Variant report

Variant	rs1123671
Chromosome Location	chr20:24116554-24116555
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1005527	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1012783	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11696686	0.81[EUR][1000 genomes]
rs11697353	0.87[ASN][1000 genomes]
rs11699743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12480224	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17249809	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1884519	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2103922	0.87[EUR][1000 genomes]
rs35663453	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55921601	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6132695	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6132696	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6138201	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6138207	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6138210	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6138214	0.83[EUR][1000 genomes]
rs61657263	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7270353	0.81[CHB][hapmap];0.87[JPT][hapmap]

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	nsv9793	chr20:23939613-24734850	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3328348	chr20:24095746-24285830	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2755330	chr20:24114903-24130700	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24111000-24117200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr20:24111400-24117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24111400-24120400	Enhancers	Placenta	Placenta
4	chr20:24111600-24119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr20:24113000-24117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:24114800-24119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr20:24115600-24116800	Weak transcription	Esophagus	oesophagus
8	chr20:24115600-24117400	Weak transcription	HMEC	breast
9	chr20:24115600-24119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr20:24115800-24119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr20:24115800-24121200	Weak transcription	Pancreas	Pancrea
12	chr20:24116000-24117800	Enhancers	Primary T cells fromperipheralblood	blood
13	chr20:24116400-24116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr20:24116400-24116800	Enhancers	Dnd41	blood
15	chr20:24116400-24117800	Enhancers	NHEK	skin

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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