Variant report

Variant	rs239048
Chromosome Location	chr21:17654125-17654126
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs1389070	1.00[ASN][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	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
2	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
3	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:17634800-17667000	Weak transcription	Hela-S3	cervix
2	chr21:17649400-17657800	Weak transcription	Esophagus	oesophagus
3	chr21:17651400-17654600	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr21:17651600-17654400	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr21:17651800-17654400	Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr21:17651800-17654600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr21:17651800-17656200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr21:17652000-17654200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:17652000-17654800	Active TSS	Brain Angular Gyrus	brain
10	chr21:17652000-17654800	Enhancers	Fetal Heart	heart
11	chr21:17652200-17654600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr21:17652800-17654200	Enhancers	Fetal Lung	lung
13	chr21:17652800-17654800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr21:17652800-17654800	Enhancers	Brain Germinal Matrix	brain
15	chr21:17653000-17654200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr21:17653000-17654600	Enhancers	Liver	Liver
17	chr21:17653000-17654800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr21:17653000-17654800	Enhancers	Fetal Kidney	kidney
19	chr21:17653000-17655000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr21:17653000-17655200	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr21:17653200-17654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr21:17653200-17654800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr21:17653200-17654800	Enhancers	HUVEC	blood vessel
24	chr21:17653200-17656000	Weak transcription	Fetal Brain Male	brain
25	chr21:17653200-17656600	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:17653200-17657200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr21:17653200-17658200	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr21:17653200-17659200	Weak transcription	Aorta	Aorta
29	chr21:17653400-17654200	Weak transcription	Right Atrium	heart
30	chr21:17653400-17654400	Enhancers	Osteobl	bone
31	chr21:17653400-17654600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr21:17653400-17654600	Enhancers	Brain Cingulate Gyrus	brain
33	chr21:17653400-17654600	Weak transcription	Ovary	ovary
34	chr21:17653400-17654600	Weak transcription	Psoas Muscle	Psoas
35	chr21:17653400-17654600	Weak transcription	NHDF-Ad	bronchial
36	chr21:17653400-17655000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr21:17653400-17655200	Enhancers	Adipose Nuclei	Adipose
38	chr21:17653400-17655200	Enhancers	NH-A	brain
39	chr21:17653400-17657800	Weak transcription	Fetal Muscle Leg	muscle
40	chr21:17653400-17658000	Weak transcription	HSMMtube	muscle
41	chr21:17653400-17658200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr21:17653600-17654400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr21:17653600-17659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr21:17653800-17654600	Enhancers	Brain Hippocampus Middle	brain
45	chr21:17653800-17654600	Enhancers	Brain Substantia Nigra	brain
46	chr21:17653800-17655000	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr21:17653800-17659000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr21:17654000-17654600	Enhancers	Brain Anterior Caudate	brain
49	chr21:17654000-17654800	Active TSS	Fetal Brain Female	brain
50	chr21:17654000-17657800	Weak transcription	H1 Cell Line	embryonic stem cell

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