Variant report

Variant	rs855127
Chromosome Location	chr12:47713182-47713183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1549089	0.90[AFR][1000 genomes]
rs214655	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214656	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214658	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4768793	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4768794	0.85[AFR][1000 genomes];0.81[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	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv522275	chr12:47707836-47718183	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47709200-47727000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:47711200-47713800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:47711400-47714000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr12:47711400-47714000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:47711600-47713800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:47711600-47714800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr12:47711600-47714800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:47712200-47713800	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr12:47712400-47714000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr12:47712600-47714000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:47712800-47713800	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:47712800-47714000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:47712800-47714000	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr12:47713000-47717800	Weak transcription	Spleen	Spleen

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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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