Variant report

Variant	rs9320148
Chromosome Location	chr6:106524830-106524831
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17558727	1.00[CHB][hapmap];0.81[JPT][hapmap];0.96[ASN][1000 genomes]
rs4336479	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4443535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6913893	1.00[ASN][1000 genomes]
rs9398059	0.94[ASN][1000 genomes]
rs9398063	0.98[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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1025231	chr6:106451012-106634389	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv830755	chr6:106461705-106624202	Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9320148	PRDM1	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106518000-106530000	Weak transcription	NHEK	skin
2	chr6:106518600-106530400	Strong transcription	Fetal Intestine Small	intestine
3	chr6:106519000-106528000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:106523400-106525000	Strong transcription	Fetal Intestine Large	intestine
5	chr6:106524000-106526600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:106524600-106525000	Enhancers	Brain Germinal Matrix	brain
7	chr6:106524600-106525400	Enhancers	Sigmoid Colon	Sigmoid Colon
8	chr6:106524600-106526400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:106524600-106527200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:106524800-106525400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:106524800-106526000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr6:106524800-106526400	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

Quick Search:

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

what's new

Quick links