Variant report

Variant	rs4271458
Chromosome Location	chr12:117553757-117553758
allele	A/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]
rs10850760	0.85[EUR][1000 genomes]
rs2893705	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3862136	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7300649	0.85[EUR][1000 genomes]
rs7301810	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7967489	0.90[AMR][1000 genomes];0.86[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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv899542	chr12:117549739-117623136	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117537600-117556400	Weak transcription	Right Atrium	heart
2	chr12:117550000-117556200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:117550400-117556000	Weak transcription	Fetal Lung	lung
4	chr12:117550400-117556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:117550600-117558800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr12:117550800-117559200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:117551600-117566000	Weak transcription	Spleen	Spleen
8	chr12:117551800-117556000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:117551800-117556600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:117552000-117556400	Weak transcription	Right Ventricle	heart
11	chr12:117553000-117555600	Weak transcription	HepG2	liver
12	chr12:117553000-117555800	Weak transcription	Fetal Heart	heart
13	chr12:117553000-117556000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr12:117553000-117556600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:117553000-117563800	Weak transcription	Pancreas	Pancrea
16	chr12:117553200-117556600	Weak transcription	Fetal Thymus	thymus
17	chr12:117553400-117562600	Weak transcription	Brain Inferior Temporal Lobe	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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