Variant report

Variant	rs12508777
Chromosome Location	chr4:80604849-80604850
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12511432	0.84[AFR][1000 genomes]
rs13123130	0.89[AFR][1000 genomes]
rs13131547	0.84[AFR][1000 genomes]
rs4286541	0.84[AFR][1000 genomes]
rs4286542	0.84[AFR][1000 genomes]
rs4339239	0.84[AFR][1000 genomes]
rs4370154	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4401474	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4426807	0.89[AFR][1000 genomes]
rs4431243	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4577600	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4613597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4975063	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4975101	0.83[AMR][1000 genomes]
rs4975102	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4975103	0.82[AFR][1000 genomes]
rs4975107	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7340867	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7684373	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002031	chr4:80459528-80759113	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1005152	chr4:80549659-80814456	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv997478	chr4:80578536-80669871	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1006225	chr4:80578536-80670045	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv521454	chr4:80598796-80654020	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv594737	chr4:80598796-80669947	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80601200-80606000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:80601600-80605800	Weak transcription	Dnd41	blood
3	chr4:80604400-80605400	Weak transcription	Aorta	Aorta
4	chr4:80604400-80606600	Weak transcription	Psoas Muscle	Psoas

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