Variant report

Variant	rs807541
Chromosome Location	chr6:24559281-24559282
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs699463	1.00[CHB][hapmap];0.89[CHD][hapmap];0.86[MEX][hapmap];0.83[EUR][1000 genomes]
rs807511	0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs807526	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs807528	1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs807535	0.91[MKK][hapmap]
rs807536	1.00[ASW][hapmap];0.94[CEU][hapmap];0.86[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs807537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	esv34020	chr6:24481299-24606036	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1020653	chr6:24557870-24638244	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs807541	TDP2	cis	parietal	SCAN
rs807541	ALDH5A1	cis	parietal	SCAN
rs807541	HIST1H2AJ	cis	cerebellum	SCAN
rs807541	KAAG1	cis	parietal	SCAN
rs807541	HIST1H1A	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:24496200-24583000	Weak transcription	Hela-S3	cervix
2	chr6:24535200-24566600	Weak transcription	Brain Germinal Matrix	brain
3	chr6:24535200-24591200	Weak transcription	Fetal Brain Male	brain
4	chr6:24535600-24560600	Weak transcription	Brain Anterior Caudate	brain
5	chr6:24535600-24560600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:24535600-24563200	Weak transcription	Brain Angular Gyrus	brain
7	chr6:24535600-24583400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:24539200-24583200	Weak transcription	Fetal Intestine Small	intestine
9	chr6:24548400-24583400	Weak transcription	A549	lung
10	chr6:24550200-24566400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr6:24552600-24568800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr6:24554600-24563600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr6:24559200-24559600	Enhancers	Pancreas	Pancrea
14	chr6:24559200-24559800	Strong transcription	Fetal Brain Female	brain

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