Variant report

Variant	rs2555721
Chromosome Location	chr8:125951673-125951674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1317859	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1427089	0.82[EUR][1000 genomes]
rs2555716	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv1030803	chr8:125868684-125969635	Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1024405	chr8:125868684-125971035	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv1020502	chr8:125868684-125972572	Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2555721	TRMT12	cis	parietal	SCAN
rs2555721	MTSS1	cis	cerebellum	SCAN
rs2555721	NSMCE2	cis	parietal	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125948800-125952000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
2	chr8:125949200-125954000	Weak transcription	Left Ventricle	heart
3	chr8:125949600-125951800	Weak transcription	Brain Germinal Matrix	brain
4	chr8:125950000-125954200	Weak transcription	Right Ventricle	heart
5	chr8:125950000-125958200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:125950200-125953400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:125950200-125954200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr8:125950800-125951800	Enhancers	Fetal Muscle Leg	muscle
9	chr8:125951000-125951800	Enhancers	Fetal Muscle Trunk	muscle
10	chr8:125951200-125952000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:125951400-125951800	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr8:125951600-125951800	Enhancers	Lung	lung
13	chr8:125951600-125951800	Enhancers	HSMMtube	muscle
14	chr8:125951600-125952000	Enhancers	Right Atrium	heart
15	chr8:125951600-125952000	Enhancers	Spleen	Spleen
16	chr8:125951600-125952000	Flanking Active TSS	K562	blood

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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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