Variant report

Variant	rs60393902
Chromosome Location	chr21:29020170-29020171
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10482987	1.00[EUR][1000 genomes]
rs10482988	1.00[EUR][1000 genomes]
rs11909823	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11911239	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12482414	1.00[EUR][1000 genomes]
rs1431361	1.00[EUR][1000 genomes]
rs1431363	1.00[EUR][1000 genomes]
rs1431365	1.00[EUR][1000 genomes]
rs1431367	1.00[EUR][1000 genomes]
rs16981091	1.00[EUR][1000 genomes]
rs16981099	1.00[EUR][1000 genomes]
rs2831069	1.00[EUR][1000 genomes]
rs2831104	1.00[EUR][1000 genomes]
rs2831110	1.00[EUR][1000 genomes]
rs2831112	1.00[EUR][1000 genomes]
rs2831113	1.00[EUR][1000 genomes]
rs2831120	1.00[EUR][1000 genomes]
rs2831121	1.00[EUR][1000 genomes]
rs2831136	1.00[EUR][1000 genomes]
rs28371131	1.00[EUR][1000 genomes]
rs28447510	1.00[EUR][1000 genomes]
rs28464665	1.00[EUR][1000 genomes]
rs28672074	1.00[EUR][1000 genomes]
rs28709935	1.00[EUR][1000 genomes]
rs28796720	1.00[EUR][1000 genomes]
rs5002119	1.00[EUR][1000 genomes]
rs56233812	0.91[AFR][1000 genomes]
rs56774116	1.00[EUR][1000 genomes]
rs57274057	1.00[EUR][1000 genomes]
rs57431839	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57645042	1.00[EUR][1000 genomes]
rs59123522	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59438303	1.00[EUR][1000 genomes]
rs6516773	1.00[EUR][1000 genomes]
rs6516778	1.00[EUR][1000 genomes]
rs6516779	1.00[EUR][1000 genomes]
rs6516780	1.00[EUR][1000 genomes]
rs7275530	1.00[EUR][1000 genomes]
rs7275805	1.00[EUR][1000 genomes]
rs7277044	1.00[EUR][1000 genomes]
rs7277941	1.00[EUR][1000 genomes]
rs7278044	1.00[EUR][1000 genomes]
rs7279786	1.00[EUR][1000 genomes]
rs7279812	1.00[EUR][1000 genomes]
rs7279944	1.00[EUR][1000 genomes]
rs7280183	1.00[EUR][1000 genomes]
rs7282084	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7282926	1.00[EUR][1000 genomes]
rs73388102	1.00[EUR][1000 genomes]
rs73901891	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73901894	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8128349	1.00[EUR][1000 genomes]
rs8133210	1.00[EUR][1000 genomes]
rs8134876	1.00[EUR][1000 genomes]
rs9305332	1.00[EUR][1000 genomes]
rs9974260	1.00[EUR][1000 genomes]
rs9976745	1.00[EUR][1000 genomes]
rs9977384	1.00[EUR][1000 genomes]
rs9978827	1.00[EUR][1000 genomes]
rs9981617	1.00[EUR][1000 genomes]
rs9982568	1.00[EUR][1000 genomes]
rs9982894	1.00[EUR][1000 genomes]
rs9982905	1.00[EUR][1000 genomes]
rs9983028	1.00[EUR][1000 genomes]
rs9983150	1.00[EUR][1000 genomes]
rs9983153	1.00[EUR][1000 genomes]
rs9983357	1.00[EUR][1000 genomes]
rs9983945	1.00[EUR][1000 genomes]
rs9984742	1.00[EUR][1000 genomes]
rs9984856	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1059423	chr21:28957144-29306656	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:29017400-29021200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr21:29017600-29021200	Enhancers	Muscle Satellite Cultured Cells	--
3	chr21:29017600-29022400	Enhancers	NHDF-Ad	bronchial
4	chr21:29017600-29022400	Enhancers	NHEK	skin
5	chr21:29017800-29020200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr21:29017800-29021800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr21:29017800-29022400	Enhancers	HMEC	breast
8	chr21:29018000-29020800	Weak transcription	NH-A	brain
9	chr21:29018000-29021200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr21:29018200-29021000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr21:29019000-29021400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr21:29019000-29022200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr21:29019000-29022400	Enhancers	HUVEC	blood vessel
14	chr21:29019400-29020400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr21:29019400-29022200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr21:29019400-29022400	Enhancers	Osteobl	bone
17	chr21:29019800-29020200	Enhancers	NHLF	lung
18	chr21:29019800-29022200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:29019800-29022400	Enhancers	HSMM	muscle
20	chr21:29020000-29021000	Weak transcription	HSMMtube	muscle

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