Variant report

Variant	rs2277765
Chromosome Location	chr20:23425163-23425164
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs1076776	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625160	0.82[ASN][1000 genomes]
rs12625164	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12625999	0.82[ASN][1000 genomes]
rs12626013	0.82[ASN][1000 genomes]
rs17757228	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17757442	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17830281	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17830565	0.82[ASN][1000 genomes]
rs1936011	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2207988	0.82[ASN][1000 genomes]
rs2207989	0.82[ASN][1000 genomes]
rs2281428	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2281434	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2295238	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34449811	0.81[ASN][1000 genomes]
rs34648279	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736755	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3746733	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3746737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3761274	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3761275	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3827085	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3827086	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55851398	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56094936	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56334525	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6036411	0.82[ASN][1000 genomes]
rs6048803	0.81[ASN][1000 genomes]
rs6048809	0.81[ASN][1000 genomes]
rs6048810	0.82[ASN][1000 genomes]
rs6048811	0.82[ASN][1000 genomes]
rs6048813	0.82[ASN][1000 genomes]
rs6048820	0.82[ASN][1000 genomes]
rs6106656	0.82[ASN][1000 genomes]
rs6114094	0.81[ASN][1000 genomes]
rs6114098	0.82[ASN][1000 genomes]
rs6114100	0.82[ASN][1000 genomes]
rs6114101	0.82[ASN][1000 genomes]
rs6132599	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6132600	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6132605	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6132606	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6132609	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6132610	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6132617	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6132620	0.81[ASN][1000 genomes]
rs6132621	0.82[ASN][1000 genomes]
rs6132622	0.82[ASN][1000 genomes]
rs6132623	0.82[ASN][1000 genomes]
rs6132628	0.82[ASN][1000 genomes]
rs6137901	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6137907	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137910	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137913	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137914	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137915	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137917	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6137919	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137920	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6137927	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137929	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137930	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137931	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6137936	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137937	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137938	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137939	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6137941	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6137945	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6137947	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6137948	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6137950	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6137951	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6137957	0.81[ASN][1000 genomes]
rs6137959	0.82[ASN][1000 genomes]
rs6137960	0.82[ASN][1000 genomes]
rs6137961	0.82[ASN][1000 genomes]
rs6137962	0.82[ASN][1000 genomes]
rs6137963	0.82[ASN][1000 genomes]
rs6137964	0.82[ASN][1000 genomes]
rs6137967	0.82[ASN][1000 genomes]
rs761722	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8183135	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23421200-23427200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr20:23422400-23426400	Enhancers	Fetal Thymus	thymus
5	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr20:23423200-23426000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr20:23423400-23426000	Weak transcription	NHDF-Ad	bronchial
8	chr20:23423600-23426400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr20:23423800-23426800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr20:23425000-23426200	Enhancers	HSMMtube	muscle

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