Variant report

Variant	rs2730983
Chromosome Location	chr12:43127101-43127102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10161278	0.89[AFR][1000 genomes]
rs10785374	0.89[AFR][1000 genomes]
rs1356421	0.90[ASN][1000 genomes]
rs1914489	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2250302	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044790	chr12:42672255-43344184	Enhancers Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
2	nsv541483	chr12:42672255-43344184	Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv832389	chr12:43003361-43173896	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2730983	KIF21A	cis	cerebellum	SCAN
rs2730983	NELL2	cis	cerebellum	SCAN

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:43119600-43130000	Weak transcription	Esophagus	oesophagus
2	chr12:43123800-43128800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr12:43124200-43129200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:43124200-43129600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:43124400-43128800	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:43124400-43129400	Weak transcription	Fetal Stomach	stomach
7	chr12:43124400-43129800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:43124600-43129800	Weak transcription	HMEC	breast
9	chr12:43126200-43127200	Weak transcription	Fetal Heart	heart
10	chr12:43126800-43127400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:43127000-43127200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:43127000-43127200	Enhancers	NHDF-Ad	bronchial
13	chr12:43127000-43127400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:43127000-43128200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:43127000-43131800	Enhancers	Skeletal Muscle Male	skeletal muscle

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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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