Variant report

Variant	rs7748991
Chromosome Location	chr6:164182855-164182856
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10945919	0.90[ASN][1000 genomes]
rs1885960	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9356148	0.81[EUR][1000 genomes]
rs9364701	0.82[ASN][1000 genomes]
rs9456883	0.80[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	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv520292	chr6:164174617-164190919	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7748991	NCRNA00241	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:164172200-164185800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:164178600-164185600	Weak transcription	Left Ventricle	heart
3	chr6:164178800-164185400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr6:164179000-164185400	Weak transcription	Fetal Muscle Leg	muscle
5	chr6:164179000-164186000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr6:164180000-164185800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:164180800-164185600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:164181000-164185000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr6:164181000-164185800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr6:164181600-164183200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr6:164182200-164183000	Enhancers	HSMM	muscle
12	chr6:164182200-164185800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:164182200-164192000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr6:164182800-164185000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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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

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