Variant report

Variant	rs12278300
Chromosome Location	chr11:102417397-102417398
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11225220	1.00[AMR][1000 genomes]
rs11225313	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11225318	1.00[AMR][1000 genomes]
rs12278022	1.00[AMR][1000 genomes]
rs12278482	1.00[AMR][1000 genomes]
rs12282349	1.00[AMR][1000 genomes]
rs12294787	1.00[AMR][1000 genomes]
rs17098271	1.00[AMR][1000 genomes]
rs17099344	1.00[AMR][1000 genomes]
rs7952037	1.00[AMR][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	nsv1035567	chr11:102264516-102431607	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	esv1815657	chr11:102413582-102490794	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv826060	chr11:102414956-102425329	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv818861	chr11:102415859-102423890	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:102413800-102417600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr11:102414800-102419600	Enhancers	Primary B cells from peripheral blood	blood
3	chr11:102415400-102418800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr11:102415400-102419000	Enhancers	Primary B cells from cord blood	blood
5	chr11:102415400-102420200	Enhancers	GM12878-XiMat	blood
6	chr11:102416200-102417600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr11:102416400-102417800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:102416400-102429400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:102416600-102417400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr11:102416600-102417800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr11:102416600-102418800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr11:102416600-102422000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr11:102416800-102417400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr11:102416800-102434400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:102417000-102417400	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:102417000-102417600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:102417200-102418000	Weak transcription	Sigmoid Colon	Sigmoid 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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