Variant report

Variant	rs324807
Chromosome Location	chr12:83930433-83930434
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10862688	0.83[EUR][1000 genomes]
rs11115900	0.83[EUR][1000 genomes]
rs1490433	0.86[AMR][1000 genomes]
rs2201718	0.83[EUR][1000 genomes]
rs3103477	0.83[EUR][1000 genomes]
rs324804	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324805	0.83[EUR][1000 genomes]
rs370604	0.83[EUR][1000 genomes]
rs373407	0.83[EUR][1000 genomes]
rs401687	0.82[EUR][1000 genomes]
rs419637	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs439870	0.83[EUR][1000 genomes]
rs568559	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1042674	chr12:83620899-83942628	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83922400-83930800	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:83926000-83930600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:83929600-83930800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:83929600-83932200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:83930000-83930600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:83930000-83931000	Enhancers	HUES64 Cell Line	embryonic stem cell

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