Variant report

Variant	rs2226796
Chromosome Location	chr21:17999768-17999769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11911978	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12482916	0.93[ASN][1000 genomes]
rs13046182	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13047919	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13051103	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13051522	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1987394	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2211980	0.84[ASN][1000 genomes]
rs2211981	0.93[ASN][1000 genomes]
rs2211982	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2211983	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2211984	0.95[ASN][1000 genomes]
rs2211985	0.95[ASN][1000 genomes]
rs2212854	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2226436	0.92[EUR][1000 genomes]
rs2226437	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2823912	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823914	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823915	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2823917	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4816733	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4818274	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55825037	0.88[EUR][1000 genomes]
rs7275612	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7279443	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73197869	0.88[EUR][1000 genomes]

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	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
3	nsv834052	chr21:17967385-18142224	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17961200-18003800	Weak transcription	Aorta	Aorta
2	chr21:17969000-18005200	Weak transcription	Liver	Liver
3	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
4	chr21:17976000-18001400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
6	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain
7	chr21:17982000-18005000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr21:17982400-18006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr21:17986200-18003000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr21:17989000-18006200	Weak transcription	Fetal Stomach	stomach
11	chr21:17990200-18005200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr21:17992200-18006200	Weak transcription	Adipose Nuclei	Adipose
13	chr21:17994000-18002800	Weak transcription	Fetal Muscle Leg	muscle
14	chr21:17994200-18006200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr21:17997200-18004600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17997200-18006200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr21:17997200-18006200	Weak transcription	Ovary	ovary
18	chr21:17997200-18006200	Weak transcription	Psoas Muscle	Psoas
19	chr21:17997400-18002800	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:17997400-18002800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr21:17997400-18002800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr21:17997400-18003800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr21:17997400-18004800	Weak transcription	Brain Germinal Matrix	brain
24	chr21:17997400-18005000	Weak transcription	Fetal Brain Female	brain
25	chr21:17997400-18006200	Weak transcription	Brain Substantia Nigra	brain
26	chr21:17997400-18006800	Weak transcription	Brain Anterior Caudate	brain
27	chr21:17997400-18006800	Weak transcription	Fetal Kidney	kidney
28	chr21:17997400-18006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr21:17998200-18005400	Weak transcription	Fetal Brain Male	brain
30	chr21:17999400-18003600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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