Variant report

Variant	rs253429
Chromosome Location	chr7:21451262-21451263
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs39293	0.84[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs39296	0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs39758	0.81[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	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs253429	SP8	cis	cerebellum	SCAN
rs253429	NPVF	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21450000-21451800	Enhancers	Thymus	Thymus
2	chr7:21450000-21454200	Enhancers	Fetal Thymus	thymus
3	chr7:21450200-21451800	Weak transcription	Small Intestine	intestine
4	chr7:21450400-21454400	Enhancers	Primary T cells fromperipheralblood	blood
5	chr7:21450600-21454000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:21451000-21453400	Enhancers	Primary T cells from cord blood	blood
7	chr7:21451000-21453800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr7:21451200-21453200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:21451200-21453800	Enhancers	GM12878-XiMat	blood

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