Variant report

Variant	rs16994646
Chromosome Location	chr21:17585837-17585838
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1492961	1.00[AMR][1000 genomes]
rs16994415	1.00[AMR][1000 genomes]
rs16994421	1.00[AMR][1000 genomes]
rs16994425	1.00[AMR][1000 genomes]
rs16994427	1.00[AMR][1000 genomes]
rs16994429	1.00[AMR][1000 genomes]
rs16994433	1.00[AMR][1000 genomes]
rs16994440	1.00[AMR][1000 genomes]
rs16994610	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs239081	1.00[AMR][1000 genomes]
rs41417245	1.00[AMR][1000 genomes]
rs8127337	1.00[AMR][1000 genomes]
rs8127343	1.00[AMR][1000 genomes]
rs8129316	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1066951	chr21:17458978-17603160	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv544381	chr21:17458978-17603160	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv432145	chr21:17559229-17628529	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv834051	chr21:17564843-17721764	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17576000-17596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr21:17583600-17586200	Enhancers	Brain Hippocampus Middle	brain
3	chr21:17584000-17587600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr21:17584000-17598800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr21:17584200-17586200	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr21:17584200-17587800	Weak transcription	Brain Substantia Nigra	brain
7	chr21:17584200-17592200	Weak transcription	Fetal Muscle Leg	muscle
8	chr21:17584200-17592200	Weak transcription	Fetal Stomach	stomach
9	chr21:17584400-17586800	Enhancers	Liver	Liver
10	chr21:17584400-17588200	Weak transcription	Colon Smooth Muscle	Colon
11	chr21:17584400-17596800	Weak transcription	Ovary	ovary
12	chr21:17584400-17619400	Weak transcription	Hela-S3	cervix
13	chr21:17584600-17587800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr21:17584600-17587800	Weak transcription	Fetal Lung	lung
15	chr21:17584600-17588000	Weak transcription	Fetal Kidney	kidney
16	chr21:17584600-17589000	Weak transcription	Right Atrium	heart
17	chr21:17584600-17596600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr21:17584600-17596600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr21:17585000-17586200	Enhancers	Fetal Heart	heart
20	chr21:17585000-17588600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr21:17585000-17592800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr21:17585000-17595200	Weak transcription	NHDF-Ad	bronchial
23	chr21:17585000-17612200	Weak transcription	Adipose Nuclei	Adipose
24	chr21:17585200-17588200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr21:17585200-17588200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr21:17585400-17586200	Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr21:17585400-17587800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr21:17585400-17588000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr21:17585400-17595000	Weak transcription	Brain Angular Gyrus	brain
30	chr21:17585400-17604400	Weak transcription	Psoas Muscle	Psoas
31	chr21:17585600-17586000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr21:17585600-17586000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr21:17585800-17586000	Enhancers	Brain Anterior Caudate	brain
34	chr21:17585800-17586200	Enhancers	HUVEC	blood vessel
35	chr21:17585800-17588000	Weak transcription	Dnd41	blood
36	chr21:17585800-17591800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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