Variant report

Variant	rs4972824
Chromosome Location	chr2:173264702-173264703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10930554	0.85[AFR][1000 genomes]
rs17220454	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17286255	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882165	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1920981	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2141699	0.88[AFR][1000 genomes]
rs34924026	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4972507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972508	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972822	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4972825	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62169704	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173259000-173268400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr2:173260800-173266800	Weak transcription	Fetal Thymus	thymus
3	chr2:173262200-173269600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:173262600-173266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:173262600-173268000	Weak transcription	Esophagus	oesophagus
6	chr2:173262800-173267400	Weak transcription	NHEK	skin
7	chr2:173263400-173266800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:173263400-173266800	Weak transcription	Left Ventricle	heart
9	chr2:173263400-173266800	Weak transcription	Right Ventricle	heart
10	chr2:173263400-173268000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:173263400-173268200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:173263400-173273000	Weak transcription	Right Atrium	heart
13	chr2:173263600-173272800	Weak transcription	Fetal Muscle Leg	muscle
14	chr2:173264000-173264800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:173264400-173264800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:173264400-173264800	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:173264400-173264800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr2:173264400-173265800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:173264600-173264800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:173264600-173264800	Flanking Active TSS	HepG2	liver
21	chr2:173264600-173264800	Enhancers	HSMMtube	muscle
22	chr2:173264600-173268000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:173264600-173268200	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links