.94[CEU][hapmap];0.83[CHB][hapmap]
rs1416419	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs1416420	0.94[CEU][hapmap]
rs1416421	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs1416422	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap];0.90[AMR][1000 genomes]
rs1538455	0.89[JPT][hapmap]
rs1570447	0.94[CEU][hapmap]
rs1980748	0.85[AMR][1000 genomes]
rs1998458	0.94[CEU][hapmap];0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs2211098	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs2355792	0.80[AMR][1000 genomes]
rs2760240	1.00[CEU][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes]
rs2789010	0.94[CEU][hapmap];0.85[CHB][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.92[TSI][hapmap]
rs2789013	0.94[CEU][hapmap];0.88[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes]
rs4946304	0.87[AMR][1000 genomes]
rs6568991	0.94[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes]
rs6903073	0.94[CEU][hapmap];0.83[CHB][hapmap];0.84[AMR][1000 genomes]
rs6937496	0.80[AMR][1000 genomes]
rs7775647	0.94[CEU][hapmap];0.84[CHB][hapmap]
rs912088	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs9320623	0.85[GIH][hapmap]
rs9320624	0.87[AMR][1000 genomes]
rs9372488	0.88[CEU][hapmap];0.82[AMR][1000 genomes]
rs9374683	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9374685	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9374691	0.94[CEU][hapmap];0.84[CHB][hapmap];0.87[AMR][1000 genomes]
rs9385024	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9385027	0.82[CEU][hapmap]
rs9387517	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9387518	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9387531	0.82[AMR][1000 genomes]
rs9387535	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs9398464	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9398465	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9398468	0.82[AMR][1000 genomes]
rs9401031	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9401040	0.86[CEU][hapmap]
rs9401044	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs9489295	0.82[CEU][hapmap];0.82[MEX][hapmap]
rs982647	0.89[JPT][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv830786	chr6:118026955-118201660	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv530526	chr6:118027339-118718476	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118157200-118158000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:118157400-118158800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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