Variant report

Variant	rs4840470
Chromosome Location	chr8:10145206-10145207
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10105815	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10903323	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11249982	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11249983	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11249989	0.83[AMR][1000 genomes]
rs11784779	0.99[ASN][1000 genomes]
rs12676847	0.86[AMR][1000 genomes]
rs17151700	0.84[AMR][1000 genomes]
rs17151759	0.84[AMR][1000 genomes]
rs2003226	0.83[AMR][1000 genomes]
rs36089236	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4240642	0.87[AMR][1000 genomes]
rs4278158	0.83[AMR][1000 genomes]
rs4307347	0.82[AMR][1000 genomes]
rs4419814	0.82[AMR][1000 genomes]
rs4841310	0.95[ASN][1000 genomes]
rs7818111	0.82[AMR][1000 genomes]
rs7821327	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021921	chr8:9958259-10212555	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv831231	chr8:10001214-10189094	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1030934	chr8:10065169-10561161	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1016347	chr8:10091475-10223667	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1028650	chr8:10101815-10178537	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr8:10134200-10147600	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr8:10144000-10145600	Enhancers	Psoas Muscle	Psoas
3	chr8:10144200-10145400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr8:10144200-10145600	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr8:10144200-10150600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr8:10144400-10149800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr8:10144400-10150600	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:10144400-10167000	Weak transcription	Right Ventricle	heart
9	chr8:10145000-10145600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr8:10145000-10145600	Enhancers	Left Ventricle	heart
11	chr8:10145200-10145600	Enhancers	HSMMtube	muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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