Variant report

Variant	rs73215563
Chromosome Location	chr21:40418301-40418302
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17231059	1.00[ASN][1000 genomes]
rs2836885	1.00[ASN][1000 genomes]
rs2836939	1.00[ASN][1000 genomes]
rs34160989	1.00[ASN][1000 genomes]
rs34304022	1.00[ASN][1000 genomes]
rs73215562	1.00[ASN][1000 genomes]
rs73222852	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv587477	chr21:40228920-40512004	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1061831	chr21:40376316-40583555	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv544443	chr21:40376316-40583555	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40410400-40418400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr21:40410600-40419800	Weak transcription	HepG2	liver
3	chr21:40413000-40418400	Weak transcription	Adipose Nuclei	Adipose
4	chr21:40413800-40418400	Weak transcription	Placenta	Placenta
5	chr21:40414000-40419400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr21:40414000-40422800	Weak transcription	Right Atrium	heart
7	chr21:40414000-40423000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr21:40414000-40429000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr21:40414200-40418400	Weak transcription	Left Ventricle	heart
10	chr21:40414200-40418400	Weak transcription	Lung	lung
11	chr21:40414200-40418800	Weak transcription	Psoas Muscle	Psoas
12	chr21:40414200-40422400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr21:40414200-40422800	Weak transcription	Right Ventricle	heart
14	chr21:40414400-40418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr21:40414800-40418600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr21:40414800-40418800	Weak transcription	Stomach Mucosa	stomach
17	chr21:40415000-40418600	Weak transcription	Fetal Muscle Leg	muscle
18	chr21:40417600-40419200	Enhancers	Esophagus	oesophagus
19	chr21:40417600-40419600	Enhancers	NHEK	skin
20	chr21:40417800-40420200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr21:40417800-40421400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr21:40418000-40420400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr21:40418200-40419000	Enhancers	HUVEC	blood vessel
24	chr21:40418200-40419200	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links