Variant report

Variant	rs6040575
Chromosome Location	chr20:11338113-11338114
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs11697845	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11698552	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12625544	0.81[ASN][1000 genomes]
rs12625567	0.81[ASN][1000 genomes]
rs1883968	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1883970	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1997878	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2103762	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2143872	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2143874	0.81[ASN][1000 genomes]
rs2207129	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2223861	0.81[ASN][1000 genomes]
rs2327379	0.81[ASN][1000 genomes]
rs2327403	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2327404	0.88[ASN][1000 genomes]
rs28374547	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4347904	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4359714	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4449203	0.81[ASN][1000 genomes]
rs4473452	0.81[ASN][1000 genomes]
rs4473453	0.81[ASN][1000 genomes]
rs4491786	0.81[ASN][1000 genomes]
rs4528833	0.81[ASN][1000 genomes]
rs4538269	0.81[ASN][1000 genomes]
rs4564855	0.81[ASN][1000 genomes]
rs4813054	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813055	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813056	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813985	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4813986	0.80[ASN][1000 genomes]
rs4813988	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813989	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813990	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4813991	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59242255	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6033110	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6033112	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6033119	0.81[ASN][1000 genomes]
rs6033120	0.81[ASN][1000 genomes]
rs6033121	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6040541	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6040563	0.81[ASN][1000 genomes]
rs6040568	0.81[ASN][1000 genomes]
rs6040569	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6040571	0.81[ASN][1000 genomes]
rs6040572	0.81[ASN][1000 genomes]
rs6040576	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040577	0.81[ASN][1000 genomes]
rs6040578	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6040582	0.81[ASN][1000 genomes]
rs6040583	0.81[ASN][1000 genomes]
rs6040591	0.81[ASN][1000 genomes]
rs6040592	0.81[ASN][1000 genomes]
rs6078138	0.92[YRI][hapmap]
rs6104739	0.81[AFR][1000 genomes]
rs6104740	0.81[ASN][1000 genomes]
rs6108922	0.81[ASN][1000 genomes]
rs6108923	0.81[ASN][1000 genomes]
rs6108927	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6108929	0.81[ASN][1000 genomes]
rs6131193	0.81[ASN][1000 genomes]
rs6131194	0.81[ASN][1000 genomes]
rs6131195	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131196	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131197	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131199	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131200	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6134204	0.81[ASN][1000 genomes]
rs6134205	0.87[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs6134212	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134215	0.81[ASN][1000 genomes]
rs6134216	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134217	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134219	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134220	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6134221	0.81[ASN][1000 genomes]
rs62193969	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs68130714	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs714655	0.83[CHB][hapmap];0.81[JPT][hapmap];0.90[MEX][hapmap]
rs715370	0.81[ASN][1000 genomes]
rs715371	0.81[ASN][1000 genomes]
rs715372	0.81[ASN][1000 genomes]
rs8119263	0.81[ASN][1000 genomes]
rs8119401	0.81[ASN][1000 genomes]
rs932460	0.81[ASN][1000 genomes]
rs987743	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11331000-11338400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr20:11335000-11355400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr20:11335400-11338200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr20:11338000-11338200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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