Variant report

Variant	rs12550233
Chromosome Location	chr8:103007974-103007975
allele	A/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:6)

rs_ID	r²[population]
rs10089091	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28809337	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28855196	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4734609	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814951	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7837198	0.87[EUR][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102990400-103008000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr8:102993200-103008400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr8:103000800-103010000	Weak transcription	Fetal Brain Male	brain
4	chr8:103002200-103009800	Weak transcription	K562	blood
5	chr8:103004000-103008000	Weak transcription	Fetal Heart	heart
6	chr8:103005000-103009800	Weak transcription	Brain Germinal Matrix	brain
7	chr8:103005200-103009000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:103006000-103008200	Weak transcription	Left Ventricle	heart
9	chr8:103006000-103008200	Weak transcription	Psoas Muscle	Psoas
10	chr8:103006000-103009000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr8:103007600-103008400	Enhancers	Lung	lung
12	chr8:103007600-103009200	Enhancers	Aorta	Aorta
13	chr8:103007800-103008400	Enhancers	Right Ventricle	heart
14	chr8:103007800-103009000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:103007800-103009600	Enhancers	Ovary	ovary
16	chr8:103007800-103010800	Enhancers	Fetal Muscle Leg	muscle
17	chr8:103007800-103010800	Enhancers	Skeletal Muscle Female	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