Variant report

Variant	rs1368254
Chromosome Location	chr12:105785482-105785483
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10160903	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10861419	0.89[ASN][1000 genomes]
rs10861420	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10861421	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10861423	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12820715	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12820743	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1368253	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1534253	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs4399405	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964365	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4964366	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7132611	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs934413	0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899500	chr12:105742674-105803028	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105764800-105803600	Weak transcription	Thymus	Thymus
2	chr12:105777000-105787400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:105777200-105787200	Weak transcription	NH-A	brain
4	chr12:105777200-105787200	Weak transcription	NHDF-Ad	bronchial
5	chr12:105777200-105787400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:105777200-105787400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:105777200-105793400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:105777400-105793200	Weak transcription	Aorta	Aorta
9	chr12:105779000-105787400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:105779000-105787400	Weak transcription	HSMM	muscle
11	chr12:105779200-105787200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:105779200-105787400	Weak transcription	Osteobl	bone
13	chr12:105779600-105785600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:105779600-105787600	Weak transcription	HSMMtube	muscle
15	chr12:105783600-105793000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:105783600-105793000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:105783800-105787400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:105784800-105787600	Weak transcription	NHLF	lung
19	chr12:105785000-105785600	Enhancers	Pancreas	Pancrea

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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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