Variant report

Variant	rs12133857
Chromosome Location	chr1:215264486-215264487
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10779637	0.93[CEU][hapmap];0.82[CHB][hapmap];0.93[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11120483	0.93[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs11120486	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12066755	1.00[CEU][hapmap]
rs12088480	0.93[CEU][hapmap];0.82[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12092312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12092515	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12136349	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs2363564	0.83[YRI][hapmap]
rs28545309	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28753797	0.81[EUR][1000 genomes]
rs4634877	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs6665177	0.93[CEU][hapmap]
rs66943143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67098096	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7522445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7528306	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.94[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7528988	0.82[JPT][hapmap]

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	esv2754411	chr1:215235605-215281605	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv873169	chr1:215264486-215453286	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12133857	NENF	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215258200-215277600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:215258400-215265000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:215258400-215267400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:215258400-215277600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:215260200-215265600	Weak transcription	Gastric	stomach
6	chr1:215261400-215265200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:215261600-215266000	Weak transcription	NHLF	lung
8	chr1:215261600-215266600	Strong transcription	Osteobl	bone
9	chr1:215261800-215264600	Weak transcription	Fetal Brain Female	brain
10	chr1:215262000-215266000	Strong transcription	NHDF-Ad	bronchial
11	chr1:215262000-215267800	Weak transcription	Fetal Brain Male	brain
12	chr1:215262400-215265000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:215263000-215265400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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