Variant report

Variant	rs11805124
Chromosome Location	chr1:186565198-186565199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:91)

rs_ID	r²[population]
rs10798047	0.81[AFR][1000 genomes]
rs10798048	0.81[AFR][1000 genomes]
rs10798049	0.81[AFR][1000 genomes]
rs10798051	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10911877	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10911878	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10911880	0.87[AFR][1000 genomes]
rs10911882	0.81[AFR][1000 genomes]
rs10911885	0.81[AFR][1000 genomes]
rs10911886	0.81[AFR][1000 genomes]
rs10911887	0.81[AFR][1000 genomes]
rs10911888	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10911890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10911892	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10911895	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10911898	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11580808	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11582183	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11800288	0.81[ASN][1000 genomes]
rs11800338	0.81[ASN][1000 genomes]
rs11804785	0.81[ASN][1000 genomes]
rs11806663	0.81[ASN][1000 genomes]
rs11807927	0.81[ASN][1000 genomes]
rs11808165	0.81[ASN][1000 genomes]
rs11809088	0.81[ASN][1000 genomes]
rs11811259	0.80[ASN][1000 genomes]
rs11811260	0.80[ASN][1000 genomes]
rs11811335	0.81[ASN][1000 genomes]
rs12076100	0.81[AFR][1000 genomes]
rs12081060	0.87[AFR][1000 genomes]
rs12085848	0.81[AFR][1000 genomes]
rs12087470	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12089127	0.81[AFR][1000 genomes]
rs12093901	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12096518	0.87[AFR][1000 genomes]
rs12402521	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12408222	0.81[AFR][1000 genomes]
rs12723621	0.81[ASN][1000 genomes]
rs12728706	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12739006	0.81[ASN][1000 genomes]
rs12750371	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12751255	0.80[ASN][1000 genomes]
rs16825675	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1799957	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1929092	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2024761	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2180167	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2206974	0.81[ASN][1000 genomes]
rs2207727	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2223783	0.81[ASN][1000 genomes]
rs2223784	0.81[ASN][1000 genomes]
rs2383508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2383509	0.81[ASN][1000 genomes]
rs34310508	0.81[ASN][1000 genomes]
rs34396375	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34778311	0.81[ASN][1000 genomes]
rs35636342	0.81[ASN][1000 genomes]
rs35643079	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36105782	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3844242	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3901950	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4140433	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4567244	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59547074	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6425032	0.81[AFR][1000 genomes]
rs6425033	0.81[AFR][1000 genomes]
rs6425035	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6659683	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6666413	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6666813	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6672836	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6675505	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6677346	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6678198	0.81[ASN][1000 genomes]
rs6680055	0.81[ASN][1000 genomes]
rs6680252	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6689065	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6689727	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6690318	0.81[AFR][1000 genomes]
rs6694957	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67203540	0.81[AFR][1000 genomes]
rs71634175	0.81[ASN][1000 genomes]
rs71634176	0.81[ASN][1000 genomes]
rs7518525	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7536199	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7538407	0.81[AFR][1000 genomes]
rs7539054	0.80[EUR][1000 genomes]
rs7550585	0.81[AFR][1000 genomes]
rs7550953	0.81[AFR][1000 genomes]
rs7556360	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs765799	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1012164	chr1:186323867-186565995	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	esv2762201	chr1:186323879-186566007	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 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	chr1:186561800-186565400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:186564800-186565600	Enhancers	GM12878-XiMat	blood
3	chr1:186565000-186565600	Enhancers	Primary T helper cells fromperipheralblood	blood

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