Variant report

Variant	rs942380
Chromosome Location	chr6:121854778-121854779
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4245512	0.81[AFR][1000 genomes]
rs6906692	0.88[ASN][1000 genomes]
rs7744054	0.97[ASN][1000 genomes]
rs7749923	0.93[ASN][1000 genomes]
rs7769602	0.86[AFR][1000 genomes]
rs9375038	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9375039	0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9387970	0.86[AFR][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	nsv886594	chr6:121837314-122043117	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv1847344	chr6:121845356-121875648	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv1844166	chr6:121845356-121880939	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs942380	DPYSL2	trans	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121851000-121855000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr6:121853000-121854800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr6:121853200-121857200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:121854000-121855000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr6:121854200-121854800	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr6:121854200-121855000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:121854400-121854800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:121854400-121854800	Enhancers	Brain Germinal Matrix	brain
9	chr6:121854400-121854800	Enhancers	NHEK	skin
10	chr6:121854400-121855200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:121854600-121854800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:121854600-121854800	Enhancers	Colon Smooth Muscle	Colon
13	chr6:121854600-121855000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:121854600-121855200	Enhancers	HMEC	breast

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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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