Variant report

Variant	rs6132630
Chromosome Location	chr20:23452144-23452145
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs12625160	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12625999	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12626013	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17830565	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2207988	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2207989	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2236021	0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28407103	0.86[EUR][1000 genomes]
rs34449811	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34740966	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35810824	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57021299	0.89[EUR][1000 genomes]
rs6036411	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048803	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048809	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6048810	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048811	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048813	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6048814	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6048820	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6106655	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6106656	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6106667	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6114094	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6114098	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114100	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114101	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6114126	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6132620	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6132621	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132622	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132623	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6132626	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6132628	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137957	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6137959	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137960	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137961	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137962	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137963	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137964	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137967	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6137971	0.88[EUR][1000 genomes]
rs6137976	0.86[EUR][1000 genomes]
rs6137977	0.86[EUR][1000 genomes]
rs6137980	0.83[EUR][1000 genomes]
rs6137982	0.83[EUR][1000 genomes]
rs6137983	0.83[EUR][1000 genomes]
rs6137984	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 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
10	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv979404	chr20:23429655-23455778	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1057992	chr20:23430887-23565333	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv544215	chr20:23430887-23565333	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv491876	chr20:23436633-24031374	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr20:23441000-23454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:23446600-23465600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr20:23451000-23455200	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr20:23451400-23452400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr20:23451400-23452400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr20:23451400-23456200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr20:23451600-23452600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr20:23451600-23452600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr20:23451600-23452600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr20:23451800-23452200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr20:23451800-23453600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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