Variant report

Variant	rs2035215
Chromosome Location	chr21:27821675-27821676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17002173	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17002187	0.82[EUR][1000 genomes]
rs2830228	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2830229	0.94[ASN][1000 genomes]
rs73363269	1.00[ASN][1000 genomes]
rs73363282	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056506	chr21:27332898-28049880	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv544412	chr21:27332898-28049880	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv459222	chr21:27635915-27850971	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv587334	chr21:27635915-27850971	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv587335	chr21:27715263-27955385	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv913660	chr21:27815652-27869676	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:27817600-27822000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr21:27818600-27822000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr21:27818600-27822400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr21:27819200-27822000	Enhancers	HSMM	muscle
5	chr21:27820200-27822000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr21:27820200-27822000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr21:27820200-27822000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr21:27820200-27822000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr21:27820400-27822000	Enhancers	Muscle Satellite Cultured Cells	--
10	chr21:27820600-27822000	Enhancers	NHLF	lung
11	chr21:27821000-27821800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:27821000-27822000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr21:27821000-27822000	Flanking Active TSS	HSMMtube	muscle
14	chr21:27821200-27821800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:27821200-27821800	Enhancers	Fetal Lung	lung
16	chr21:27821400-27821800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr21:27821400-27821800	Active TSS	NHDF-Ad	bronchial
18	chr21:27821400-27822000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr21:27821400-27822000	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr21:27821400-27822000	Enhancers	Brain Substantia Nigra	brain
21	chr21:27821400-27822000	Flanking Active TSS	HMEC	breast
22	chr21:27821600-27821800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr21:27821600-27822000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr21:27821600-27822000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr21:27821600-27822000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr21:27821600-27822000	Active TSS	Aorta	Aorta
27	chr21:27821600-27822000	Flanking Active TSS	NHEK	skin
28	chr21:27821600-27822000	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links