Variant report

Variant	rs28483187
Chromosome Location	chr21:17657556-17657557
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1492954	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492955	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1492956	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs239051	0.90[ASN][1000 genomes]
rs239055	0.96[ASN][1000 genomes]
rs239056	0.93[ASN][1000 genomes]
rs239060	0.88[ASN][1000 genomes]
rs239063	0.88[ASN][1000 genomes]
rs239064	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs239065	0.87[ASN][1000 genomes]
rs2823735	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2823736	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823737	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2823738	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2823743	0.82[AMR][1000 genomes];0.84[EUR][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	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
4	esv2298820	chr21:17657556-17657557	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:41 , 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	chr21:17653200-17658200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr21:17653200-17659200	Weak transcription	Aorta	Aorta
5	chr21:17653400-17657800	Weak transcription	Fetal Muscle Leg	muscle
6	chr21:17653400-17658000	Weak transcription	HSMMtube	muscle
7	chr21:17653400-17658200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr21:17653600-17659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr21:17653800-17659000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr21:17654000-17657800	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr21:17654200-17657800	Weak transcription	Fetal Lung	lung
12	chr21:17654200-17658200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr21:17654800-17657600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr21:17654800-17657800	Weak transcription	Fetal Kidney	kidney
15	chr21:17654800-17658000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr21:17654800-17666600	Weak transcription	Fetal Heart	heart
17	chr21:17655000-17657800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr21:17655000-17657800	Weak transcription	Psoas Muscle	Psoas
19	chr21:17655200-17657800	Enhancers	Brain Substantia Nigra	brain
20	chr21:17655200-17657800	Weak transcription	NH-A	brain
21	chr21:17655800-17658200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr21:17656000-17658200	Enhancers	Brain Angular Gyrus	brain
23	chr21:17656400-17657600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr21:17656600-17657600	Weak transcription	Brain Germinal Matrix	brain
25	chr21:17656600-17657800	Enhancers	Fetal Brain Male	brain
26	chr21:17656800-17657600	Weak transcription	Colon Smooth Muscle	Colon
27	chr21:17656800-17657800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr21:17656800-17658400	Weak transcription	Adipose Nuclei	Adipose
29	chr21:17656800-17659200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr21:17656800-17663000	Weak transcription	Liver	Liver
31	chr21:17657000-17657600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr21:17657000-17657800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr21:17657000-17657800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr21:17657000-17658200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr21:17657000-17659400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr21:17657200-17657600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr21:17657200-17657600	Weak transcription	Ovary	ovary
38	chr21:17657200-17657600	Weak transcription	Right Atrium	heart
39	chr21:17657400-17657800	Enhancers	Brain Hippocampus Middle	brain
40	chr21:17657400-17658000	Enhancers	Brain Anterior Caudate	brain
41	chr21:17657400-17658000	Enhancers	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links