Variant report

Variant	rs62219570
Chromosome Location	chr21:39852079-39852080
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2410033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2836417	0.84[ASN][1000 genomes]
rs2836431	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836433	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2836437	0.85[ASN][1000 genomes]
rs960818	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059340	chr21:39817504-39881353	Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1064436	chr21:39846571-39875576	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:39843400-39855200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr21:39843400-39858200	Weak transcription	Esophagus	oesophagus
3	chr21:39846400-39855600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr21:39846400-39855800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr21:39847400-39852400	Enhancers	Left Ventricle	heart
6	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
7	chr21:39849000-39852200	Enhancers	Fetal Thymus	thymus
8	chr21:39849200-39852800	Enhancers	HMEC	breast
9	chr21:39849600-39852800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
11	chr21:39850000-39852200	Genic enhancers	HUVEC	blood vessel
12	chr21:39850000-39852400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr21:39850000-39852600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
15	chr21:39850600-39854800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr21:39851000-39853600	Weak transcription	Fetal Heart	heart
17	chr21:39851000-39853800	Weak transcription	Adipose Nuclei	Adipose
18	chr21:39851200-39856000	Weak transcription	NH-A	brain
19	chr21:39851400-39852200	Enhancers	Spleen	Spleen
20	chr21:39851800-39852200	Genic enhancers	Lung	lung
21	chr21:39852000-39852200	Enhancers	Psoas Muscle	Psoas
22	chr21:39852000-39852400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr21:39852000-39852400	Enhancers	Aorta	Aorta
24	chr21:39852000-39852800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr21:39852000-39853200	Enhancers	NHEK	skin
26	chr21:39852000-39856400	Weak transcription	Primary neutrophils fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links