Variant report

Variant	rs8134501
Chromosome Location	chr21:17929192-17929193
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10084567	1.00[EUR][1000 genomes]
rs10084608	1.00[EUR][1000 genomes]
rs10084612	1.00[EUR][1000 genomes]
rs12482215	1.00[EUR][1000 genomes]
rs12482914	1.00[EUR][1000 genomes]
rs12483358	1.00[EUR][1000 genomes]
rs12483622	1.00[EUR][1000 genomes]
rs2000625	1.00[ASN][1000 genomes]
rs2000627	1.00[ASN][1000 genomes]
rs2040142	1.00[EUR][1000 genomes]
rs2212562	1.00[EUR][1000 genomes]
rs2226435	1.00[EUR][1000 genomes]
rs2823821	1.00[EUR][1000 genomes]
rs2823822	1.00[EUR][1000 genomes]
rs2823825	1.00[EUR][1000 genomes]
rs2823826	1.00[EUR][1000 genomes]
rs2823827	1.00[EUR][1000 genomes]
rs2823828	1.00[EUR][1000 genomes]
rs2823830	1.00[EUR][1000 genomes]
rs2823831	1.00[EUR][1000 genomes]
rs2823834	1.00[EUR][1000 genomes]
rs2823835	1.00[EUR][1000 genomes]
rs2823853	1.00[EUR][1000 genomes]
rs2823854	1.00[EUR][1000 genomes]
rs2823855	1.00[EUR][1000 genomes]
rs2823860	1.00[EUR][1000 genomes]
rs2823866	1.00[EUR][1000 genomes]
rs2823882	1.00[ASN][1000 genomes]
rs2823883	1.00[ASN][1000 genomes]
rs28496427	1.00[EUR][1000 genomes]
rs28578155	1.00[ASN][1000 genomes]
rs28875621	1.00[EUR][1000 genomes]
rs2896759	1.00[EUR][1000 genomes]
rs2896760	1.00[EUR][1000 genomes]
rs57523013	1.00[EUR][1000 genomes]
rs58072187	1.00[EUR][1000 genomes]
rs58175294	1.00[EUR][1000 genomes]
rs58304651	1.00[EUR][1000 genomes]
rs58640456	1.00[EUR][1000 genomes]
rs60754236	1.00[EUR][1000 genomes]
rs7277815	1.00[EUR][1000 genomes]
rs7278273	1.00[EUR][1000 genomes]
rs7280438	1.00[EUR][1000 genomes]
rs7283241	1.00[EUR][1000 genomes]
rs7283307	1.00[EUR][1000 genomes]
rs7283311	1.00[EUR][1000 genomes]
rs73363406	1.00[EUR][1000 genomes]
rs73363409	1.00[EUR][1000 genomes]
rs73363411	1.00[EUR][1000 genomes]
rs73366681	1.00[EUR][1000 genomes]
rs73366695	1.00[EUR][1000 genomes]
rs73368504	1.00[EUR][1000 genomes]
rs73368506	1.00[EUR][1000 genomes]
rs73368523	1.00[EUR][1000 genomes]
rs73380344	1.00[EUR][1000 genomes]
rs8126583	1.00[ASN][1000 genomes]
rs8128684	1.00[EUR][1000 genomes]
rs8132608	1.00[EUR][1000 genomes]
rs8132951	1.00[EUR][1000 genomes]
rs8133408	1.00[EUR][1000 genomes]
rs9305773	1.00[EUR][1000 genomes]
rs9974715	1.00[ASN][1000 genomes]
rs9976320	1.00[EUR][1000 genomes]
rs9976683	1.00[EUR][1000 genomes]
rs9977870	1.00[EUR][1000 genomes]
rs9981475	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064857	chr21:17628760-18533131	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases
2	nsv544382	chr21:17628760-18533131	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	345 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17910200-17942000	Weak transcription	Brain Anterior Caudate	brain
2	chr21:17910200-17943200	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr21:17910600-17934200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr21:17912200-17936000	Weak transcription	Adipose Nuclei	Adipose
5	chr21:17912200-17942000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr21:17912400-17934400	Weak transcription	Fetal Brain Male	brain
7	chr21:17916200-17931800	Weak transcription	Fetal Brain Female	brain
8	chr21:17918000-17935600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr21:17918600-17935800	Weak transcription	Fetal Stomach	stomach
10	chr21:17919000-17935800	Weak transcription	HSMMtube	muscle
11	chr21:17922800-17935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:17923800-17942000	Weak transcription	Right Ventricle	heart
13	chr21:17924000-17935000	Weak transcription	HSMM	muscle
14	chr21:17924000-17935400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr21:17924200-17929800	Weak transcription	A549	lung
16	chr21:17924200-17941000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr21:17925400-17960400	Weak transcription	Esophagus	oesophagus
18	chr21:17926000-17934400	Weak transcription	Hela-S3	cervix
19	chr21:17926200-17935200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr21:17927200-17929800	Weak transcription	Fetal Kidney	kidney
21	chr21:17927200-17935800	Weak transcription	Right Atrium	heart
22	chr21:17927200-17942000	Weak transcription	Brain Hippocampus Middle	brain
23	chr21:17927200-17950200	Weak transcription	Fetal Lung	lung
24	chr21:17927200-17950800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:17927400-17935800	Weak transcription	HUVEC	blood vessel
26	chr21:17927400-17936000	Weak transcription	Ovary	ovary
27	chr21:17927400-17942000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr21:17927600-17933600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr21:17927600-17934200	Weak transcription	Left Ventricle	heart
30	chr21:17927800-17930200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:17929000-17930200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr21:17929000-17934200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr21:17929000-17935400	Weak transcription	Liver	Liver
34	chr21:17929000-17935600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr21:17929000-17935800	Weak transcription	Fetal Muscle Leg	muscle
36	chr21:17929000-17936200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr21:17929000-17938200	Weak transcription	Fetal Muscle Trunk	muscle

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