Variant report

Variant	rs2830922
Chromosome Location	chr21:28779600-28779601
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2830917	0.81[ASN][1000 genomes]
rs36057812	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067475	chr21:28238746-29046707	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv459229	chr21:28543456-29482488	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv587342	chr21:28543456-29482488	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv913666	chr21:28687650-28810976	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv916307	chr21:28762455-28905095	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28772600-28786200	Weak transcription	Fetal Heart	heart
2	chr21:28777000-28780000	Enhancers	NHDF-Ad	bronchial
3	chr21:28777400-28781400	Weak transcription	Fetal Muscle Leg	muscle
4	chr21:28777600-28781000	Enhancers	Fetal Stomach	stomach
5	chr21:28777800-28780000	Enhancers	Adipose Nuclei	Adipose
6	chr21:28778000-28780000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr21:28778400-28779600	Enhancers	Osteobl	bone
8	chr21:28778400-28779800	Enhancers	Muscle Satellite Cultured Cells	--
9	chr21:28778600-28779800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr21:28778800-28779600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr21:28778800-28779600	Enhancers	Brain Angular Gyrus	brain
12	chr21:28778800-28779600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr21:28778800-28779600	Enhancers	Fetal Kidney	kidney
14	chr21:28778800-28780000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr21:28779000-28779800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr21:28779000-28779800	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr21:28779000-28781400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr21:28779000-28786000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr21:28779200-28779600	Weak transcription	Small Intestine	intestine
20	chr21:28779200-28779800	Enhancers	Colon Smooth Muscle	Colon
21	chr21:28779200-28780000	Active TSS	Brain Inferior Temporal Lobe	brain
22	chr21:28779400-28779800	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr21:28779400-28779800	Flanking Active TSS	Brain Substantia Nigra	brain
24	chr21:28779400-28779800	Flanking Active TSS	Ovary	ovary
25	chr21:28779400-28780000	Flanking Active TSS	Brain Anterior Caudate	brain
26	chr21:28779400-28780000	Enhancers	Fetal Brain Female	brain
27	chr21:28779400-28780000	Flanking Active TSS	Fetal Lung	lung
28	chr21:28779600-28780000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr21:28779600-28780000	Enhancers	Small Intestine	intestine

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