Variant report

Variant	rs59252966
Chromosome Location	chr12:117130123-117130124
allele	A/G
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]
rs57743252	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59120116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60470796	1.00[AMR][1000 genomes]
rs60644212	1.00[AMR][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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv521649	chr12:117127540-117136787	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:117125000-117130800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:117126000-117131400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:117126000-117133000	Weak transcription	Spleen	Spleen
4	chr12:117126200-117130800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:117126200-117131600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:117127600-117134800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr12:117128000-117130200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:117128000-117130400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:117128200-117130200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:117128400-117130200	Weak transcription	Brain Germinal Matrix	brain
11	chr12:117128400-117131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:117128600-117130800	Weak transcription	Fetal Brain Female	brain
13	chr12:117129000-117130600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:117129600-117130200	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr12:117129800-117130600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:117129800-117131400	Weak transcription	Gastric	stomach
17	chr12:117130000-117131200	Enhancers	Fetal Brain Male	brain

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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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