Variant report

Variant	rs12421146
Chromosome Location	chr11:59042012-59042013
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35470396	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61903330	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61904569	0.81[ASN][1000 genomes]
rs7129722	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7928120	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1050013	chr11:58394598-59221090	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv948365	chr11:58515163-59156405	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	esv1821250	chr11:58925860-59059179	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	esv3351601	chr11:58979308-59052763	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv3381199	chr11:59015574-59068938	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1046084	chr11:59034871-59314519	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59037000-59044600	Enhancers	Primary B cells from peripheral blood	blood
2	chr11:59037400-59043400	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:59038200-59043000	Enhancers	Primary hematopoietic stem cells	blood
4	chr11:59038600-59042800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr11:59039600-59042200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:59039800-59042800	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr11:59040000-59042200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr11:59040200-59042200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr11:59040400-59042600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr11:59041000-59043200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr11:59041000-59043800	Enhancers	Primary B cells from cord blood	blood
12	chr11:59041200-59043000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr11:59041400-59042200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr11:59041400-59042800	Enhancers	GM12878-XiMat	blood
15	chr11:59041600-59042400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr11:59041800-59042600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:59042000-59042200	Enhancers	Colonic Mucosa	Colon

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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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