Variant report

Variant	rs11992791
Chromosome Location	chr8:124651395-124651396
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11777302	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13261694	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4541894	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870861	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871400	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6470166	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7387179	0.82[ASN][1000 genomes]
rs7388387	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7388404	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124642000-124651800	Weak transcription	Right Ventricle	heart
2	chr8:124643200-124651800	Weak transcription	Psoas Muscle	Psoas
3	chr8:124645000-124651800	Weak transcription	Fetal Heart	heart
4	chr8:124646000-124651800	Weak transcription	Aorta	Aorta
5	chr8:124646000-124655800	Weak transcription	Osteobl	bone
6	chr8:124648000-124651800	Weak transcription	Left Ventricle	heart
7	chr8:124648000-124652600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:124648200-124652200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr8:124648800-124656000	Weak transcription	Brain Hippocampus Middle	brain
10	chr8:124649400-124651800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:124650200-124655600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr8:124650800-124652400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr8:124650800-124652400	Enhancers	Skeletal Muscle Female	skeletal 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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