Variant report

Variant	rs71428044
Chromosome Location	chr2:145471210-145471211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs55647125	0.96[AFR][1000 genomes]
rs55665103	0.96[AFR][1000 genomes]
rs55701936	0.85[AFR][1000 genomes]
rs55992490	0.96[AFR][1000 genomes]
rs56049026	0.96[AFR][1000 genomes]
rs56824932	0.96[AFR][1000 genomes]
rs57273989	0.96[AFR][1000 genomes]
rs59274820	0.85[AFR][1000 genomes]
rs59373132	0.85[AFR][1000 genomes]
rs60328211	0.82[AFR][1000 genomes]
rs61697170	0.85[AFR][1000 genomes]
rs73962063	0.82[AFR][1000 genomes]
rs73962084	0.85[AFR][1000 genomes]
rs73962088	0.85[AFR][1000 genomes]
rs73962089	0.96[AFR][1000 genomes]
rs73962094	0.96[AFR][1000 genomes]
rs73962096	0.96[AFR][1000 genomes]
rs73962101	0.96[AFR][1000 genomes]
rs73963909	0.85[AFR][1000 genomes]
rs73963910	0.85[AFR][1000 genomes]
rs73963912	0.96[AFR][1000 genomes]
rs73963913	0.96[AFR][1000 genomes]
rs73963914	0.96[AFR][1000 genomes]
rs73963915	0.96[AFR][1000 genomes]
rs73963917	0.96[AFR][1000 genomes]
rs73963918	0.96[AFR][1000 genomes]
rs73963920	0.85[AFR][1000 genomes]
rs73963921	0.96[AFR][1000 genomes]
rs73963922	0.85[AFR][1000 genomes]
rs73963923	0.96[AFR][1000 genomes]
rs73963924	0.96[AFR][1000 genomes]
rs73963925	0.96[AFR][1000 genomes]
rs73963926	0.96[AFR][1000 genomes]
rs73963931	0.89[AFR][1000 genomes]
rs73963936	0.89[AFR][1000 genomes]
rs73963941	0.96[AFR][1000 genomes]
rs73963943	0.85[AFR][1000 genomes]
rs73963945	0.96[AFR][1000 genomes]
rs73963947	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv529501	chr2:145257682-145485605	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv834397	chr2:145439528-145608628	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145463200-145495600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:145464600-145473400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:145468600-145473400	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:145468800-145471400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr2:145469000-145471800	Enhancers	Fetal Heart	heart
6	chr2:145470000-145471800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:145470200-145473400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr2:145470200-145473600	Weak transcription	Aorta	Aorta
9	chr2:145470400-145471400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr2:145470800-145472000	Weak transcription	HSMMtube	muscle
11	chr2:145471000-145471600	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:145471200-145471400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:145471200-145471400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:145471200-145471600	Enhancers	HUVEC	blood vessel

Quick Search:

Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

what's new

Quick links