Variant report

Variant	rs3021477
Chromosome Location	chr1:158146946-158146947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3 )
Associated
traits (count: 9 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3843309	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	nsv999542	chr1:158015715-158368132	Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv872479	chr1:158118787-158484285	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:9)

SNP	Gene	Cis/trans	Tissue	Source
rs3021477	AIM2	cis	cerebellum	SCAN
rs3021477	SNORA42	cis	parietal	SCAN
rs3021477	LCE3B	cis	cerebellum	SCAN
rs3021477	TPM3	cis	parietal	SCAN
rs3021477	TAGLN2	cis	cerebellum	SCAN
rs3021477	SPRR1A	cis	cerebellum	SCAN
rs3021477	S100A4	cis	parietal	SCAN
rs3021477	TTC24	cis	cerebellum	SCAN
rs3021477	LCE1E	cis	parietal	SCAN

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:158139400-158147400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:158143800-158149000	Weak transcription	Small Intestine	intestine
3	chr1:158145400-158147400	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:158145800-158147200	Enhancers	Primary B cells from cord blood	blood
5	chr1:158146000-158147000	Bivalent Enhancer	GM12878-XiMat	blood
6	chr1:158146200-158147200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr1:158146400-158147200	Enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:158146800-158147000	Enhancers	Liver	Liver
9	chr1:158146800-158147000	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr1:158146800-158147200	Enhancers	Fetal Muscle Leg	muscle
11	chr1:158146800-158147200	Enhancers	NHEK	skin
12	chr1:158146800-158147400	Bivalent Enhancer	Fetal Intestine Small	intestine

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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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