Variant report

Variant	rs2027622
Chromosome Location	chr21:18005516-18005517
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs2211989	1.00[AMR][1000 genomes]
rs58595990	1.00[AMR][1000 genomes]
rs60763849	1.00[AMR][1000 genomes]
rs73891634	0.85[AFR][1000 genomes]
rs73891670	1.00[AMR][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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17974000-18008800	Weak transcription	HUVEC	blood vessel
2	chr21:17978400-18006200	Weak transcription	Left Ventricle	heart
3	chr21:17979400-18006600	Weak transcription	Brain Hippocampus Middle	brain
4	chr21:17982400-18006200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr21:17989000-18006200	Weak transcription	Fetal Stomach	stomach
6	chr21:17992200-18006200	Weak transcription	Adipose Nuclei	Adipose
7	chr21:17994200-18006200	Weak transcription	Fetal Muscle Trunk	muscle
8	chr21:17997200-18006200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr21:17997200-18006200	Weak transcription	Ovary	ovary
10	chr21:17997200-18006200	Weak transcription	Psoas Muscle	Psoas
11	chr21:17997400-18006200	Weak transcription	Brain Substantia Nigra	brain
12	chr21:17997400-18006800	Weak transcription	Brain Anterior Caudate	brain
13	chr21:17997400-18006800	Weak transcription	Fetal Kidney	kidney
14	chr21:17997400-18006800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:18001400-18006800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr21:18002800-18006800	Weak transcription	Brain Cingulate Gyrus	brain
17	chr21:18003000-18006200	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr21:18003200-18006200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr21:18003200-18006400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr21:18003400-18006000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr21:18003600-18006200	Weak transcription	Fetal Muscle Leg	muscle
22	chr21:18003600-18015400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr21:18003800-18005800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr21:18004000-18005600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr21:18004200-18008200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr21:18004400-18005600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr21:18004800-18007800	Enhancers	Brain Germinal Matrix	brain
28	chr21:18005000-18006200	Enhancers	Fetal Brain Female	brain
29	chr21:18005000-18006400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr21:18005000-18006800	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr21:18005200-18005600	Enhancers	Osteobl	bone
32	chr21:18005200-18007400	Enhancers	H9 Cell Line	embryonic stem cell
33	chr21:18005200-18007400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr21:18005200-18007400	Enhancers	Liver	Liver
35	chr21:18005200-18008200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr21:18005400-18007200	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr21:18005400-18008000	Enhancers	Fetal Brain Male	brain

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