Variant report

Variant	rs12087378
Chromosome Location	chr1:220536314-220536315
allele	A/T
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]
rs11118534	0.86[AFR][1000 genomes]
rs11118535	0.86[AFR][1000 genomes]
rs11118547	0.84[EUR][1000 genomes]
rs12059878	0.86[AFR][1000 genomes]
rs12062897	0.86[AFR][1000 genomes]
rs12064794	0.86[AFR][1000 genomes]
rs12064931	0.86[AFR][1000 genomes]
rs17007606	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs17007616	0.84[EUR][1000 genomes]
rs1999935	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2221832	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4105051	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41274798	0.92[EUR][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	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220529600-220536600	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:220531600-220542200	Weak transcription	Left Ventricle	heart
3	chr1:220531800-220537200	Weak transcription	Fetal Heart	heart
4	chr1:220535800-220537200	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:220536000-220537000	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr1:220536200-220536600	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr1:220536200-220536600	Weak transcription	Psoas Muscle	Psoas
8	chr1:220536200-220537000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:220536200-220537200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:220536200-220537200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr1:220536200-220541600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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