Variant report

Variant	rs11683472
Chromosome Location	chr2:99719230-99719231
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10166721	1.00[AMR][1000 genomes]
rs3851335	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6542874	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs896885	1.00[AMR][1000 genomes];0.90[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	nsv1007718	chr2:99542281-99729107	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99718000-99740200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:99718200-99729400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr2:99718400-99722000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr2:99718400-99722800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:99718400-99723800	Weak transcription	Ovary	ovary
6	chr2:99718400-99724200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:99718600-99722000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:99718600-99722200	Weak transcription	Adipose Nuclei	Adipose
9	chr2:99718600-99739600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:99718800-99723400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:99718800-99723400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:99718800-99727200	Weak transcription	Primary T cells from cord blood	blood

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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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