Variant report

Variant	rs28743106
Chromosome Location	chr21:28311151-28311152
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16979423	0.90[ASN][1000 genomes]
rs2830582	0.90[ASN][1000 genomes]
rs2830587	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs56297631	0.90[ASN][1000 genomes]
rs59533344	0.90[ASN][1000 genomes]
rs73187807	0.90[ASN][1000 genomes]
rs7510287	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][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	nsv1066573	chr21:28096356-28374354	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1057400	chr21:28104936-28359948	Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv834068	chr21:28179670-28360808	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:28291000-28311800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr21:28291600-28312200	Strong transcription	HSMM	muscle
3	chr21:28293000-28334800	Weak transcription	Hela-S3	cervix
4	chr21:28294600-28318000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr21:28294600-28318200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr21:28295400-28318200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr21:28296600-28315400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr21:28296800-28318200	Weak transcription	Left Ventricle	heart
9	chr21:28297000-28311800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr21:28298600-28311600	Weak transcription	Brain Germinal Matrix	brain
11	chr21:28298600-28313000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr21:28298800-28318200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr21:28300200-28311200	Weak transcription	NHLF	lung
14	chr21:28301800-28313000	Strong transcription	HSMMtube	muscle
15	chr21:28305800-28319200	Weak transcription	Placenta	Placenta
16	chr21:28306600-28311800	Weak transcription	Osteobl	bone
17	chr21:28306600-28333600	Weak transcription	Fetal Intestine Large	intestine
18	chr21:28307200-28311800	Weak transcription	Stomach Smooth Muscle	stomach
19	chr21:28307200-28312200	Weak transcription	Fetal Intestine Small	intestine
20	chr21:28307400-28311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr21:28307400-28318200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr21:28307400-28318200	Weak transcription	Fetal Stomach	stomach
23	chr21:28307600-28324800	Weak transcription	Fetal Muscle Trunk	muscle
24	chr21:28308600-28311200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr21:28308600-28311200	Weak transcription	Colon Smooth Muscle	Colon
26	chr21:28308800-28311200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr21:28308800-28311200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr21:28308800-28312000	Weak transcription	Fetal Kidney	kidney
29	chr21:28309600-28311200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr21:28309600-28337200	Weak transcription	Fetal Heart	heart
31	chr21:28309800-28311200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr21:28309800-28311200	Weak transcription	Fetal Lung	lung
33	chr21:28310000-28311400	Weak transcription	Adipose Nuclei	Adipose
34	chr21:28310200-28311200	Weak transcription	NHDF-Ad	bronchial
35	chr21:28310600-28313200	Enhancers	Liver	Liver
36	chr21:28310800-28311200	Genic enhancers	Ovary	ovary
37	chr21:28310800-28312200	Strong transcription	Fetal Muscle Leg	muscle
38	chr21:28311000-28313000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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