Variant report

Variant	rs4671986
Chromosome Location	chr2:55112183-55112184
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:10)

rs_ID	r²[population]
rs10189076	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10189184	0.94[EUR][1000 genomes]
rs10191555	0.94[EUR][1000 genomes]
rs1438817	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2033412	0.86[EUR][1000 genomes]
rs2163618	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4341981	0.81[EUR][1000 genomes]
rs4671985	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs891777	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs891778	0.89[EUR][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	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv834069	chr2:55096597-55251680	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55068600-55122400	Weak transcription	Brain Anterior Caudate	brain
2	chr2:55081400-55122400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr2:55087800-55126000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr2:55095200-55148200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr2:55106600-55124000	Weak transcription	Spleen	Spleen
6	chr2:55107400-55122600	Weak transcription	Brain Substantia Nigra	brain
7	chr2:55109200-55115800	Weak transcription	HSMMtube	muscle
8	chr2:55109200-55126800	Weak transcription	Brain Angular Gyrus	brain
9	chr2:55109200-55127600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:55110600-55112400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:55111600-55122400	Weak transcription	HepG2	liver

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

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