Variant report

Variant	rs3000133
Chromosome Location	chr1:79844480-79844481
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs11162695	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11162696	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11162697	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12724768	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12726250	0.83[AMR][1000 genomes]
rs12732505	0.89[AMR][1000 genomes]
rs12734357	0.84[AMR][1000 genomes]
rs12749113	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12749224	0.88[AMR][1000 genomes]
rs1353290	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1389944	0.81[EUR][1000 genomes]
rs1389946	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1494857	0.80[EUR][1000 genomes]
rs17451181	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1994938	0.81[EUR][1000 genomes]
rs2029788	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2101800	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2132057	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2860503	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2934868	0.84[EUR][1000 genomes]
rs2934873	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2934878	0.90[EUR][1000 genomes]
rs2989850	0.89[ASN][1000 genomes]
rs3000098	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3000110	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3000155	0.87[EUR][1000 genomes]
rs3000174	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3000175	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3000176	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3000177	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3000178	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3000179	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3015006	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3015008	0.90[EUR][1000 genomes]
rs3015013	0.85[EUR][1000 genomes]
rs3015025	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3015098	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3015107	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3015108	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3015120	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs33944981	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34146004	0.86[AMR][1000 genomes]
rs34510598	0.83[AMR][1000 genomes]
rs35352017	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35676104	0.86[AMR][1000 genomes]
rs35706038	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35733452	0.84[AMR][1000 genomes]
rs35963120	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4414002	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4630085	0.89[AMR][1000 genomes]
rs6661645	0.86[AMR][1000 genomes]
rs6692670	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6699018	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7516261	0.85[EUR][1000 genomes]
rs7555044	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491784	chr1:79146141-79853482	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv870657	chr1:79701220-79890774	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv830337	chr1:79791879-79913241	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv546633	chr1:79794719-79877035	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv871649	chr1:79807447-79924175	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1004014	chr1:79811049-80042309	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv462150	chr1:79835066-79873161	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv546634	chr1:79835066-79873161	Weak transcription Enhancers	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv462161	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv462173	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv470721	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv546635	chr1:79835066-79877035	Enhancers Weak transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:79844200-79844600	Enhancers	GM12878-XiMat	blood
2	chr1:79844200-79844800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:79844400-79844600	Enhancers	Osteobl	bone

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