Variant report

Variant	rs13051739
Chromosome Location	chr21:39853857-39853858
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr21:39848201..39851847-chr21:39852141..39856874,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1041795	0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs12481801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2212933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2836435	0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs3787903	1.00[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7282099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9978004	0.82[JPT][hapmap];0.89[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	chr21:39848400-39858600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr21:39849600-39858600	Enhancers	Primary hematopoietic stem cells	blood
7	chr21:39850400-39858200	Weak transcription	Right Atrium	heart
8	chr21:39850600-39854800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr21:39851200-39856000	Weak transcription	NH-A	brain
10	chr21:39852000-39856400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr21:39852200-39858000	Weak transcription	Lung	lung
12	chr21:39852200-39858800	Weak transcription	Fetal Thymus	thymus
13	chr21:39852200-39860000	Weak transcription	Spleen	Spleen
14	chr21:39852400-39855800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr21:39852400-39857400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr21:39852400-39858000	Weak transcription	Aorta	Aorta
17	chr21:39852400-39858000	Weak transcription	Left Ventricle	heart
18	chr21:39852600-39855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr21:39852800-39855000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr21:39852800-39855000	Weak transcription	HMEC	breast
21	chr21:39853200-39855400	Weak transcription	NHEK	skin
22	chr21:39853400-39856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:39853600-39854000	Enhancers	Fetal Heart	heart
24	chr21:39853600-39854000	Flanking Active TSS	HUVEC	blood vessel
25	chr21:39853600-39854400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr21:39853800-39854200	Enhancers	Adipose Nuclei	Adipose

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